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{
"count": 876,
"next": "https://mitotox.org/api/targets/list?format=api&page=5",
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"results": [
{
"targ_id": "T134",
"parent_targ_id": "T",
"full_name": "Ubiquinone biosynthesis protein COQ9, mitochondrial",
"abbrev": "",
"protein_names": "Ubiquinone biosynthesis protein COQ9, mitochondrial",
"related_func_ids": "F021207",
"category": "protein",
"subcategories": "",
"Uniport_ID": "O75208",
"Uniprot_name": "COQ9_HUMAN",
"EC_numbers": "",
"gene_symbol": "COQ9",
"gene_synonyms": "C16orf49, DKFZP434K046",
"gene_synonyms_links": "",
"gene_name": "Coenzyme Q9",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000088682",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "",
"targ_desciption": "Lipid-binding protein involved in the biosynthesis ofcoenzyme Q, also named ubiquinone, an essential lipid-soluble electrontransporter for aerobic cellular respiration. Binds a phospholipid ofat least 10 carbons in each acyl group. May be required to present itsbound-lipid to COQ7. {ECO:0000269|PubMed:25339443}.",
"references": []
},
{
"targ_id": "T135",
"parent_targ_id": "T",
"full_name": "Decaprenyl-diphosphate synthase",
"abbrev": "",
"protein_names": "",
"related_func_ids": "F021207",
"category": "enzyme",
"subcategories": "",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": []
},
{
"targ_id": "T135001",
"parent_targ_id": "T135",
"full_name": "Decaprenyl-diphosphate synthase subunit 1",
"abbrev": "TPT 1",
"protein_names": "Decaprenyl-diphosphate synthase subunit 1 (EC 2.5.1.91) (All-trans-decaprenyl-diphosphate synthase subunit 1) (Decaprenyl pyrophosphate synthase subunit 1) (Trans-prenyltransferase 1) (TPT 1)",
"related_func_ids": "F021207",
"category": "protein subunit",
"subcategories": "Transferase",
"Uniport_ID": "Q5T2R2",
"Uniprot_name": "DPS1_HUMAN",
"EC_numbers": "2.5.1.91",
"gene_symbol": "PDSS1",
"gene_synonyms": "COQ1, TPRT, TPT",
"gene_synonyms_links": "",
"gene_name": "Decaprenyl diphosphate synthase subunit 1",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000148459",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "(2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate =all-trans-decaprenyl diphosphate + 7 diphosphate",
"targ_desciption": "Supplies decaprenyl diphosphate, the precursor for the sidechain of the isoprenoid quinones ubiquinone-10.{ECO:0000269|PubMed:16262699}.",
"references": []
},
{
"targ_id": "T135002",
"parent_targ_id": "T135",
"full_name": "Decaprenyl-diphosphate synthase subunit 2",
"abbrev": "Decaprenyl pyrophosphate synthase subunit 2",
"protein_names": "Decaprenyl-diphosphate synthase subunit 2 (EC 2.5.1.91) (All-trans-decaprenyl-diphosphate synthase subunit 2) (Candidate tumor suppressor protein) (Decaprenyl pyrophosphate synthase subunit 2)",
"related_func_ids": "F021207",
"category": "protein subunit",
"subcategories": "Transferase",
"Uniport_ID": "Q86YH6",
"Uniprot_name": "DLP1_HUMAN",
"EC_numbers": "2.5.1.91",
"gene_symbol": "PDSS2",
"gene_synonyms": "bA59I9.3, C6orf210",
"gene_synonyms_links": "",
"gene_name": "Decaprenyl diphosphate synthase subunit 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000164494",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "(2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate =all-trans-decaprenyl diphosphate + 7 diphosphate",
"targ_desciption": "Supplies decaprenyl diphosphate, the precursor for the sidechain of the isoprenoid quinones ubiquinone-10.{ECO:0000269|PubMed:16262699}.",
"references": []
},
{
"targ_id": "T136",
"parent_targ_id": "T",
"full_name": "Corrinoid adenosyltransferase",
"abbrev": "Cobinamide/cobalamin adenosyltransferase",
"protein_names": "Corrinoid adenosyltransferase (EC 2.5.1.17) (Cob(II)alamin adenosyltransferase) (Cob(II)yrinic acid a,c-diamide adenosyltransferase) (Cobinamide/cobalamin adenosyltransferase) (Methylmalonic aciduria type B protein)",
"related_func_ids": "F021208",
"category": "enzyme",
"subcategories": "Transferase",
"Uniport_ID": "Q96EY8",
"Uniprot_name": "MMAB_HUMAN",
"EC_numbers": "2.5.1.17",
"gene_symbol": "MMAB",
"gene_synonyms": "cblB, CFAP23",
"gene_synonyms_links": "",
"gene_name": "Methylmalonic aciduria (cobalamin deficiency) cblB type",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000139428",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "2 ATP + 2 cob(II)yrinate a,c diamide + reduced [electron-transfer flavoprotein] = 2 adenosylcob(III)yrinate a,c-diamide + 3H(+) + oxidized [electron-transfer flavoprotein] + 2 triphosphate; 2 ATP + 2 cob(II)alamin + reduced [electron-transferflavoprotein] = 2 adenosylcob(III)alamin + 3 H(+) + oxidized[electron-transfer flavoprotein] + 2 triphosphate",
"targ_desciption": "Adenosyltransferase involved in intracellular vitamin B12metabolism. Generates adenosylcobalamin (AdoCbl) and directly deliversthe cofactor to MUT in a transfer that is stimulated by ATP-binding toMMAB and gated by MMAA. {ECO:0000305|PubMed:28497574}.",
"references": []
},
{
"targ_id": "T137",
"parent_targ_id": "T",
"full_name": "Methylmalonyl-CoA mutase, mitochondrial",
"abbrev": "MCM",
"protein_names": "Methylmalonyl-CoA mutase, mitochondrial (MCM) (EC 5.4.99.2) (Methylmalonyl-CoA isomerase)",
"related_func_ids": "F021208",
"category": "enzyme",
"subcategories": "Isomerase",
"Uniport_ID": "P22033",
"Uniprot_name": "MUTA_HUMAN",
"EC_numbers": "5.4.99.2",
"gene_symbol": "MUT",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Methylmalonyl-CoA mutase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000146085",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion matrix",
"reaction": "(R)-methylmalonyl-CoA = succinyl-CoA",
"targ_desciption": "Involved in the degradation of several amino acids, odd-chainfatty acids and cholesterol via propionyl-CoA to the tricarboxylic acidcycle. MCM has different functions in other species.",
"references": []
},
{
"targ_id": "T138",
"parent_targ_id": "T",
"full_name": "Folylpolyglutamate synthase, mitochondrial",
"abbrev": "FPGS",
"protein_names": "Folylpolyglutamate synthase, mitochondrial (EC 6.3.2.17) (Folylpoly-gamma-glutamate synthetase) (FPGS) (Tetrahydrofolylpolyglutamate synthase) (Tetrahydrofolate synthase)",
"related_func_ids": "F020707; F021209",
"category": "enzyme",
"subcategories": "Ligase",
"Uniport_ID": "Q05932",
"Uniprot_name": "FOLC_HUMAN",
"EC_numbers": "6.3.2.17",
"gene_symbol": "FPGS",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Folylpolyglutamate synthase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000136877",
"omim_id": "",
"genecard_link": "",
"locs": "[Isoform 1]: Mitochondrion inner membrane; Mitochondrion matrix; [Isoform 2]: Cytoplasm",
"reaction": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)n + ATP + L-glutamate = (6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)n+1 + ADP +H(+) + phosphate",
"targ_desciption": "Catalyzes conversion of folates to polyglutamate derivativesallowing concentration of folate compounds in the cell and theintracellular retention of these cofactors, which are importantsubstrates for most of the folate-dependent enzymes that are involvedin one-carbon transfer reactions involved in purine, pyrimidine andamino acid synthesis. Unsubstituted reduced folates are the preferredsubstrates. Metabolizes methotrexate (MTX) to polyglutamates.{ECO:0000269|PubMed:8408018, ECO:0000269|PubMed:8408019,ECO:0000269|PubMed:8408021, ECO:0000269|PubMed:8662720}.",
"references": []
},
{
"targ_id": "T139",
"parent_targ_id": "T",
"full_name": "Methylmalonic aciduria type A protein, mitochondrial",
"abbrev": "",
"protein_names": "Methylmalonic aciduria type A protein, mitochondrial (EC 3.6.-.-)",
"related_func_ids": "F021208",
"category": "protein",
"subcategories": "Chaperone, Hydrolase",
"Uniport_ID": "Q8IVH4",
"Uniprot_name": "MMAA_HUMAN",
"EC_numbers": "3.6.-.-",
"gene_symbol": "MMAA",
"gene_synonyms": "cblA",
"gene_synonyms_links": "",
"gene_name": "Methylmalonic aciduria (cobalamin deficiency) cblA type",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000151611",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "GTP + H2O = GDP + H(+) + phosphate",
"targ_desciption": "GTPase, binds and hydrolyzes GTP (PubMed:28497574,PubMed:20876572). Involved in intracellular vitamin B12 metabolism,mediates the transport of cobalamin (Cbl) into mitochondria for thefinal steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB tothe methylmalonyl-CoA mutase (MMUT) and reactivation of the enzymeduring catalysis (PubMed:28497574, PubMed:20876572).{ECO:0000269|PubMed:20876572, ECO:0000269|PubMed:28497574}.",
"references": []
},
{
"targ_id": "T140",
"parent_targ_id": "T",
"full_name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial",
"abbrev": "25-OHD-1 alpha-hydroxylase",
"protein_names": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (EC 1.14.15.18) (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D(3) 1-alpha-hydroxylase) (VD3 1A hydroxylase) (Calcidiol 1-monooxygenase) (Cytochrome P450 subfamily XXVIIB polypeptide 1) (Cytochrome P450C1 alpha) (Cytochrome P450VD1-alpha) (Cytochrome p450 27B1)",
"related_func_ids": "F021210",
"category": "enzyme",
"subcategories": "Monooxygenase, Oxidoreductase",
"Uniport_ID": "O15528",
"Uniprot_name": "CP27B_HUMAN",
"EC_numbers": "1.14.15.18",
"gene_symbol": "CYP27B1",
"gene_synonyms": "CYP1, P450c1, PDDR, VDD1",
"gene_synonyms_links": "",
"gene_name": "Cytochrome P450 family 27 subfamily B member 1",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000111012",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion membrane",
"reaction": "calcidiol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = calcitriol+ H2O + 2 oxidized [adrenodoxin]; 2 H(+) + O2 + 2 reduced [adrenodoxin] + secalciferol =calcitetrol + H2O + 2 oxidized [adrenodoxin]; 25-hydroxy-24-oxocalciol + 2 H(+) + O2 + 2 reduced[adrenodoxin] = (1S)-1,25-dihydroxy-24-oxocalciol + H2O + 2 oxidized[adrenodoxin]; 25-hydroxyvitamin D2 + 2 H(+) + O2 + 2 reduced [adrenodoxin] =1alpha,25-dihydroxyvitamin D2 + H2O + 2 oxidized [adrenodoxin]",
"targ_desciption": "A cytochrome P450 monooxygenase involved in vitamin Dmetabolism and in calcium and phosphorus homeostasis. Catalyzes therate-limiting step in the activation of vitamin D in the kidney, namelythe hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor(VDR) (PubMed:10518789, PubMed:9486994, PubMed:22862690,PubMed:10566658, PubMed:12050193). Has 1alpha-hydroxylase activity onvitamin D intermediates of the CYP24A1-mediated inactivation pathway(PubMed:10518789, PubMed:22862690). Converts 24R,25-dihydroxyvitaminD3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligandof VDR. Also active on 25-hydroxyvitamin D2 (PubMed:10518789).Mechanistically, uses molecular oxygen inserting one oxygen atom into asubstrate, and reducing the second into a water molecule, with twoelectrons provided by NADPH via FDXR/adrenodoxin reductase andFDX1/adrenodoxin (PubMed:22862690). {ECO:0000269|PubMed:10518789,ECO:0000269|PubMed:10566658, ECO:0000269|PubMed:12050193,ECO:0000269|PubMed:22862690, ECO:0000269|PubMed:9486994}.",
"references": []
},
{
"targ_id": "T141",
"parent_targ_id": "T",
"full_name": "Dihydrofolate reductase 2, mitochondrial",
"abbrev": "Dihydrofolate reductase, mitochondrial",
"protein_names": "Dihydrofolate reductase 2, mitochondrial (Dihydrofolate reductase, mitochondrial) (EC 1.5.1.3) (Dihydrofolate reductase-like protein 1)",
"related_func_ids": "F021209",
"category": "enzyme",
"subcategories": "Oxidoreductase",
"Uniport_ID": "Q86XF0",
"Uniprot_name": "DYR2_HUMAN",
"EC_numbers": "1.5.1.3",
"gene_symbol": "DHFR2",
"gene_synonyms": "DHFRL1, DHFRP4, FLJ16119",
"gene_synonyms_links": "",
"gene_name": "Dihydrofolate reductase 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000178700",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion; Mitochondrion matrix; Mitochondrion inner membrane",
"reaction": "(6S)-5,6,7,8-tetrahydrofolate + NADP(+) = 7,8-dihydrofolate +H(+) + NADPH",
"targ_desciption": "Key enzyme in folate metabolism. Contributes to the de novomitochondrial thymidylate biosynthesis pathway. Required to preventuracil accumulation in mtDNA. Binds its own mRNA and that of DHFR.{ECO:0000269|PubMed:21876184, ECO:0000269|PubMed:21876188}.",
"references": []
},
{
"targ_id": "T142",
"parent_targ_id": "T",
"full_name": "Folic acid synthesis protein FOL1 [Includes: Dihydroneopterin aldolase",
"abbrev": "FASB",
"protein_names": "Folic acid synthesis protein FOL1 [Includes: Dihydroneopterin aldolase (DHNA) (EC 4.1.2.25) (7,8-dihydroneopterin aldolase) (FASA) (FASB); 6-hydroxymethyl-7,8-dihydropterin pyrophosphokinase (HPPK) (EC 2.7.6.3) (2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase) (7,8-dihydro-6-hydroxymethylpterin-pyrophosphokinase) (PPPK) (FASC); Dihydropteroate synthase (DHPS) (EC 2.5.1.15) (Dihydropteroate pyrophosphorylase) (FASD)]",
"related_func_ids": "F021209",
"category": "protein",
"subcategories": "",
"Uniport_ID": "P53848",
"Uniprot_name": "FOL1_YEAST",
"EC_numbers": "4.1.2.25; 2.7.6.3; 2.5.1.15",
"gene_symbol": "FOL1 YNL256W N0848",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion membrane",
"reaction": "7,8-dihydroneopterin = 6-hydroxymethyl-7,8-dihydropterin +glycolaldehyde; 6-hydroxymethyl-7,8-dihydropterin + ATP = (7,8-dihydropterin-6-yl)methyl diphosphate + AMP + H(+); (7,8-dihydropterin-6-yl)methyl diphosphate + 4-aminobenzoate =7,8-dihydropteroate + diphosphate",
"targ_desciption": "Catalyzes three sequential steps of tetrahydrofolatebiosynthesis. {ECO:0000269|PubMed:15169867}.",
"references": []
},
{
"targ_id": "T143",
"parent_targ_id": "T",
"full_name": "Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial",
"abbrev": "",
"protein_names": "Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial [Includes: NAD-dependent methylenetetrahydrofolate dehydrogenase (EC 1.5.1.15); Methenyltetrahydrofolate cyclohydrolase (EC 3.5.4.9)]",
"related_func_ids": "F021209",
"category": "enzyme",
"subcategories": "Hydrolase, Multifunctional enzyme, Oxidoreductase",
"Uniport_ID": "P13995",
"Uniprot_name": "MTDC_HUMAN",
"EC_numbers": "1.5.1.15; 3.5.4.9",
"gene_symbol": "MTHFD2",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000065911",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + NAD(+) = 5,10-methenyltetrahydrofolate + NADH; 5,10-methenyltetrahydrofolate + H2O = (6S)-10-formyltetrahydrofolate + H(+)",
"targ_desciption": "Although its dehydrogenase activity is NAD-specific, it canalso utilize NADP at a reduced efficiency.{ECO:0000269|PubMed:16100107}.",
"references": []
},
{
"targ_id": "T144",
"parent_targ_id": "T",
"full_name": "NADPH:adrenodoxin oxidoreductase, mitochondrial",
"abbrev": "AR",
"protein_names": "NADPH:adrenodoxin oxidoreductase, mitochondrial (AR) (Adrenodoxin reductase) (EC 1.18.1.6) (Ferredoxin--NADP(+) reductase) (Ferredoxin reductase)",
"related_func_ids": "F020604; F021207; F031101",
"category": "enzyme",
"subcategories": "Oxidoreductase",
"Uniport_ID": "P22570",
"Uniprot_name": "ADRO_HUMAN",
"EC_numbers": "1.18.1.6",
"gene_symbol": "FDXR",
"gene_synonyms": "ADXR",
"gene_synonyms_links": "",
"gene_name": "Ferredoxin reductase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000161513",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Peripheral membrane protein",
"reaction": "H(+) + NADP(+) + 2 reduced [adrenodoxin] = NADPH + 2 oxidized[adrenodoxin]",
"targ_desciption": "Serves as the first electron transfer protein in all themitochondrial P450 systems including cholesterol side chain cleavage inall steroidogenic tissues, steroid 11-beta hydroxylation in the adrenalcortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver. {ECO:0000250|UniProtKB:P08165}.",
"references": []
},
{
"targ_id": "T145",
"parent_targ_id": "T",
"full_name": "Ferredoxin-2, mitochondrial",
"abbrev": "Adrenodoxin-like protein",
"protein_names": "Ferredoxin-2, mitochondrial (Adrenodoxin-like protein) (Ferredoxin-1-like protein)",
"related_func_ids": "F020604; F031101",
"category": "protein",
"subcategories": "",
"Uniport_ID": "Q6P4F2",
"Uniprot_name": "FDX2_HUMAN",
"EC_numbers": "",
"gene_symbol": "FDX2",
"gene_synonyms": "FDX1L, MGC19604",
"gene_synonyms_links": "",
"gene_name": "Ferredoxin 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000267673",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion; Mitochondrion matrix",
"reaction": "",
"targ_desciption": "Essential for heme A and Fe/S protein biosynthesis.{ECO:0000269|PubMed:20547883}.",
"references": []
},
{
"targ_id": "T146",
"parent_targ_id": "T",
"full_name": "Frataxin, mitochondrial",
"abbrev": "Fxn",
"protein_names": "Frataxin, mitochondrial (EC 1.16.3.1) (Friedreich ataxia protein) (Fxn) [Cleaved into: Frataxin intermediate form (i-FXN); Frataxin(56-210) (m56-FXN); Frataxin(78-210) (d-FXN) (m78-FXN); Frataxin mature form (Frataxin(81-210)) (m81-FXN)]",
"related_func_ids": "F021205; F031101",
"category": "protein",
"subcategories": "Oxidoreductase",
"Uniport_ID": "Q16595",
"Uniprot_name": "FRDA_HUMAN",
"EC_numbers": "1.16.3.1",
"gene_symbol": "FXN",
"gene_synonyms": "CyaY, FA, FARR, FRDA, X25",
"gene_synonyms_links": "",
"gene_name": "Frataxin",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000165060",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion; Cytoplasm,cytosol;",
"reaction": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O",
"targ_desciption": "Promotes the biosynthesis of heme and assembly and repair ofiron-sulfur clusters by delivering Fe(2+) to proteins involved in thesepathways. May play a role in the protection against iron-catalyzedoxidative stress through its ability to catalyze the oxidation ofFe(2+) to Fe(3+). the oligomeric form but not the monomeric form has invitro ferroxidase activity. May be able to store large amounts of ironin the form of a ferrihydrite mineral by oligomerization. however, thephysiological relevance is unsure as reports are conflicting and thefunction has only been shown using heterologous overexpression systems.Modulates the RNA-binding activity of ACO1.{ECO:0000269|PubMed:12785837, ECO:0000269|PubMed:15247478,ECO:0000269|PubMed:15641778, ECO:0000269|PubMed:16239244,ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:20053667}.",
"references": []
},
{
"targ_id": "T147",
"parent_targ_id": "T",
"full_name": "Iron-sulfur cluster assembly 1 homolog, mitochondrial",
"abbrev": "hIscA",
"protein_names": "Iron-sulfur cluster assembly 1 homolog, mitochondrial (HESB-like domain-containing protein 2) (Iron-sulfur assembly protein IscA) (hIscA)",
"related_func_ids": "F031101",
"category": "protein",
"subcategories": "",
"Uniport_ID": "Q9BUE6",
"Uniprot_name": "ISCA1_HUMAN",
"EC_numbers": "",
"gene_symbol": "ISCA1",
"gene_synonyms": "HBLD2, hIscA, ISA1, MGC4276",
"gene_synonyms_links": "",
"gene_name": "Iron-sulfur cluster assembly 1",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000135070",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "",
"targ_desciption": "Involved in the maturation of mitochondrial 4Fe-4S proteinsfunctioning late in the iron-sulfur cluster assembly pathway. Probablyinvolved in the binding of an intermediate of Fe/S cluster assembly.{ECO:0000269|PubMed:15262227, ECO:0000269|PubMed:22323289}.",
"references": []
},
{
"targ_id": "T148",
"parent_targ_id": "T",
"full_name": "Iron-sulfur cluster assembly 2 homolog, mitochondrial",
"abbrev": "HESB-like domain-containing protein 1",
"protein_names": "Iron-sulfur cluster assembly 2 homolog, mitochondrial (HESB-like domain-containing protein 1)",
"related_func_ids": "F031101",
"category": "protein",
"subcategories": "",
"Uniport_ID": "Q86U28",
"Uniprot_name": "ISCA2_HUMAN",
"EC_numbers": "",
"gene_symbol": "ISCA2",
"gene_synonyms": "HBLD1, ISA2",
"gene_synonyms_links": "",
"gene_name": "Iron-sulfur cluster assembly 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000165898",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "",
"targ_desciption": "Involved in the maturation of mitochondrial 4Fe-4S proteinsfunctioning late in the iron-sulfur cluster assembly pathway. May beinvolved in the binding of an intermediate of Fe/S cluster assembly.{ECO:0000269|PubMed:22323289}.",
"references": []
},
{
"targ_id": "T149",
"parent_targ_id": "T",
"full_name": "Iron-sulfur cluster assembly enzyme ISCU, mitochondrial",
"abbrev": "NifU-like protein",
"protein_names": "Iron-sulfur cluster assembly enzyme ISCU, mitochondrial (NifU-like N-terminal domain-containing protein) (NifU-like protein)",
"related_func_ids": "F031101",
"category": "enzyme",
"subcategories": "",
"Uniport_ID": "Q9H1K1",
"Uniprot_name": "ISCU_HUMAN",
"EC_numbers": "",
"gene_symbol": "ISCU",
"gene_synonyms": "hnifU, IscU, ISU2, NIFUN",
"gene_synonyms_links": "",
"gene_name": "Iron-sulfur cluster assembly enzyme",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000136003",
"omim_id": "",
"genecard_link": "",
"locs": "[Isoform 1]: Mitochondrion; [Isoform 2]: Cytoplasm; Nucleus",
"reaction": "",
"targ_desciption": "Scaffold protein for the de novo synthesis of iron-sulfur(Fe-S) clusters within mitochondria, which is required for maturationof both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins(PubMed:11060020). First, a [2Fe-2S] cluster is transiently assembledon the scaffold protein ISCU. In a second step, the cluster is releasedfrom ISCU, transferred to a glutaredoxin GLRX5, followed by theformation of mitochondrial [2Fe-2S] proteins, the synthesis of [4Fe-4S]clusters and their target-specific insertion into the recipientapoproteins. Cluster assembly on ISCU depends on the function of thecysteine desulfurase complex NFS1-LYRM4/ISD11, which serves as thesulfur donor for cluster synthesis, the iron-binding protein frataxinas the putative iron donor, and the electron transfer chain comprisedof ferredoxin reductase and ferredoxin, which receive their electronsfrom NADH (By similarity). {ECO:0000250|UniProtKB:Q03020,ECO:0000269|PubMed:11060020}.; [Isoform 2]: Functions as a cytoplasmic scaffold protein forthe de novo synthesis of iron-sulfur clusters in the cytoplasm.{ECO:0000269|PubMed:29309586}.",
"references": []
},
{
"targ_id": "T150",
"parent_targ_id": "T",
"full_name": "LYR motif-containing protein 4",
"abbrev": "",
"protein_names": "LYR motif-containing protein 4",
"related_func_ids": "F031101",
"category": "protein",
"subcategories": "",
"Uniport_ID": "Q9HD34",
"Uniprot_name": "LYRM4_HUMAN",
"EC_numbers": "",
"gene_symbol": "LYRM4",
"gene_synonyms": "C6orf149, CGI-203, ISD11",
"gene_synonyms_links": "",
"gene_name": "LYR motif containing 4",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000214113",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion; Nucleus",
"reaction": "",
"targ_desciption": "Required for nuclear and mitochondrial iron-sulfur proteinbiosynthesis. {ECO:0000269|PubMed:17331979,ECO:0000269|PubMed:19454487}.",
"references": []
},
{
"targ_id": "T151",
"parent_targ_id": "T",
"full_name": "Cysteine desulfurase, mitochondrial",
"abbrev": "",
"protein_names": "Cysteine desulfurase, mitochondrial (EC 2.8.1.7)",
"related_func_ids": "F031101",
"category": "enzyme",
"subcategories": "Transferase",
"Uniport_ID": "Q9Y697",
"Uniprot_name": "NFS1_HUMAN",
"EC_numbers": "2.8.1.7",
"gene_symbol": "NFS1",
"gene_synonyms": "IscS, NifS",
"gene_synonyms_links": "",
"gene_name": "NFS1, cysteine desulfurase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000244005",
"omim_id": "",
"genecard_link": "",
"locs": "[Isoform Mitochondrial]: Mitochondrion; [Isoform Cytoplasmic]: Cytoplasm; Nucleus",
"reaction": "[sulfur carrier]-H + L-cysteine = [sulfur carrier]-SH + L-alanine",
"targ_desciption": "Catalyzes the removal of elemental sulfur from cysteine toproduce alanine. It supplies the inorganic sulfur for iron-sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenumcofactor. {ECO:0000269|PubMed:18650437}.",
"references": []
},
{
"targ_id": "T152",
"parent_targ_id": "T",
"full_name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial",
"abbrev": "HIRA-interacting protein 5",
"protein_names": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial (HIRA-interacting protein 5)",
"related_func_ids": "F031101",
"category": "protein",
"subcategories": "",
"Uniport_ID": "Q9UMS0",
"Uniprot_name": "NFU1_HUMAN",
"EC_numbers": "",
"gene_symbol": "NFU1",
"gene_synonyms": "CGI-33, HIRIP5, NifU, NIFUC",
"gene_synonyms_links": "",
"gene_name": "NFU1 iron-sulfur cluster scaffold",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000169599",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion; Cytoplasm, cytosol",
"reaction": "",
"targ_desciption": "Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins.{ECO:0000269|PubMed:12886008, ECO:0000269|PubMed:27818104,ECO:0000269|PubMed:28906594}.",
"references": []
},
{
"targ_id": "T153",
"parent_targ_id": "T",
"full_name": "BolA-like protein 3",
"abbrev": "",
"protein_names": "BolA-like protein 3",
"related_func_ids": "F0219",
"category": "protein",
"subcategories": "",
"Uniport_ID": "Q53S33",
"Uniprot_name": "BOLA3_HUMAN",
"EC_numbers": "",
"gene_symbol": "BOLA3",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "BolA family member 3",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000163170",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "",
"targ_desciption": "Acts as a mitochondrial iron-sulfur (Fe-S) cluster assemblyfactor that facilitates (Fe-S) cluster insertion into a subset ofmitochondrial proteins. Probably acts together with NFU1(PubMed:27532772). {ECO:0000250|UniProtKB:P39724,ECO:0000305|PubMed:27532772}.",
"references": []
},
{
"targ_id": "T154",
"parent_targ_id": "T",
"full_name": "Glutaredoxin-related protein 5, mitochondrial",
"abbrev": "Monothiol glutaredoxin-5",
"protein_names": "Glutaredoxin-related protein 5, mitochondrial (Monothiol glutaredoxin-5)",
"related_func_ids": "F0219",
"category": "protein",
"subcategories": "",
"Uniport_ID": "Q86SX6",
"Uniprot_name": "GLRX5_HUMAN",
"EC_numbers": "",
"gene_symbol": "GLRX5",
"gene_synonyms": "C14orf87, GRX5, PR01238",
"gene_synonyms_links": "",
"gene_name": "Glutaredoxin 5",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000182512",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion matrix",
"reaction": "",
"targ_desciption": "Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters (PubMed:20364084). Involved in protein lipoylation,acting in the pathway that provides an iron-sulfur cluster to lipoatesynthase (PubMed:24334290). Required for normal iron homeostasis.Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084). May protect cells againstapoptosis due to reactive oxygen species and oxidative stress (Bysimilarity). {ECO:0000250|UniProtKB:Q80Y14,ECO:0000269|PubMed:20364084, ECO:0000269|PubMed:24334290}.",
"references": []
},
{
"targ_id": "T155",
"parent_targ_id": "T",
"full_name": "Putative transferase CAF17, mitochondrial",
"abbrev": "Iron-sulfur cluster assembly factor homolog",
"protein_names": "Putative transferase CAF17, mitochondrial (EC 2.1.-.-) (Iron-sulfur cluster assembly factor homolog)",
"related_func_ids": "F0219",
"category": "enzyme",
"subcategories": "Transferase",
"Uniport_ID": "Q5T440",
"Uniprot_name": "CAF17_HUMAN",
"EC_numbers": "2.1.-.-",
"gene_symbol": "IBA57",
"gene_synonyms": "C1orf69, FLJ12734",
"gene_synonyms_links": "",
"gene_name": "IBA57, iron-sulfur cluster assembly",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000181873",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "",
"targ_desciption": "Involved in the maturation of mitochondrial 4Fe-4S proteinsfunctioning late in the iron-sulfur cluster assembly pathway.{ECO:0000269|PubMed:23462291}.",
"references": []
},
{
"targ_id": "T156",
"parent_targ_id": "T",
"full_name": "Lipoyl synthase, mitochondrial",
"abbrev": "LS",
"protein_names": "Lipoyl synthase, mitochondrial (EC 2.8.1.8) (Lipoate synthase) (LS) (Lip-syn) (Lipoic acid synthase)",
"related_func_ids": "F0219",
"category": "enzyme",
"subcategories": "Transferase",
"Uniport_ID": "O43766",
"Uniprot_name": "LIAS_HUMAN",
"EC_numbers": "2.8.1.8",
"gene_symbol": "LIAS",
"gene_synonyms": "LAS",
"gene_synonyms_links": "",
"gene_name": "Lipoic acid synthetase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000121897",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "[[Fe-S] cluster scaffold protein carrying a second [4Fe-4S](2+) cluster] + 4 H(+) + N(6)-octanoyl-L-lysyl-[protein] + 2oxidized [2Fe-2S]-[ferredoxin] + 2 S-adenosyl-L-methionine = (R)-N(6)-dihydrolipoyl-L-lysyl-[protein] + 2 5'-deoxyadenosine + [[Fe-S]cluster scaffold protein] + 4 Fe(3+) + 2 hydrogen sulfide + 2 L-methionine + 2 reduced [2Fe-2S]-[ferredoxin]",
"targ_desciption": "Catalyzes the radical-mediated insertion of two sulfur atomsinto the C-6 and C-8 positions of the octanoyl moiety bound to thelipoyl domains of lipoate-dependent enzymes, thereby converting theoctanoylated domains into lipoylated derivatives. {ECO:0000255|HAMAP-Rule:MF_03123}.",
"references": []
},
{
"targ_id": "T157",
"parent_targ_id": "T",
"full_name": "Lipoyltransferase 1, mitochondrial",
"abbrev": "Lipoate-protein ligase",
"protein_names": "Lipoyltransferase 1, mitochondrial (EC 2.3.1.-) (Lipoate biosynthesis protein) (Lipoate-protein ligase) (Lipoyl ligase)",
"related_func_ids": "F0219",
"category": "enzyme",
"subcategories": "Acyltransferase, Transferase",
"Uniport_ID": "Q9Y234",
"Uniprot_name": "LIPT_HUMAN",
"EC_numbers": "2.3.1.-",
"gene_symbol": "LIPT1",
"gene_synonyms": "MGC12290, MGC13378",
"gene_synonyms_links": "",
"gene_name": "Lipoyltransferase 1",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000144182",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "(R)-lipoyl-5'-AMP + L-lysyl-[lipoyl-carrier protein] = (R)-N(6)-lipoyl-L-lysyl-[lipoyl-carrier protein] + AMP + 2 H(+)",
"targ_desciption": "Catalyzes the transfer of the lipoyl group from lipoyl-AMP tothe specific lysine residue of lipoyl domains of lipoate-dependentenzymes. {ECO:0000250}.",
"references": []
},
{
"targ_id": "T158",
"parent_targ_id": "T",
"full_name": "Putative lipoyltransferase 2, mitochondrial",
"abbrev": "Lipoate-protein ligase B",
"protein_names": "Putative lipoyltransferase 2, mitochondrial (EC 2.3.1.181) (Lipoate-protein ligase B) (Lipoyl/octanoyl transferase) (Octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase)",
"related_func_ids": "F0219",
"category": "enzyme",
"subcategories": "Acyltransferase, Ligase, Transferase",
"Uniport_ID": "A6NK58",
"Uniprot_name": "LIPT2_HUMAN",
"EC_numbers": "2.3.1.181",
"gene_symbol": "LIPT2",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Lipoyl(octanoyl) transferase 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000175536",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "L-lysyl-[protein] + octanoyl-[ACP] = H(+) + holo-[ACP] + N(6)-octanoyl-L-lysyl-[protein]",
"targ_desciption": "Catalyzes the transfer of endogenously produced octanoic acidfrom octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate-dependent enzymes, which catalyze essential redox reactions(PubMed:28757203). Lipoyl-ACP can also act as a substrate althoughoctanoyl-ACP is likely to be the physiological substrate (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:28757203}.",
"references": []
},
{
"targ_id": "T159",
"parent_targ_id": "T",
"full_name": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial",
"abbrev": "HsNrbf-1",
"protein_names": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial (EC 1.3.1.104) (2-enoyl thioester reductase) (Nuclear receptor-binding factor 1) (HsNrbf-1) (NRBF-1)",
"related_func_ids": "F0219",
"category": "enzyme",
"subcategories": "Oxidoreductase",
"Uniport_ID": "Q9BV79",
"Uniprot_name": "MECR_HUMAN",
"EC_numbers": "1.3.1.104",
"gene_symbol": "MECR",
"gene_synonyms": "CGI-63, ETR1, FASN2B, NRBF1",
"gene_synonyms_links": "",
"gene_name": "Mitochondrial trans-2-enoyl-CoA reductase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000116353",
"omim_id": "",
"genecard_link": "",
"locs": "[Isoform 1]: Mitochondrion; [Isoform 2]: Cytoplasm; Nucleus",
"reaction": "a 2,3-saturated acyl-[ACP] + NADP(+) = a (2E)-enoyl-[ACP] +H(+) + NADPH",
"targ_desciption": "Catalyzes the NADPH-dependent reduction of trans-2-enoylthioesters in mitochondrial fatty acid synthesis (fatty acid synthesistype II). Fatty acid chain elongation in mitochondria uses acyl carrierprotein (ACP) as an acyl group carrier, but the enzyme accepts both ACPand CoA thioesters as substrates in vitro. Has a preference for shortand medium chain substrates, including trans-2-hexenoyl-CoA (C6),trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).{ECO:0000269|PubMed:18479707, ECO:0000269|PubMed:27817865}.",
"references": []
},
{
"targ_id": "T160",
"parent_targ_id": "T",
"full_name": "Biotinidase",
"abbrev": "Biotinase",
"protein_names": "Biotinidase (Biotinase) (EC 3.5.1.12)",
"related_func_ids": "F021211",
"category": "enzyme",
"subcategories": "Hydrolase",
"Uniport_ID": "P43251",
"Uniprot_name": "BTD_HUMAN",
"EC_numbers": "3.5.1.12",
"gene_symbol": "BTD",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Biotinidase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000169814",
"omim_id": "",
"genecard_link": "",
"locs": "Secreted, extracellular space",
"reaction": "biotin amide + H2O = biotin + NH4(+)",
"targ_desciption": "Catalytic release of biotin from biocytin, the product ofbiotin-dependent carboxylases degradation.",
"references": []
},
{
"targ_id": "T161",
"parent_targ_id": "T",
"full_name": "Biotin--protein ligase",
"abbrev": "HCS",
"protein_names": "Biotin--protein ligase (EC 6.3.4.-) (Biotin apo-protein ligase) [Includes: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase (EC 6.3.4.9); Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase (EC 6.3.4.10) (Holocarboxylase synthetase) (HCS); Biotin--[methylcrotonoyl-CoA-carboxylase] ligase (EC 6.3.4.11); Biotin--[acetyl-CoA-carboxylase] ligase (EC 6.3.4.15)]",
"related_func_ids": "F021211",
"category": "enzyme",
"subcategories": "ligase",
"Uniport_ID": "P50747",
"Uniprot_name": "BPL1_HUMAN",
"EC_numbers": "6.3.4.-; 6.3.4.9; 6.3.4.10; 6.3.4.11; 6.3.4.15",
"gene_symbol": "HLCS",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cytoplasm; Mitochondrion",
"reaction": "apo-[methylmalonyl-CoA:pyruvate carboxytransferase] + ATP +biotin = AMP + diphosphate + H(+) + holo-[methylmalonyl-CoA:pyruvatecarboxytransferase]; apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP+ biotin = AMP + diphosphate + H(+) + holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]; apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H(+) + holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]; ATP + biotin + L-lysyl-[protein] = AMP + diphosphate + H(+) +N(6)-biotinyl-L-lysyl-[protein]",
"targ_desciption": "Biotin--protein ligase catalyzing the biotinylation of the 4biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvatecarboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoAcarboxylase. {ECO:0000269|PubMed:10590022, ECO:0000269|PubMed:7753853,ECO:0000269|PubMed:7842009}.",
"references": []
},
{
"targ_id": "T162",
"parent_targ_id": "T",
"full_name": "Methylcrotonoyl-CoA carboxylase, mitochondrial",
"abbrev": "MCCase",
"protein_names": "",
"related_func_ids": "F021211",
"category": "enzyme family",
"subcategories": "",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": []
},
{
"targ_id": "T162001",
"parent_targ_id": "T162",
"full_name": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",
"abbrev": "MCCase subunit alpha",
"protein_names": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCase subunit alpha) (EC 6.4.1.4) (3-methylcrotonyl-CoA carboxylase 1) (3-methylcrotonyl-CoA carboxylase biotin-containing subunit) (3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha)",
"related_func_ids": "F021211",
"category": "enzyme",
"subcategories": "Ligase",
"Uniport_ID": "Q96RQ3",
"Uniprot_name": "MCCA_HUMAN",
"EC_numbers": "6.4.1.4",
"gene_symbol": "MCCC1",
"gene_synonyms": "MCCA",
"gene_synonyms_links": "",
"gene_name": "Methylcrotonoyl-CoA carboxylase 1",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000078070",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion matrix",
"reaction": "3-methylbut-2-enoyl-CoA + ATP + hydrogencarbonate = ADP + H(+)+ phosphate + trans-3-methylglutaconyl-CoA",
"targ_desciption": "Biotin-attachment subunit of the 3-methylcrotonyl-CoAcarboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step forleucine and isovaleric acid catabolism. {ECO:0000269|PubMed:17360195}.",
"references": []
},
{
"targ_id": "T162002",
"parent_targ_id": "T162",
"full_name": "Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",
"abbrev": "MCCase subunit beta",
"protein_names": "Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCase subunit beta) (EC 6.4.1.4) (3-methylcrotonyl-CoA carboxylase 2) (3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit) (3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta)",
"related_func_ids": "F021211",
"category": "enzyme",
"subcategories": "Ligase",
"Uniport_ID": "Q9HCC0",
"Uniprot_name": "MCCB_HUMAN",
"EC_numbers": "6.4.1.4",
"gene_symbol": "MCCC2",
"gene_synonyms": "MCCB",
"gene_synonyms_links": "",
"gene_name": "Methylcrotonoyl-CoA carboxylase 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000131844",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion matrix",
"reaction": "3-methylbut-2-enoyl-CoA + ATP + hydrogencarbonate = ADP + H(+)+ phosphate + trans-3-methylglutaconyl-CoA",
"targ_desciption": "Carboxyltransferase subunit of the 3-methylcrotonyl-CoAcarboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step forleucine and isovaleric acid catabolism. {ECO:0000269|PubMed:17360195}.",
"references": []
},
{
"targ_id": "T163",
"parent_targ_id": "T",
"full_name": "Propionyl-CoA carboxylase, mitochondrial",
"abbrev": "PCCase",
"protein_names": "",
"related_func_ids": "F021211",
"category": "enzyme family",
"subcategories": "",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": []
},
{
"targ_id": "T163001",
"parent_targ_id": "T163",
"full_name": "Propionyl-CoA carboxylase beta chain, mitochondrial",
"abbrev": "PCCase subunit beta",
"protein_names": "Propionyl-CoA carboxylase beta chain, mitochondrial (PCCase subunit beta) (EC 6.4.1.3) (Propanoyl-CoA:carbon dioxide ligase subunit beta)",
"related_func_ids": "F021211",
"category": "enzyme",
"subcategories": "Ligase",
"Uniport_ID": "P05166",
"Uniprot_name": "PCCB_HUMAN",
"EC_numbers": "6.4.1.3",
"gene_symbol": "PCCB",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Propionyl-CoA carboxylase beta subunit",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000114054",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion matrix",
"reaction": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate; ATP + butanoyl-CoA + hydrogencarbonate = (2S)-ethylmalonyl-CoA+ ADP + H(+) + phosphate",
"targ_desciption": "This is one of the 2 subunits of the biotin-dependentpropionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in thecatabolism of odd chain fatty acids, branched-chain amino acidsisoleucine, threonine, methionine, and valine and other metabolites(PubMed:6765947, PubMed:15890657). Propionyl-CoA carboxylase catalyzesthe carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:6765947, PubMed:15890657). Within theholoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylationof the biotin carried by the biotin carboxyl carrier (BCC) domain,while the beta subunit then transfers the carboxyl group fromcarboxylated biotin to propionyl-CoA (By similarity). Propionyl-CoAcarboxylase also significantly acts on butyryl-CoA/butanoyl-CoA, whichis converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lowerrate (PubMed:6765947). Other alternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA (By similarity).{ECO:0000250|UniProtKB:P79384, ECO:0000250|UniProtKB:Q168G2,ECO:0000269|PubMed:15890657, ECO:0000269|PubMed:6765947}.",
"references": []
},
{
"targ_id": "T163002",
"parent_targ_id": "T163",
"full_name": "Propionyl-CoA carboxylase alpha chain, mitochondrial",
"abbrev": "PCCase subunit alpha",
"protein_names": "Propionyl-CoA carboxylase alpha chain, mitochondrial (PCCase subunit alpha) (EC 6.4.1.3) (Propanoyl-CoA:carbon dioxide ligase subunit alpha)",
"related_func_ids": "F021211",
"category": "enzyme",
"subcategories": "Ligase",
"Uniport_ID": "P05165",
"Uniprot_name": "PCCA_HUMAN",
"EC_numbers": "6.4.1.3",
"gene_symbol": "PCCA",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Propionyl-CoA carboxylase alpha subunit",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000175198",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion matrix",
"reaction": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate; ATP + butanoyl-CoA + hydrogencarbonate = (2S)-ethylmalonyl-CoA+ ADP + H(+) + phosphate",
"targ_desciption": "This is one of the 2 subunits of the biotin-dependentpropionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in thecatabolism of odd chain fatty acids, branched-chain amino acidsisoleucine, threonine, methionine, and valine and other metabolites(PubMed:8434582, PubMed:6765947). Propionyl-CoA carboxylase catalyzesthe carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl-CoA/(S)-methylmalonyl-CoA (PubMed:8434582, PubMed:6765947,PubMed:10101253). Within the holoenzyme, the alpha subunit catalyzesthe ATP-dependent carboxylation of the biotin carried by the biotincarboxyl carrier (BCC) domain, while the beta subunit then transfersthe carboxyl group from carboxylated biotin to propionyl-CoA (Bysimilarity). Propionyl-CoA carboxylase also significantly acts onbutyryl-CoA/butanoyl-CoA, which is converted to ethylmalonyl-CoA/(2S)-ethylmalonyl-CoA at a much lower rate (PubMed:6765947). Otheralternative minor substrates include (2E)-butenoyl-CoA/crotonoyl-CoA(By similarity). {ECO:0000250|UniProtKB:P0DTA4,ECO:0000250|UniProtKB:Q5LUF3, ECO:0000269|PubMed:10101253,ECO:0000269|PubMed:6765947, ECO:0000269|PubMed:8434582}.",
"references": []
},
{
"targ_id": "T164",
"parent_targ_id": "T",
"full_name": "Thiamine transporter 1",
"abbrev": "ThTr-1",
"protein_names": "Thiamine transporter 1 (ThTr-1) (ThTr1) (Solute carrier family 19 member 2) (Thiamine carrier 1) (TC1)",
"related_func_ids": "F021212",
"category": "protein",
"subcategories": "transporter",
"Uniport_ID": "O60779",
"Uniprot_name": "S19A2_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC19A2 THT1 TRMA",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "High-affinity transporter for the intake of thiamine.{ECO:0000269|PubMed:10391222, ECO:0000269|PubMed:10542220}.",
"references": []
},
{
"targ_id": "T165",
"parent_targ_id": "T",
"full_name": "Thiamine transporter 2",
"abbrev": "ThTr-2",
"protein_names": "Thiamine transporter 2 (ThTr-2) (ThTr2) (Solute carrier family 19 member 3)",
"related_func_ids": "F021212",
"category": "protein",
"subcategories": "transporter",
"Uniport_ID": "Q9BZV2",
"Uniprot_name": "S19A3_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC19A3",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mediates high affinity thiamine uptake, probably via a protonanti-port mechanism. Has no folate transport activity.{ECO:0000269|PubMed:11731220}.",
"references": []
},
{
"targ_id": "T166",
"parent_targ_id": "T",
"full_name": "Thiamin pyrophosphokinase 1",
"abbrev": "hTPK1",
"protein_names": "Thiamin pyrophosphokinase 1 (hTPK1) (EC 2.7.6.2) (Placental protein 20) (PP20) (Thiamine pyrophosphokinase 1)",
"related_func_ids": "F021212",
"category": "enzyme",
"subcategories": "",
"Uniport_ID": "Q9H3S4",
"Uniprot_name": "TPK1_HUMAN",
"EC_numbers": "2.7.6.2",
"gene_symbol": "TPK1",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "ATP + thiamine = AMP + H(+) + thiamine diphosphate",
"targ_desciption": "Catalyzes the phosphorylation of thiamine to thiaminepyrophosphate. Can also catalyze the phosphorylation of pyrithiamine topyrithiamine pyrophosphate. {ECO:0000269|PubMed:11342111}.",
"references": []
},
{
"targ_id": "T167",
"parent_targ_id": "T",
"full_name": "S-adenosylmethionine mitochondrial carrier protein",
"abbrev": "Solute carrier family 25 member 26",
"protein_names": "S-adenosylmethionine mitochondrial carrier protein (Mitochondrial S-adenosylmethionine transporter) (Solute carrier family 25 member 26)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "transporter",
"Uniport_ID": "Q70HW3",
"Uniprot_name": "SAMC_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A26",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 26",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000144741",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mitochondrial solute carriers shuttle metabolites,nucleotides, and cofactors through the mitochondrial inner membrane.Specifically mediates the transport of S-adenosylmethionine (SAM) intothe mitochondria. {ECO:0000269|PubMed:14674884,ECO:0000269|PubMed:26522469}.",
"references": []
},
{
"targ_id": "T168",
"parent_targ_id": "T",
"full_name": "Mitochondrial folate transporter/carrier",
"abbrev": "Solute carrier family 25 member 32",
"protein_names": "Mitochondrial folate transporter/carrier (Solute carrier family 25 member 32)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "transporter",
"Uniport_ID": "Q9H2D1",
"Uniprot_name": "MFTC_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A32",
"gene_synonyms": "MFTC",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 32",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000164933",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Transports folate across the inner membranes of mitochondria(PubMed:15140890, PubMed:29666258). Can also transport FAD across themitochondrial inner membrane (PubMed:16165386).{ECO:0000269|PubMed:15140890, ECO:0000269|PubMed:16165386,ECO:0000269|PubMed:29666258}.",
"references": []
},
{
"targ_id": "T169",
"parent_targ_id": "T",
"full_name": "Calcium-binding mitochondrial carrier protein SCaMC-1",
"abbrev": "Solute carrier family 25 member 24",
"protein_names": "Calcium-binding mitochondrial carrier protein SCaMC-1 (Mitochondrial ATP-Mg/Pi carrier protein 1) (Mitochondrial Ca(2+)-dependent solute carrier protein 1) (Small calcium-binding mitochondrial carrier protein 1) (Solute carrier family 25 member 24)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "transporter",
"Uniport_ID": "Q6NUK1",
"Uniprot_name": "SCMC1_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A24",
"gene_synonyms": "APC1, DKFZp586G0123",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 24",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000085491",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Calcium-dependent mitochondrial solute carrier. Mediates thereversible, electroneutral exchange of Mg-ATP or Mg-ADP againstphosphate ions, catalyzing the net uptake or efflux of adeninenucleotides across the mitochondrial inner membrane. Nucleotidetransport is inactive when cytosolic calcium levels are low, and isactivated by an increase in cytosolic calcium levels. May play a rolein protecting cells against oxidative stress-induced cell death,probably by promoting the formation of calcium-phosphate precipitatesin the mitochondrial matrix, and thereby buffering calcium levels inthe mitochondrial matrix. {ECO:0000269|PubMed:15123600,ECO:0000269|PubMed:22015608, ECO:0000269|PubMed:29100093}.",
"references": []
},
{
"targ_id": "T170",
"parent_targ_id": "T",
"full_name": "Acetyl-coenzyme A transporter 1",
"abbrev": "Solute carrier family 33 member 1",
"protein_names": "Acetyl-coenzyme A transporter 1 (AT-1) (Acetyl-CoA transporter 1) (Solute carrier family 33 member 1)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "transporter",
"Uniport_ID": "O00400",
"Uniprot_name": "ACATN_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC33A1 ACATN AT1",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Endoplasmic reticulum membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Probable acetyl-CoA transporter necessary for O-acetylationof gangliosides (PubMed:9096318). Negatively regulates BMP signaling(PubMed:25402622). {ECO:0000269|PubMed:25402622,ECO:0000269|PubMed:9096318}.",
"references": []
},
{
"targ_id": "T171",
"parent_targ_id": "T",
"full_name": "Metal cation symporter ZIP8",
"abbrev": "ZIP-8",
"protein_names": "Metal cation symporter ZIP8 (BCG-induced integral membrane protein in monocyte clone 103 protein) (LIV-1 subfamily of ZIP zinc transporter 6) (LZT-Hs6) (Solute carrier family 39 member 8) (Zrt- and Irt-like protein 8) (ZIP-8)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "transporter",
"Uniport_ID": "Q9C0K1",
"Uniprot_name": "S39A8_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC39A8",
"gene_synonyms": "BIGM103",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 39 member 8",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000138821",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein; Lysosome membrane; Multi-pass membrane protein; Apical cell membrane; Multi-pass membrane protein; Basolateral cell membrane; Multi-pass membrane protein",
"reaction": "hydrogencarbonate(out) + selenite(out) + Zn(2+)(out) =hydrogencarbonate(in) + selenite(in) + Zn(2+)(in); 2 hydrogencarbonate(out) + Zn(2+)(out) = 2hydrogencarbonate(in) + Zn(2+)(in); 2 hydrogencarbonate(out) + Mn(2+)(out) = 2hydrogencarbonate(in) + Mn(2+)(in); Cd(2+)(out) + 2 hydrogencarbonate(out) = Cd(2+)(in) + 2hydrogencarbonate(in); Fe(2+)(in) = Fe(2+)(out); Hg(2+)(in) = Hg(2+)(out); Co(2+)(in) = Co(2+)(out)",
"targ_desciption": "Electroneutral transporter of the plasma membrane mediatingthe cellular uptake of zinc and manganese, two divalent metal cationsimportant for development, tissue homeostasis or immunity(PubMed:12504855, PubMed:22898811, PubMed:23403290, PubMed:29337306,PubMed:26637978, PubMed:29453449). Functions as an energy-dependentsymporter, transporting through the membranes an electroneutral complexcomposed of a divalent metal cation, a bicarbonate and a selenite anionor yet a metal cation and two bicarbonate anions (PubMed:27166256,PubMed:31699897). May also transport iron, mercury and cobalt throughmembranes (PubMed:22898811). Beside these endogenous cellularsubstrates, also imports cadmium a non-essential metal which iscytotoxic and carcinogenic (PubMed:27466201). Through zinc import,indirectly regulates the metal-dependent transcription factor MTF1 andthe expression of some metalloproteases involved in cartilagecatabolism and also probably heart development (PubMed:29337306). Alsoindirectly regulates the expression of proteins involved in cellmorphology and cytoskeleton organization (PubMed:29927450). Indirectlycontrols innate immune function and inflammatory response by regulatingzinc cellular uptake which in turn modulates the expression of genesspecific of these processes (PubMed:23403290, PubMed:28056086).Protects, for instance, cells from injury and death at the onset ofinflammation (PubMed:18390834). By regulating zinc influx intomonocytes also directly modulates their adhesion to endothelial cellsand arteries (By similarity). At the apical membrane of hepatocytes,reclaims manganese from the bile and regulates, through the systemiclevels of the nutrient, the activity of manganese-dependent enzymes(PubMed:28481222). Also participates in manganese reabsorption in theproximal tubule of the kidney (PubMed:26637978). By mediating theextracellular uptake of manganese by cells of the blood-brain barrier,may also play a role in the transport of the micronutrient to the brain(PubMed:26637978, PubMed:31699897). Through manganese cellular uptakealso participates in mitochondrial proper function (PubMed:29453449).Finally, also probably functions intracellularly, translocating zincfrom lysosome to cytosol to indirectly enhance the expression ofspecific genes during TCR-mediated T cell activation (PubMed:19401385).{ECO:0000250|UniProtKB:Q91W10, ECO:0000269|PubMed:12504855,ECO:0000269|PubMed:18390834, ECO:0000269|PubMed:19401385,ECO:0000269|PubMed:22898811, ECO:0000269|PubMed:23403290,ECO:0000269|PubMed:26637978, ECO:0000269|PubMed:27166256,ECO:0000269|PubMed:27466201, ECO:0000269|PubMed:28056086,ECO:0000269|PubMed:28481222, ECO:0000269|PubMed:29337306,ECO:0000269|PubMed:29453449, ECO:0000269|PubMed:29927450,ECO:0000269|PubMed:31699897}.",
"references": []
},
{
"targ_id": "T172",
"parent_targ_id": "T",
"full_name": "Selenocysteine insertion sequence-binding protein 2",
"abbrev": "SECIS-binding protein 2",
"protein_names": "Selenocysteine insertion sequence-binding protein 2 (SECIS-binding protein 2)",
"related_func_ids": "F020721",
"category": "enzyme",
"subcategories": "",
"Uniport_ID": "Q96T21",
"Uniprot_name": "SEBP2_HUMAN",
"EC_numbers": "",
"gene_symbol": "SECISBP2 SBP2",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "[Isoform 1]: Nucleus; [Isoform 2]: Mitochondrion",
"reaction": "",
"targ_desciption": "Binds to the SECIS element in the 3'-UTR of some mRNAsencoding selenoproteins. Binding is stimulated by SELB.",
"references": []
},
{
"targ_id": "T173",
"parent_targ_id": "T",
"full_name": "O-phosphoseryl-tRNA(Sec) selenium transferase",
"abbrev": "Sec",
"protein_names": "O-phosphoseryl-tRNA(Sec) selenium transferase (EC 2.9.1.2) (Liver-pancreas antigen) (LP) (SLA-p35) (SLA/LP autoantigen) (Selenocysteine synthase) (Sec synthase) (Selenocysteinyl-tRNA(Sec) synthase) (Sep-tRNA:Sec-tRNA synthase) (SepSecS) (Soluble liver antigen) (SLA) (UGA suppressor tRNA-associated protein) (tRNA(Ser/Sec)-associated antigenic protein)",
"related_func_ids": "F020721",
"category": "enzyme",
"subcategories": "",
"Uniport_ID": "Q9HD40",
"Uniprot_name": "SPCS_HUMAN",
"EC_numbers": "2.9.1.2",
"gene_symbol": "SEPSECS TRNP48",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cytoplasm",
"reaction": "H2O + O-phospho-L-seryl-tRNA(Sec) + selenophosphate = L-selenocysteinyl-tRNA(Sec) + 2 phosphate",
"targ_desciption": "Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.{ECO:0000269|PubMed:17142313}.",
"references": []
},
{
"targ_id": "T174",
"parent_targ_id": "T",
"full_name": "NAD kinase 2, mitochondrial",
"abbrev": "Mitochondrial NAD kinase",
"protein_names": "NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitochondrial NAD kinase) (NAD kinase domain-containing protein 1, mitochondrial)",
"related_func_ids": "F021202",
"category": "enzyme",
"subcategories": "Kinase, Transferase",
"Uniport_ID": "Q4G0N4",
"Uniprot_name": "NAKD2_HUMAN",
"EC_numbers": "2.7.1.23",
"gene_symbol": "NADK2",
"gene_synonyms": "C5orf33, FLJ30596, MNADK, NADKD1",
"gene_synonyms_links": "",
"gene_name": "NAD kinase 2, mitochondrial",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000152620",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "ATP + NAD(+) = ADP + H(+) + NADP(+)",
"targ_desciption": "Mitochondrial NAD(+) kinase that phosphorylates NAD(+) toyield NADP(+). Can use both ATP or inorganic polyphosphate as thephosphoryl donor. Also has weak NADH kinase activity in vitro. howeverNADH kinase activity is much weaker than the NAD(+) kinase activity andmay not be relevant in vivo. {ECO:0000269|PubMed:23212377}.",
"references": []
},
{
"targ_id": "T175",
"parent_targ_id": "T",
"full_name": "ATP-dependent (S)-NAD(P)H-hydrate dehydratase",
"abbrev": "",
"protein_names": "ATP-dependent (S)-NAD(P)H-hydrate dehydratase (EC 4.2.1.93) (ATP-dependent NAD(P)HX dehydratase) (Carbohydrate kinase domain-containing protein) (NAD(P)HX dehydratase)",
"related_func_ids": "F021202",
"category": "enzyme",
"subcategories": "Lyase",
"Uniport_ID": "Q8IW45",
"Uniprot_name": "NNRD_HUMAN",
"EC_numbers": "4.2.1.93",
"gene_symbol": "NAXD",
"gene_synonyms": "CARKD, FLJ10769, LP3298",
"gene_synonyms_links": "",
"gene_name": "NAD(P)HX dehydratase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000213995",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "(6S)-NADHX + ATP = ADP + H(+) + NADH + phosphate; (6S)-NADPHX + ATP = ADP + H(+) + NADPH + phosphate",
"targ_desciption": "Catalyzes the dehydration of the S-form of NAD(P)HX at theexpense of ATP, which is converted to ADP. Together with NAD(P)HXepimerase, which catalyzes the epimerization of the S- and R-forms, theenzyme allows the repair of both epimers of NAD(P)HX, a damaged form ofNAD(P)H that is a result of enzymatic or heat-dependent hydration.{ECO:0000255|HAMAP-Rule:MF_03157, ECO:0000269|PubMed:30576410}.",
"references": []
},
{
"targ_id": "T176",
"parent_targ_id": "T",
"full_name": "NAD(P)H-hydrate epimerase",
"abbrev": "",
"protein_names": "NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipoprotein A-I-binding protein) (AI-BP) (NAD(P)HX epimerase) (YjeF N-terminal domain-containing protein 1) (YjeF_N1)",
"related_func_ids": "F021202",
"category": "enzyme",
"subcategories": "Isomerase",
"Uniport_ID": "Q8NCW5",
"Uniprot_name": "NNRE_HUMAN",
"EC_numbers": "5.1.99.6",
"gene_symbol": "NAXE",
"gene_synonyms": "AIBP, APOA1BP, MGC119143, MGC119144, MGC119145, YJEFN1",
"gene_synonyms_links": "",
"gene_name": "NAD(P)HX epimerase",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000163382",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion; Secreted;",
"reaction": "(6R)-NADHX = (6S)-NADHX; (6R)-NADPHX = (6S)-NADPHX",
"targ_desciption": "Catalyzes the epimerization of the S- and R-forms ofNAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic orheat-dependent hydration. This is a prerequisite for the S-specificNAD(P)H-hydrate dehydratase to allow the repair of both epimers ofNAD(P)HX. Accelerates cholesterol efflux from endothelial cells tohigh-density lipoprotein (HDL) and thereby regulates angiogenesis(PubMed:23719382). {ECO:0000255|HAMAP-Rule:MF_03159,ECO:0000269|PubMed:23719382, ECO:0000269|PubMed:27616477}.",
"references": []
},
{
"targ_id": "T177",
"parent_targ_id": "T",
"full_name": "FAD synthase",
"abbrev": "",
"protein_names": "FAD synthase (EC 2.7.7.2) (FAD pyrophosphorylase) (FMN adenylyltransferase) (Flavin adenine dinucleotide synthase) [Includes: Molybdenum cofactor biosynthesis protein-like region; FAD synthase region]",
"related_func_ids": "F021213",
"category": "enzyme",
"subcategories": "Nucleotidyltransferase, Transferase",
"Uniport_ID": "Q8NFF5",
"Uniprot_name": "FAD1_HUMAN",
"EC_numbers": "2.7.7.2",
"gene_symbol": "FLAD1",
"gene_synonyms": "FAD1, PP591",
"gene_synonyms_links": "",
"gene_name": "Flavin adenine dinucleotide synthetase 1",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000160688",
"omim_id": "",
"genecard_link": "",
"locs": "[Isoform 1]: Mitochondrion matrix; [Isoform 2]: Cytoplasm",
"reaction": "ATP + FMN + H(+) = diphosphate + FAD",
"targ_desciption": "Catalyzes the adenylation of flavin mononucleotide (FMN) toform flavin adenine dinucleotide (FAD) coenzyme.{ECO:0000269|PubMed:16643857, ECO:0000269|PubMed:27259049}.",
"references": []
},
{
"targ_id": "T178",
"parent_targ_id": "T",
"full_name": "Solute carrier family 52, riboflavin transporter, member 2",
"abbrev": "",
"protein_names": "Solute carrier family 52, riboflavin transporter, member 2 (Porcine endogenous retrovirus A receptor 1) (PERV-A receptor 1) (Protein GPR172A) (Riboflavin transporter 3) (hRFT3)",
"related_func_ids": "F021213",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9HAB3",
"Uniprot_name": "S52A2_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC52A2 GPR172A PAR1 RFT3",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein",
"reaction": "riboflavin(in) = riboflavin(out)",
"targ_desciption": "Plasma membrane transporter mediating the uptake by cells ofthe water soluble vitamin B2/riboflavin that plays a key role inbiochemical oxidation-reduction reactions of the carbohydrate, lipid,and amino acid metabolism (PubMed:20463145, PubMed:22864630,PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unableto synthesize vitamin B2/riboflavin and must obtain it via intestinalabsorption (PubMed:20463145). May also act as a receptor for 4-hydroxybutyrate (Probable). {ECO:0000269|PubMed:20463145,ECO:0000269|PubMed:22864630, ECO:0000269|PubMed:23243084,ECO:0000269|PubMed:24253200, ECO:0000269|PubMed:27702554,ECO:0000303|PubMed:20463145, ECO:0000305|PubMed:17197387}.; (Microbial infection) In case of infection by retroviruses,acts as a cell receptor to retroviral envelopes similar to the porcineendogenous retrovirus (PERV-A). {ECO:0000269|PubMed:12740431,ECO:0000269|PubMed:19307586}.",
"references": []
},
{
"targ_id": "T179",
"parent_targ_id": "T",
"full_name": "Solute carrier family 52, riboflavin transporter, member 3",
"abbrev": "",
"protein_names": "Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFT2)",
"related_func_ids": "F021213",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9NQ40",
"Uniprot_name": "S52A3_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC52A3 C20orf54 RFT2 RFVT3",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Apical cell membrane; Multi-pass membrane protein; Cell membrane; [Isoform 1]: Cell membrane; Multi-pass membrane protein; Nucleus membrane; Multi-pass membrane protein; Cytoplasm; [Isoform 2]: Cytoplasm",
"reaction": "riboflavin(in) = riboflavin(out)",
"targ_desciption": "Plasma membrane transporter mediating the uptake by cells ofthe water soluble vitamin B2/riboflavin that plays a key role inbiochemical oxidation-reduction reactions of the carbohydrate, lipid,and amino acid metabolism (PubMed:20463145, PubMed:22273710,PubMed:24264046, PubMed:27702554). Humans are unable to synthesizevitamin B2/riboflavin and must obtain it via intestinal absorption(PubMed:20463145). {ECO:0000269|PubMed:20463145,ECO:0000269|PubMed:22273710, ECO:0000269|PubMed:24264046,ECO:0000269|PubMed:27702554, ECO:0000303|PubMed:20463145}.",
"references": []
},
{
"targ_id": "T180",
"parent_targ_id": "T",
"full_name": "MAS",
"abbrev": "MAS",
"protein_names": "",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": []
},
{
"targ_id": "T181",
"parent_targ_id": "T",
"full_name": "Glycerol-3-phosphate dehydrogenase, mitochondrial",
"abbrev": "mGDH",
"protein_names": "Glycerol-3-phosphate dehydrogenase, mitochondrial (GPD-M) (GPDH-M) (EC 1.1.5.3) (mitohondrial glycerophosphate dehydrogenase gene) (mGDH) (mtGPD)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter, Oxidoreductase",
"Uniport_ID": "P43304",
"Uniprot_name": "GPDM_HUMAN",
"EC_numbers": "1.1.5.3",
"gene_symbol": "GPD2",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Glycerol-3-phosphate dehydrogenase 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000115159",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion",
"reaction": "a quinone + sn-glycerol 3-phosphate = a quinol +dihydroxyacetone phosphate",
"targ_desciption": "Calcium-responsive mitochondrial glycerol-3-phosphatedehydrogenase which seems to be a key component of the pancreatic beta-cell glucose-sensing device. {ECO:0000269|PubMed:9070847}.",
"references": [
"RC01483",
"RC01484",
"RC01485",
"RC01486",
"RC01487",
"RC01488",
"RC01489",
"RC01490",
"RC01491",
"RC01492",
"RC01493",
"RC01494",
"RC01495",
"RC01496",
"RC01497",
"RC01498",
"RC01499",
"RC01500",
"RC01501",
"RC01502",
"RC01503",
"RC01504",
"RC01505",
"RC01506",
"RC01507",
"RC01508",
"RC01509",
"RC01510",
"RC01511",
"RC01512",
"RC01513",
"RC01514",
"RC01515",
"RC01516",
"RC01517",
"RC01518",
"RC01519",
"RC01520",
"RC01521",
"RC01522",
"RC01523",
"RC01524",
"RC01525",
"RC01526",
"RC01527",
"RC01528",
"RC01529",
"RC01530",
"RC01531",
"RC01532",
"RC01533",
"RC01534",
"RC01535",
"RC01536",
"RC01537",
"RC01538",
"RC01539",
"RC01540",
"RC01541",
"RC01542",
"RC01543",
"RC01544",
"RC01545",
"RC01546",
"RC01547",
"RC01548",
"RC01549",
"RC01550",
"RC01551",
"RC01552",
"RC01553",
"RC01554",
"RC01555",
"RC01556",
"RC01557",
"RC01558",
"RC01559",
"RC01560",
"RC01561",
"RC01562",
"RC01563",
"RC01564",
"RC01565",
"RC01566",
"RC01567",
"RC01568",
"RC01569",
"RC03456",
"RC03460",
"RC03467",
"RC03468",
"RC03469",
"RC03470",
"RC03478",
"RC03479",
"RC03480",
"RC03481"
]
},
{
"targ_id": "T182",
"parent_targ_id": "T",
"full_name": "Mitochondrial glutamate carrier 2",
"abbrev": "Solute carrier family 25 member 18",
"protein_names": "Mitochondrial glutamate carrier 2 (GC-2) (Glutamate/H(+) symporter 2) (Solute carrier family 25 member 18)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9H1K4",
"Uniprot_name": "GHC2_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A18",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 18",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000182902",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Involved in the transport of glutamate across the innermitochondrial membrane. Glutamate is cotransported with H(+).{ECO:0000269|PubMed:11897791}.",
"references": []
},
{
"targ_id": "T183",
"parent_targ_id": "T",
"full_name": "Mitochondrial glutamate carrier 1",
"abbrev": "Solute carrier family 25 member 22",
"protein_names": "Mitochondrial glutamate carrier 1 (GC-1) (Glutamate/H(+) symporter 1) (Solute carrier family 25 member 22)",
"related_func_ids": "F021101; F021103",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9H936",
"Uniprot_name": "GHC1_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A22",
"gene_synonyms": "EIEE3, FLJ13044, GC1, NET44",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 22",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000177542",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Involved in the transport of glutamate across the innermitochondrial membrane. Glutamate is cotransported with H(+).{ECO:0000269|PubMed:11897791}.",
"references": []
},
{
"targ_id": "T184",
"parent_targ_id": "T",
"full_name": "Mitochondrial dicarboxylate carrier",
"abbrev": "Solute carrier family 25 member 10",
"protein_names": "Mitochondrial dicarboxylate carrier (Solute carrier family 25 member 10)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9UBX3",
"Uniprot_name": "DIC_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A10",
"gene_synonyms": "DIC",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 10",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000183048",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Involved in translocation of malonate, malate and succinatein exchange for phosphate, sulfate, sulfite or thiosulfate acrossmitochondrial inner membrane.",
"references": []
},
{
"targ_id": "T185",
"parent_targ_id": "T",
"full_name": "Mitochondrial 2-oxoglutarate/malate carrier protein",
"abbrev": "Solute carrier family 25 member 11",
"protein_names": "Mitochondrial 2-oxoglutarate/malate carrier protein (OGCP) (Solute carrier family 25 member 11)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q02978",
"Uniprot_name": "M2OM_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A11",
"gene_synonyms": "OGC, SLC20A4",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 11",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000108528",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Catalyzes the transport of 2-oxoglutarate across the innermitochondrial membrane in an electroneutral exchange for malate orother dicarboxylic acids, and plays an important role in severalmetabolic processes, including the malate-aspartate shuttle, theoxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, andin nitrogen metabolism. Maintains mitochondrial fusion and fissionevents, and the organization and morphology of cristae(PubMed:21448454). Involved in the regulation of apoptosis (Bysimilarity). Acts as a tumor-suppressor gene implicated in thepredisposition to metastatic paraganglioma.{ECO:0000250|UniProtKB:P97700, ECO:0000250|UniProtKB:Q9CR62,ECO:0000269|PubMed:21448454, ECO:0000269|PubMed:29431636}.",
"references": []
},
{
"targ_id": "T186",
"parent_targ_id": "T",
"full_name": "Calcium-binding mitochondrial carrier protein Aralar1",
"abbrev": "Solute carrier family 25 member 12",
"protein_names": "Calcium-binding mitochondrial carrier protein Aralar1 (Mitochondrial aspartate glutamate carrier 1) (Solute carrier family 25 member 12)",
"related_func_ids": "F021102; F021103",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "O75746",
"Uniprot_name": "CMC1_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A12",
"gene_synonyms": "Aralar",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 12",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000115840",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mitochondrial and calcium-binding carrier that catalyzes thecalcium-dependent exchange of cytoplasmic glutamate with mitochondrialaspartate across the mitochondrial inner membrane (PubMed:11566871,PubMed:25410934). May have a function in the urea cycle(PubMed:11566871). {ECO:0000269|PubMed:11566871,ECO:0000269|PubMed:25410934}.",
"references": []
},
{
"targ_id": "T187",
"parent_targ_id": "T",
"full_name": "Calcium-binding mitochondrial carrier protein Aralar2",
"abbrev": "Solute carrier family 25 member 13",
"protein_names": "Calcium-binding mitochondrial carrier protein Aralar2 (Citrin) (Mitochondrial aspartate glutamate carrier 2) (Solute carrier family 25 member 13)",
"related_func_ids": "F021102; F021103",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9UJS0",
"Uniprot_name": "CMC2_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A13",
"gene_synonyms": "ARALAR2, CITRIN, CTLN2",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 13",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000004864",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mitochondrial and calcium-binding carrier that catalyzes thecalcium-dependent exchange of cytoplasmic glutamate with mitochondrialaspartate across the mitochondrial inner membrane (PubMed:11566871,PubMed:25410934). May have a function in the urea cycle(PubMed:11566871). {ECO:0000269|PubMed:11566871,ECO:0000269|PubMed:25410934}.",
"references": []
},
{
"targ_id": "T188",
"parent_targ_id": "T",
"full_name": "Mitochondrial basic amino acids transporter",
"abbrev": "Mitochondrial ornithine transporter 3",
"protein_names": "Mitochondrial basic amino acids transporter (Carnitine/acylcarnitine translocase-like) (CACT-like) (Mitochondrial carnitine/acylcarnitine carrier protein CACL) (Mitochondrial ornithine transporter 3) (Solute carrier family 25 member 29)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q8N8R3",
"Uniprot_name": "MCATL_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A29",
"gene_synonyms": "C14orf69, FLJ38975",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 29",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000197119",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Transports arginine, lysine, homoarginine, methylarginineand, to a much lesser extent, ornithine and histidine(PubMed:24652292). Can restore ornithine transport in cells lacking theprimary mitochondrial ornithine transporter SLC25A15 (PubMed:19287344).Does not transport carnitine nor acylcarnitines (PubMed:24652292).Functions by both counter-exchange and uniport mechanisms(PubMed:24652292). {ECO:0000269|PubMed:19287344,ECO:0000269|PubMed:24652292}.",
"references": []
},
{
"targ_id": "T189",
"parent_targ_id": "T",
"full_name": "Mitochondrial ornithine transporter 1",
"abbrev": "Solute carrier family 25 member 15",
"protein_names": "Mitochondrial ornithine transporter 1 (Solute carrier family 25 member 15)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9Y619",
"Uniprot_name": "ORNT1_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A15",
"gene_synonyms": "D13S327, HHH, ORC1, ORNT1",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 15",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000102743",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Ornithine-citrulline antiporter. Connects the cytosolic andthe intramitochondrial reactions of the urea cycle by exchangingcytosolic ornithine with matrix citrulline (PubMed:12807890). Thestoichiometry is close to 1:1 (By similarity).{ECO:0000250|UniProtKB:A0A0G2K309, ECO:0000269|PubMed:12807890}.",
"references": []
},
{
"targ_id": "T190",
"parent_targ_id": "T",
"full_name": "Mitochondrial ornithine transporter 2",
"abbrev": "Solute carrier family 25 member 2",
"protein_names": "Mitochondrial ornithine transporter 2 (Solute carrier family 25 member 2)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9BXI2",
"Uniprot_name": "ORNT2_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A2",
"gene_synonyms": "ORNT2",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000120329",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Ornithine transport across inner mitochondrial membrane, fromthe cytoplasm to the matrix.",
"references": []
},
{
"targ_id": "T191",
"parent_targ_id": "T",
"full_name": "Mitochondrial thiamine pyrophosphate carrier",
"abbrev": "Solute carrier family 25 member 19",
"protein_names": "Mitochondrial thiamine pyrophosphate carrier (Mitochondrial uncoupling protein 1) (Solute carrier family 25 member 19)",
"related_func_ids": "F0211; F021212",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9HC21",
"Uniprot_name": "TPC_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A19",
"gene_synonyms": "DNC, MCPHA, MUP1, TPC",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 19",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000125454",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mitochondrial transporter mediating uptake of thiaminepyrophosphate (ThPP) into mitochondria. {ECO:0000269|PubMed:18280798}.",
"references": []
},
{
"targ_id": "T192",
"parent_targ_id": "T",
"full_name": "ADP/ATP translocase 1",
"abbrev": "ANT 1",
"protein_names": "ADP/ATP translocase 1 (ADP,ATP carrier protein 1) (ADP,ATP carrier protein, heart/skeletal muscle isoform T1) (Adenine nucleotide translocator 1) (ANT 1) (Solute carrier family 25 member 4)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "P12235",
"Uniprot_name": "ADT1_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A4",
"gene_synonyms": "ANT1, PEO2, PEO3, T1",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 4",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000151729",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Involved in mitochondrial ADP/ATP transport. Catalyzes theexchange of cytoplasmic ADP with mitochondrial ATP across themitochondrial inner membrane. {ECO:0000269|PubMed:27693233}.",
"references": [
"RC01245",
"RC01246"
]
},
{
"targ_id": "T193",
"parent_targ_id": "T",
"full_name": "ADP/ATP translocase 2",
"abbrev": "ANT 2",
"protein_names": "ADP/ATP translocase 2 (ADP,ATP carrier protein 2) (ADP,ATP carrier protein, fibroblast isoform) (Adenine nucleotide translocator 2) (ANT 2) (Solute carrier family 25 member 5) [Cleaved into: ADP/ATP translocase 2, N-terminally processed]",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "P05141",
"Uniprot_name": "ADT2_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A5",
"gene_synonyms": "2F1, ANT2, T2, T3",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 5",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000005022",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Catalyzes the exchange of cytoplasmic ADP with mitochondrialATP across the mitochondrial inner membrane. As part of the mitoticspindle-associated MMXD complex it may play a role in chromosomesegregation. {ECO:0000269|PubMed:20797633}.",
"references": []
},
{
"targ_id": "T194",
"parent_targ_id": "T",
"full_name": "ADP/ATP translocase 3",
"abbrev": "ANT 3",
"protein_names": "ADP/ATP translocase 3 (ADP,ATP carrier protein 3) (ADP,ATP carrier protein, isoform T2) (ANT 2) (Adenine nucleotide translocator 3) (ANT 3) (Solute carrier family 25 member 6) [Cleaved into: ADP/ATP translocase 3, N-terminally processed]",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "P12236",
"Uniprot_name": "ADT3_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A6",
"gene_synonyms": "ANT3, ANT3Y, MGC17525",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 6",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000169100",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Catalyzes the exchange of cytoplasmic ADP with mitochondrialATP across the mitochondrial inner membrane. May participate in theformation of the permeability transition pore complex (PTPC)responsible for the release of mitochondrial products that triggersapoptosis. {ECO:0000269|PubMed:15033708}.",
"references": []
},
{
"targ_id": "T195",
"parent_targ_id": "T",
"full_name": "Mitochondrial pyruvate carrier",
"abbrev": "MPC",
"protein_names": "Mitochondrial pyruvate carrier",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q5TI65",
"Uniprot_name": "Q5TI65_HUMAN",
"EC_numbers": "",
"gene_symbol": "MPC1 BRP44L hCG_15016",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Membrane; Multi-pass membrane protein; Mitochondrioninner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mediates the uptake of pyruvate into mitochondria.{ECO:0000256|RuleBase:RU363100}.",
"references": [
"RC00920",
"RC00972"
]
},
{
"targ_id": "T196",
"parent_targ_id": "T",
"full_name": "Monocarboxylate transporter 1",
"abbrev": "SLC16A1",
"protein_names": "Monocarboxylate transporter 1 (MCT 1) (Solute carrier family 16 member 1)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "P53985",
"Uniprot_name": "MOT1_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC16A1 MCT1",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Proton-coupled monocarboxylate transporter. Catalyzes therapid transport across the plasma membrane of many monocarboxylatessuch as lactate, pyruvate, branched-chain oxo acids derived fromleucine, valine and isoleucine, and the ketone bodies acetoacetate,beta-hydroxybutyrate and acetate. Depending on the tissue and oncicumstances, mediates the import or export of lactic acid and ketonebodies. Required for normal nutrient assimilation, increase of whiteadipose tissue and body weight gain when on a high-fat diet. Plays arole in cellular responses to a high-fat diet by modulating thecellular levels of lactate and pyruvate, small molecules thatcontribute to the regulation of central metabolic pathways and insulinsecretion, with concomitant effects on plasma insulin levels and bloodglucose homeostasis. {ECO:0000269|PubMed:17701893}.",
"references": []
},
{
"targ_id": "T197",
"parent_targ_id": "T",
"full_name": "ATP-binding cassette sub-family B member 6, mitochondrial",
"abbrev": "Mitochondrial ABC transporter 3",
"protein_names": "ATP-binding cassette sub-family B member 6, mitochondrial (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)",
"related_func_ids": "F0211; F021205",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9NP58",
"Uniprot_name": "ABCB6_HUMAN",
"EC_numbers": "",
"gene_symbol": "ABCB6",
"gene_synonyms": "EST45597, MTABC3, umat",
"gene_synonyms_links": "",
"gene_name": "ATP binding cassette subfamily B member 6 (Langereis blood group)",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000115657",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein; Mitochondrion outer membrane; Multi-pass membrane protein; Endoplasmic reticulum membrane; Multi-pass membrane protein; Golgi apparatus membrane; Multi-pass membrane protein; Endosome membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in hemesynthesis. {ECO:0000269|PubMed:10837493, ECO:0000269|PubMed:17006453}.",
"references": []
},
{
"targ_id": "T198",
"parent_targ_id": "T",
"full_name": "ATP-binding cassette sub-family B member 7, mitochondrial",
"abbrev": "ABC transporter 7 protein",
"protein_names": "ATP-binding cassette sub-family B member 7, mitochondrial (ATP-binding cassette transporter 7) (ABC transporter 7 protein)",
"related_func_ids": "F0211; F031101",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "O75027",
"Uniprot_name": "ABCB7_HUMAN",
"EC_numbers": "",
"gene_symbol": "ABCB7",
"gene_synonyms": "ABC7, ASAT, Atm1p, EST140535",
"gene_synonyms_links": "",
"gene_name": "ATP binding cassette subfamily B member 7",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000131269",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Could be involved in the transport of heme from themitochondria to the cytosol. Plays a central role in the maturation ofcytosolic iron-sulfur (Fe/S) cluster-containing proteins.{ECO:0000269|PubMed:10196363}.",
"references": []
},
{
"targ_id": "T199",
"parent_targ_id": "T",
"full_name": "ATP-binding cassette sub-family B member 10, mitochondrial",
"abbrev": "ABC transporter 10 protein",
"protein_names": "ATP-binding cassette sub-family B member 10, mitochondrial (ATP-binding cassette transporter 10) (ABC transporter 10 protein) (Mitochondrial ATP-binding cassette 2) (M-ABC2)",
"related_func_ids": "F0211",
"category": "protein",
"subcategories": "Transporter",
"Uniport_ID": "Q9NRK6",
"Uniprot_name": "ABCBA_HUMAN",
"EC_numbers": "",
"gene_symbol": "ABCB10",
"gene_synonyms": "EST20237, M-ABC2, MTABC2",
"gene_synonyms_links": "",
"gene_name": "ATP binding cassette subfamily B member 10",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000135776",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "May mediate critical mitochondrial transport functionsrelated to heme biosynthesis. {ECO:0000250|UniProtKB:Q9JI39}.",
"references": []
},
{
"targ_id": "T200",
"parent_targ_id": "T",
"full_name": "ADP-ribosylation factor-like protein 2",
"abbrev": "",
"protein_names": "ADP-ribosylation factor-like protein 2",
"related_func_ids": "F0811",
"category": "protein",
"subcategories": "",
"Uniport_ID": "P36404",
"Uniprot_name": "ARL2_HUMAN",
"EC_numbers": "",
"gene_symbol": "ARL2",
"gene_synonyms": "ARFL2",
"gene_synonyms_links": "",
"gene_name": "ADP ribosylation factor like GTPase 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000213465",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion intermembrane space; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Nucleus; Cytoplasm",
"reaction": "",
"targ_desciption": "Small GTP-binding protein which cycles between an inactiveGDP-bound and an active GTP-bound form, and the rate of cycling isregulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as anallosteric activator of the cholera toxin catalytic subunit. Regulatesformation of new microtubules and centrosome integrity. Prevents theTBCD-induced microtubule destruction. Participates in association withTBCD, in the disassembly of the apical junction complexes. Antagonizesthe effect of TBCD on epithelial cell detachment and tight and adherensjunctions disassembly. Together with ARL2, plays a role in the nucleartranslocation, retention and transcriptional activity of STAT3.Component of a regulated secretory pathway involved in Ca(2+)-dependentrelease of acetylcholine. Required for normal progress through the cellcycle. {ECO:0000269|PubMed:10831612, ECO:0000269|PubMed:16525022,ECO:0000269|PubMed:18234692, ECO:0000269|PubMed:18588884,ECO:0000269|PubMed:20740604}.",
"references": []
},
{
"targ_id": "T201",
"parent_targ_id": "T",
"full_name": "Translocator protein",
"abbrev": "PKBS",
"protein_names": "Translocator protein (Mitochondrial benzodiazepine receptor) (PKBS) (Peripheral-type benzodiazepine receptor) (PBR)",
"related_func_ids": "F0211; F020604; F021205",
"category": "protein",
"subcategories": "",
"Uniport_ID": "P30536",
"Uniprot_name": "TSPO_HUMAN",
"EC_numbers": "",
"gene_symbol": "TSPO BZRP MBR",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Can bind protoporphyrin IX and may play a role in thetransport of porphyrins and heme (By similarity). Promotes thetransport of cholesterol across mitochondrial membranes and may play arole in lipid metabolism (PubMed:24814875), but its precisephysiological role is controversial. It is apparently not required forsteroid hormone biosynthesis. Was initially identified as peripheral-type benzodiazepine receptor. can also bind isoquinoline carboxamides(PubMed:1847678). {ECO:0000250, ECO:0000269|PubMed:1847678,ECO:0000269|PubMed:24814875}.",
"references": []
},
{
"targ_id": "T202",
"parent_targ_id": "T",
"full_name": "Glutaredoxin-2, mitochondrial",
"abbrev": "",
"protein_names": "Glutaredoxin-2, mitochondrial",
"related_func_ids": "F0211",
"category": "enzyme",
"subcategories": "oxidoreductase",
"Uniport_ID": "Q9NS18",
"Uniprot_name": "GLRX2_HUMAN",
"EC_numbers": "",
"gene_symbol": "GLRX2",
"gene_synonyms": "bA101E13.1, GRX2",
"gene_synonyms_links": "",
"gene_name": "Glutaredoxin 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000023572",
"omim_id": "",
"genecard_link": "",
"locs": "[Isoform 1]: Mitochondrion; [Isoform 2]: Nucleus",
"reaction": "",
"targ_desciption": "Glutathione-dependent oxidoreductase that facilitates themaintenance of mitochondrial redox homeostasis upon induction ofapoptosis by oxidative stress. Involved in response to hydrogenperoxide and regulation of apoptosis caused by oxidative stress. Actsas a very efficient catalyst of monothiol reactions because of its highaffinity for protein glutathione-mixed disulfides. Can receiveelectrons not only from glutathione (GSH), but also from thioredoxinreductase supporting both monothiol and dithiol reactions. Efficientlycatalyzes both glutathionylation and deglutathionylation ofmitochondrial complex I, which in turn regulates the superoxideproduction by the complex. Overexpression decreases the susceptibilityto apoptosis and prevents loss of cardiolipin and cytochrome c release.{ECO:0000269|PubMed:11297543, ECO:0000269|PubMed:14676218,ECO:0000269|PubMed:15328416, ECO:0000269|PubMed:15649413}.",
"references": []
},
{
"targ_id": "T203",
"parent_targ_id": "T",
"full_name": "TIM complexes",
"abbrev": "TIM complex ",
"protein_names": "",
"related_func_ids": "F021102",
"category": "enzyme family",
"subcategories": "translocase group",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": []
},
{
"targ_id": "T203001",
"parent_targ_id": "T203",
"full_name": "Mitochondrial import inner membrane translocase subunit Tim22",
"abbrev": "TIM22",
"protein_names": "Mitochondrial import inner membrane translocase subunit Tim22 (Testis-expressed protein 4)",
"related_func_ids": "F021102",
"category": "enzyme",
"subcategories": "translocase",
"Uniport_ID": "Q9Y584",
"Uniprot_name": "TIM22_HUMAN",
"EC_numbers": "",
"gene_symbol": "TIMM22",
"gene_synonyms": "TEX4, TIM22",
"gene_synonyms_links": "",
"gene_name": "Translocase of inner mitochondrial membrane 22",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000177370",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Essential core component of the TIM22 complex, a complex thatmediates the import and insertion of multi-pass transmembrane proteinsinto the mitochondrial inner membrane. In the TIM22 complex, itconstitutes the voltage-activated and signal-gated channel. Forms atwin-pore translocase that uses the membrane potential as externaldriving force in 2 voltage-dependent steps (By similarity).{ECO:0000250|UniProtKB:Q12328}.",
"references": []
},
{
"targ_id": "T203002",
"parent_targ_id": "T203",
"full_name": "Mitochondrial import inner membrane translocase subunit Tim23",
"abbrev": "TIM23",
"protein_names": "Mitochondrial import inner membrane translocase subunit Tim23",
"related_func_ids": "F021102",
"category": "enzyme",
"subcategories": "translocase",
"Uniport_ID": "O14925",
"Uniprot_name": "TIM23_HUMAN",
"EC_numbers": "",
"gene_symbol": "TIMM23",
"gene_synonyms": "TIM23",
"gene_synonyms_links": "",
"gene_name": "Translocase of inner mitochondrial membrane 23",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000265354",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Essential component of the TIM23 complex, a complex thatmediates the translocation of transit peptide-containing proteinsacross the mitochondrial inner membrane. {ECO:0000305|PubMed:10339406}.",
"references": []
},
{
"targ_id": "T204",
"parent_targ_id": "T",
"full_name": "TOM complexes",
"abbrev": "TOM complex ",
"protein_names": "",
"related_func_ids": "F021102",
"category": "enzyme family",
"subcategories": "translocase group",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": []
},
{
"targ_id": "T204001",
"parent_targ_id": "T204",
"full_name": "Mitochondrial import receptor subunit TOM22 homolog",
"abbrev": "TOM22",
"protein_names": "Mitochondrial import receptor subunit TOM22 homolog (hTom22) (1C9-2) (Translocase of outer membrane 22 kDa subunit homolog)",
"related_func_ids": "F021102",
"category": "enzyme",
"subcategories": "translocase",
"Uniport_ID": "Q9NS69",
"Uniprot_name": "TOM22_HUMAN",
"EC_numbers": "",
"gene_symbol": "TOMM22",
"gene_synonyms": "TOM22",
"gene_synonyms_links": "",
"gene_name": "Translocase of outer mitochondrial membrane 22",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000100216",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion outer membrane; Single-pass membrane protein",
"reaction": "",
"targ_desciption": "Central receptor component of the translocase of the outermembrane of mitochondria (TOM complex) responsible for the recognitionand translocation of cytosolically synthesized mitochondrialpreproteins. Together with the peripheral receptor TOM20 functions asthe transit peptide receptor and facilitates the movement ofpreproteins into the translocation pore (PubMed:10982837). Required forthe translocation across the mitochondrial outer membrane of cytochromeP450 monooxygenases (By similarity). {ECO:0000250|UniProtKB:Q75Q41,ECO:0000269|PubMed:10982837}.",
"references": []
},
{
"targ_id": "T204002",
"parent_targ_id": "T204",
"full_name": "Mitochondrial import receptor subunit TOM40 homolog",
"abbrev": "TOM40",
"protein_names": "Mitochondrial import receptor subunit TOM40 homolog (Protein Haymaker) (Translocase of outer membrane 40 kDa subunit homolog) (p38.5)",
"related_func_ids": "F021102",
"category": "enzyme",
"subcategories": "translocase",
"Uniport_ID": "O96008",
"Uniprot_name": "TOM40_HUMAN",
"EC_numbers": "",
"gene_symbol": "TOMM40",
"gene_synonyms": "C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40",
"gene_synonyms_links": "",
"gene_name": "Translocase of outer mitochondrial membrane 40",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000130204",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion outer membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Channel-forming protein essential for import of proteinprecursors into mitochondria. {ECO:0000269|PubMed:15644312}.",
"references": []
},
{
"targ_id": "T204003",
"parent_targ_id": "T204",
"full_name": "Mitochondrial import receptor subunit TOM20 homolog",
"abbrev": "TOM20",
"protein_names": "Mitochondrial import receptor subunit TOM20 homolog (Mitochondrial 20 kDa outer membrane protein) (Outer mitochondrial membrane receptor Tom20)",
"related_func_ids": "F021102",
"category": "enzyme",
"subcategories": "translocase",
"Uniport_ID": "Q15388",
"Uniprot_name": "TOM20_HUMAN",
"EC_numbers": "",
"gene_symbol": "TOMM20",
"gene_synonyms": "KIAA0016, MAS20, MOM19, TOM20",
"gene_synonyms_links": "",
"gene_name": "Translocase of outer mitochondrial membrane 20",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000173726",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion outer membrane; Single-pass membrane protein",
"reaction": "",
"targ_desciption": "Central component of the receptor complex responsible for therecognition and translocation of cytosolically synthesizedmitochondrial preproteins. Together with TOM22 functions as the transitpeptide receptor at the surface of the mitochondrion outer membrane andfacilitates the movement of preproteins into the TOM40 translocationpore (By similarity). Required for the translocation across themitochondrial outer membrane of cytochrome P450 monooxygenases.{ECO:0000250, ECO:0000250|UniProtKB:Q62760}.",
"references": []
},
{
"targ_id": "T205",
"parent_targ_id": "T",
"full_name": "mCU (mitochondrial calcium uniporter)",
"abbrev": "MCU",
"protein_names": "Calcium uniporter protein, mitochondrial, HsMCU (Coiled-coil domain-containing protein 109A) ",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel",
"Uniport_ID": "Q8NE86",
"Uniprot_name": "MCU_HUMAN",
"EC_numbers": "",
"gene_symbol": "MCU",
"gene_synonyms": "C10orf42, CCDC109A, FLJ46135",
"gene_synonyms_links": "",
"gene_name": "Mitochondrial calcium uniporter",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000156026",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mitochondrial inner membrane calcium uniporter that mediatescalcium uptake into mitochondria (PubMed:21685888, PubMed:21685886,PubMed:23101630, PubMed:22904319, PubMed:23178883, PubMed:22829870,PubMed:22822213, PubMed:24332854, PubMed:23755363, PubMed:26341627).Constitutes the pore-forming and calcium-conducting subunit of theuniporter complex (uniplex) (PubMed:23755363). Activity is regulated byMICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated byMICU1 and MICU2. at higher Ca(2+) levels MICU1 increases MCU activity(PubMed:24560927, PubMed:26903221). Mitochondrial calcium homeostasisplays key roles in cellular physiology and regulates cellbioenergetics, cytoplasmic calcium signals and activation of cell deathpathways. Involved in buffering the amplitude of systolic calcium risesin cardiomyocytes (PubMed:22822213). While dispensable for baselinehomeostatic cardiac function, acts as a key regulator of short-termmitochondrial calcium loading underlying a 'fight-or-flight' responseduring acute stress: acts by mediating a rapid increase ofmitochondrial calcium in pacemaker cells (PubMed:25603276).participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Regulates glucose-dependent insulinsecretion in pancreatic beta-cells by regulating mitochondrial calciumuptake (PubMed:22904319, PubMed:22829870). Mitochondrial calcium uptakein skeletal muscle cells is involved in muscle size in adults (Bysimilarity). Regulates synaptic vesicle endocytosis kinetics in centralnerve terminal (By similarity). Involved in antigen processing andpresentation (By similarity). {ECO:0000250|UniProtKB:Q3UMR5,ECO:0000269|PubMed:21685886, ECO:0000269|PubMed:21685888,ECO:0000269|PubMed:22822213, ECO:0000269|PubMed:22829870,ECO:0000269|PubMed:22904319, ECO:0000269|PubMed:23101630,ECO:0000269|PubMed:23178883, ECO:0000269|PubMed:23755363,ECO:0000269|PubMed:24332854, ECO:0000269|PubMed:24560927,ECO:0000269|PubMed:25603276, ECO:0000269|PubMed:26341627,ECO:0000269|PubMed:26903221}.",
"references": [
"RC03559",
"RC03560",
"RC03561",
"RC03562",
"RC03563",
"RC03565",
"RC03569",
"RC03951"
]
},
{
"targ_id": "T206",
"parent_targ_id": "T",
"full_name": "mitochondrial Na/Ca2+ exchanger",
"abbrev": "NCLX",
"protein_names": "Mitochondrial sodium/calcium exchanger protein (Na(+)/K(+)/Ca(2+)-exchange protein 6) (Sodium/calcium exchanger protein, mitochondrial) (Sodium/potassium/calcium exchanger 6) (Solute carrier family 24 member 6) (Solute carrier family 8 member B1)",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel",
"Uniport_ID": "Q6J4K2",
"Uniprot_name": "NCLX_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC8B1",
"gene_synonyms": "FLJ22233, NCKX6, NCLX, SLC24A6",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 8 member B1",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000089060",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mitochondrial sodium/calcium antiporter that mediates sodium-dependent calcium efflux from mitochondrion, by mediating the exchangeof 3 sodium ions per 1 calcium ion (PubMed:20018762, PubMed:22829870,PubMed:23056385, PubMed:24898248, PubMed:28219928). Plays a centralrole in mitochondrial calcium homeostasis by mediating mitochondrialcalcium extrusion: calcium efflux is essential for mitochondrialfunction and cell survival, notably in cardiomyocytes (By similarity).Regulates rates of glucose-dependent insulin secretion in pancreaticbeta-cells during the first phase of insulin secretion: acts bymediating efflux of calcium from mitochondrion, thereby affectingcytoplasmic calcium responses (PubMed:23056385). Required for store-operated Ca(2+) entry (SOCE) and Ca(2+) release-activated Ca(2+) (CRAC)channel regulation: sodium transport by SLC8B1 leads to promotecalcium-shuttling that modulates mitochondrial redox status, therebyregulating SOCE activity (PubMed:28219928). Involved in B-lymphocytechemotaxis (By similarity). Able to transport Ca(2+) in exchange ofeither Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange(PubMed:15060069). In contrast to other members of the family itsfunction is independent of K(+) (PubMed:15060069).{ECO:0000250|UniProtKB:Q925Q3, ECO:0000269|PubMed:15060069,ECO:0000269|PubMed:20018762, ECO:0000269|PubMed:22829870,ECO:0000269|PubMed:23056385, ECO:0000269|PubMed:24898248,ECO:0000269|PubMed:28219928}.",
"references": [
"RC03564",
"RC03568"
]
},
{
"targ_id": "T207",
"parent_targ_id": "T",
"full_name": "mitochondrial Na/H+ exchanger",
"abbrev": "NHE",
"protein_names": "Sodium/hydrogen exchanger 9B2 (Na(+)/H(+) exchanger NHA2) (Na(+)/H(+) exchanger-like domain-containing protein 2) (NHE domain-containing protein 2) (Sodium/hydrogen exchanger-like domain-containing protein 2) (Solute carrier family 9 subfamily B member 2)",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel",
"Uniport_ID": "Q86UD5",
"Uniprot_name": "SL9B2_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC9B2",
"gene_synonyms": "FLJ23984, NHA2, NHEDC2",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 9 member B2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000164038",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein; Mitochondrion membrane; Multi-pass membrane protein; Endosome membrane; Multi-pass membrane protein; Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein; Cellprojection, cilium, flagellum membrane; Multi-pass membrane protein; Basolateral cell membrane; Multi-pass membrane protein; Apical cell membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Na(+)/H(+) antiporter that extrudes Na(+) or Li(+) inexchange for external protons across the membrane (PubMed:18000046,PubMed:28154142, PubMed:22948142, PubMed:18508966). Contributes to theregulation of intracellular pH, sodium homeostasis, and cell volume.Plays an important role for insulin secretion and clathrin-mediatedendocytosis in beta-cells (By similarity). Involved in sperm motilityand fertility (By similarity). It is controversial whether SLC9B2 playsa role in osteoclast differentiation or not (By similarity).{ECO:0000250|UniProtKB:Q5BKR2, ECO:0000269|PubMed:18000046,ECO:0000269|PubMed:18508966, ECO:0000269|PubMed:22948142,ECO:0000269|PubMed:28154142}.",
"references": []
},
{
"targ_id": "T208",
"parent_targ_id": "T",
"full_name": "mitochondrial KATP chanel (mtKATP)",
"abbrev": "mKATP",
"protein_names": "Mitochondrial potassium channel ATP-binding subunit (ATP-binding cassette sub-family B member 8, mitochondrial) (ABCB8) (Mitochondrial ATP-binding cassette 1) (M-ABC1) (Mitochondrial sulfonylurea-receptor) (MITOSUR)",
"related_func_ids": "F02110304",
"category": "protein",
"subcategories": "ion channel",
"Uniport_ID": "Q9NUT2",
"Uniprot_name": "MITOS_HUMAN",
"EC_numbers": "",
"gene_symbol": "ABCB8",
"gene_synonyms": "EST328128, M-ABC1, MABC1",
"gene_synonyms_links": "",
"gene_name": "ATP binding cassette subfamily B member 8",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000197150",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "ATP-binding subunit of the mitochondrial potassium channellocated in the mitochondrial inner membrane (PubMed:31435016). Togetherwith CCDC51/MITOK, forms a protein complex localized in themitochondria that mediates ATP-dependent potassium currents across theinner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). Plays arole in mitochondrial iron transport (PubMed:30623799). Required formaintenance of normal cardiac function, possibly by influencingmitochondrial iron export and regulating the maturation of cytosoliciron sulfur cluster-containing enzymes (By similarity).{ECO:0000250|UniProtKB:Q9CXJ4, ECO:0000269|PubMed:30623799,ECO:0000269|PubMed:31435016}.",
"references": [
"RC03471",
"RC03472",
"RC03473",
"RC03474",
"RC03476"
]
},
{
"targ_id": "T209",
"parent_targ_id": "T",
"full_name": "K+/H+ exchanger (KHE)",
"abbrev": "KHE",
"protein_names": "",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": []
},
{
"targ_id": "T210",
"parent_targ_id": "T",
"full_name": "Potassium voltage-gated channel subfamily A member 3",
"abbrev": "Voltage-gated potassium channel subunit Kv1.3",
"protein_names": "Potassium voltage-gated channel subfamily A member 3 (HGK5) (HLK3) (HPCN3) (Voltage-gated K(+) channel HuKIII) (Voltage-gated potassium channel subunit Kv1.3)",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel",
"Uniport_ID": "P22001",
"Uniprot_name": "KCNA3_HUMAN",
"EC_numbers": "",
"gene_symbol": "KCNA3 HGK5",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Mediates the voltage-dependent potassium ion permeability ofexcitable membranes. Assuming opened or closed conformations inresponse to the voltage difference across the membrane, the proteinforms a potassium-selective channel through which potassium ions maypass in accordance with their electrochemical gradient.",
"references": []
},
{
"targ_id": "T211",
"parent_targ_id": "T",
"full_name": "Potassium voltage-gated channel subfamily A member 5",
"abbrev": "Voltage-gated potassium channel subunit Kv1.5",
"protein_names": "Potassium voltage-gated channel subfamily A member 5 (HPCN1) (Voltage-gated potassium channel HK2) (Voltage-gated potassium channel subunit Kv1.5)",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel",
"Uniport_ID": "P22460",
"Uniprot_name": "KCNA5_HUMAN",
"EC_numbers": "",
"gene_symbol": "KCNA5",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Voltage-gated potassium channel that mediates transmembranepotassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance withtheir electrochemical gradient. The channel alternates between openedand closed conformations in response to the voltage difference acrossthe membrane. Can form functional homotetrameric channels andheterotetrameric channels that contain variable proportions of KCNA1,KCNA2, KCNA4, KCNA5, and possibly other family members as well. channelproperties depend on the type of alpha subunits that are part of thechannel (PubMed:12130714). Channel properties are modulated bycytoplasmic beta subunits that regulate the subcellular location of thealpha subunits and promote rapid inactivation (PubMed:12130714).Homotetrameric channels display rapid activation and slow inactivation(PubMed:8505626, PubMed:12130714). May play a role in regulating thesecretion of insulin in normal pancreatic islets. Isoform 2 exhibits avoltage-dependent recovery from inactivation and an excessivecumulative inactivation (PubMed:11524461).{ECO:0000269|PubMed:11524461, ECO:0000269|PubMed:12130714,ECO:0000269|PubMed:8505626}.",
"references": [
"RC00868"
]
},
{
"targ_id": "T212",
"parent_targ_id": "T",
"full_name": "hERG",
"abbrev": "",
"protein_names": "",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": [
"RC00869"
]
},
{
"targ_id": "T212001",
"parent_targ_id": "T212",
"full_name": "Potassium voltage-gated channel subfamily H member 2",
"abbrev": "hERG1",
"protein_names": "Potassium voltage-gated channel subfamily H member 2 (Eag homolog) (Ether-a-go-go-related gene potassium channel 1) (ERG-1) (Eag-related protein 1) (Ether-a-go-go-related protein 1) (H-ERG) (hERG-1) (hERG1) (Voltage-gated potassium channel subunit Kv11.1)",
"related_func_ids": "F021103",
"category": "protein subunit",
"subcategories": "ion channel subunit",
"Uniport_ID": "Q12809",
"Uniprot_name": "KCNH2_HUMAN",
"EC_numbers": "",
"gene_symbol": "KCNH2 ERG ERG1 HERG",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cell membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Pore-forming (alpha) subunit of voltage-gated inwardlyrectifying potassium channel. Channel properties are modulated by cAMPand subunit assembly. Mediates the rapidly activating component of thedelayed rectifying potassium current in heart (IKr) (PubMed:18559421,PubMed:26363003, PubMed:27916661). {ECO:0000269|PubMed:18559421,ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27916661}.; [Isoform A-USO]: Has no channel activity by itself, butmodulates channel characteristics by forming heterotetramers with otherisoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421}.; [Isoform B-USO]: Has no channel activity by itself, butmodulates channel characteristics by forming heterotetramers with otherisoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421}.",
"references": []
},
{
"targ_id": "T212002",
"parent_targ_id": "T212",
"full_name": "Potassium voltage-gated channel subfamily H member 6",
"abbrev": "hERG2",
"protein_names": "Potassium voltage-gated channel subfamily H member 6 (Ether-a-go-go-related gene potassium channel 2) (ERG-2) (Eag-related protein 2) (Ether-a-go-go-related protein 2) (hERG-2) (hERG2) (Voltage-gated potassium channel subunit Kv11.2)",
"related_func_ids": "F021103",
"category": "protein subunit",
"subcategories": "ion channel subunit",
"Uniport_ID": "Q9H252",
"Uniprot_name": "KCNH6_HUMAN",
"EC_numbers": "",
"gene_symbol": "KCNH6 ERG2",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Pore-forming (alpha) subunit of voltage-gated potassiumchannel. Elicits a slowly activating, rectifying current (Bysimilarity). Channel properties may be modulated by cAMP and subunitassembly. {ECO:0000250}.",
"references": []
},
{
"targ_id": "T212003",
"parent_targ_id": "T212",
"full_name": "Potassium voltage-gated channel subfamily H member 7",
"abbrev": "hERG3",
"protein_names": "Potassium voltage-gated channel subfamily H member 7 (Ether-a-go-go-related gene potassium channel 3) (ERG-3) (Eag-related protein 3) (Ether-a-go-go-related protein 3) (hERG-3) (Voltage-gated potassium channel subunit Kv11.3)",
"related_func_ids": "F021103",
"category": "protein subunit",
"subcategories": "ion channel subunit",
"Uniport_ID": "Q9NS40",
"Uniprot_name": "KCNH7_HUMAN",
"EC_numbers": "",
"gene_symbol": "KCNH7 ERG3",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Pore-forming (alpha) subunit of voltage-gated potassiumchannel. Channel properties may be modulated by cAMP and subunitassembly.",
"references": []
},
{
"targ_id": "T213",
"parent_targ_id": "T",
"full_name": "potassium",
"abbrev": "",
"protein_names": "",
"related_func_ids": "F021103",
"category": "molecule",
"subcategories": "ion",
"Uniport_ID": "",
"Uniprot_name": "",
"EC_numbers": "",
"gene_symbol": "",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "",
"reaction": "",
"targ_desciption": "",
"references": [
"RC00893",
"RC00896",
"RC00887",
"RC00890"
]
},
{
"targ_id": "T214",
"parent_targ_id": "T",
"full_name": "Phosphate carrier protein, mitochondrial",
"abbrev": "PTP",
"protein_names": "Phosphate carrier protein, mitochondrial (Phosphate transport protein) (PTP) (Solute carrier family 25 member 3)",
"related_func_ids": "F02110308",
"category": "protein",
"subcategories": "transporter",
"Uniport_ID": "Q00325",
"Uniprot_name": "MPCP_HUMAN",
"EC_numbers": "",
"gene_symbol": "SLC25A3",
"gene_synonyms": "PHC",
"gene_synonyms_links": "",
"gene_name": "Solute carrier family 25 member 3",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000075415",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion inner membrane; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Transport of phosphate groups from the cytosol to themitochondrial matrix. Phosphate is cotransported with H(+). May play arole regulation of the mitochondrial permeability transition pore(mPTP).",
"references": [
"RC01241",
"RC01243"
]
},
{
"targ_id": "T215",
"parent_targ_id": "T",
"full_name": "Chloride intracellular channel protein 4",
"abbrev": "Intracellular chloride ion channel protein p64H1",
"protein_names": "Chloride intracellular channel protein 4 (Intracellular chloride ion channel protein p64H1)",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "Chloride channel, Ion channel, Voltage-gated channel",
"Uniport_ID": "Q9Y696",
"Uniprot_name": "CLIC4_HUMAN",
"EC_numbers": "",
"gene_symbol": "CLIC4",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "",
"omim_id": "",
"genecard_link": "",
"locs": "Cytoplasm, cytoskeleton, microtubule organizingcenter, centrosome; Cytoplasmic vesicle membrane; Single-pass membrane protein; Nucleus matrix; Cell membrane; Single-pass membrane protein; Mitochondrion; Cell junction",
"reaction": "",
"targ_desciption": "Can insert into membranes and form poorly selective ionchannels that may also transport chloride ions. Channel activitydepends on the pH. Membrane insertion seems to be redox-regulated andmay occur only under oxydizing conditions. Promotes cell-surfaceexpression of HRH3. Has alternate cellular functions like a potentialrole in angiogenesis or in maintaining apical-basolateral membranepolarity during mitosis and cytokinesis. Could also promote endothelialcell proliferation and regulate endothelial morphogenesis(tubulogenesis). {ECO:0000269|PubMed:12163372,ECO:0000269|PubMed:14569596, ECO:0000269|PubMed:16176272,ECO:0000269|PubMed:16239224, ECO:0000269|PubMed:18302930,ECO:0000269|PubMed:19247789}.",
"references": []
},
{
"targ_id": "T216",
"parent_targ_id": "T",
"full_name": "Voltage-dependent anion-selective channel protein 1",
"abbrev": "VDAC-1",
"protein_names": "Voltage-dependent anion-selective channel protein 1 (VDAC-1) (hVDAC1) (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM)",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel, Porin",
"Uniport_ID": "P21796",
"Uniprot_name": "VDAC1_HUMAN",
"EC_numbers": "",
"gene_symbol": "VDAC1",
"gene_synonyms": "MGC111064, PORIN",
"gene_synonyms_links": "",
"gene_name": "Voltage dependent anion channel 1",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000213585",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion outer membrane; Multi-pass membrane protein; Cell membrane; Multi-pass membrane protein; Membrane raft; Multi-pass membrane protein",
"reaction": "",
"targ_desciption": "Forms a channel through the mitochondrial outer membrane andalso the plasma membrane. The channel at the outer mitochondrialmembrane allows diffusion of small hydrophilic molecules. in the plasmamembrane it is involved in cell volume regulation and apoptosis. Itadopts an open conformation at low or zero membrane potential and aclosed conformation at potentials above 30-40 mV. The open state has aweak anion selectivity whereas the closed state is cation-selective(PubMed:11845315, PubMed:18755977, PubMed:20230784, PubMed:8420959).May participate in the formation of the permeability transition porecomplex (PTPC) responsible for the release of mitochondrial productsthat triggers apoptosis (PubMed:15033708, PubMed:25296756).{ECO:0000269|PubMed:11845315, ECO:0000269|PubMed:15033708,ECO:0000269|PubMed:18755977, ECO:0000269|PubMed:20230784,ECO:0000269|PubMed:25296756, ECO:0000269|PubMed:8420959}.",
"references": []
},
{
"targ_id": "T217",
"parent_targ_id": "T",
"full_name": "Voltage-dependent anion-selective channel protein 2",
"abbrev": "VDAC-2",
"protein_names": "Voltage-dependent anion-selective channel protein 2 (VDAC-2) (hVDAC2) (Outer mitochondrial membrane protein porin 2)",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel, Porin",
"Uniport_ID": "P45880",
"Uniprot_name": "VDAC2_HUMAN",
"EC_numbers": "",
"gene_symbol": "VDAC2",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Voltage dependent anion channel 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000165637",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion outer membrane",
"reaction": "",
"targ_desciption": "Forms a channel through the mitochondrial outer membrane thatallows diffusion of small hydrophilic molecules. The channel adopts anopen conformation at low or zero membrane potential and a closedconformation at potentials above 30-40 mV. The open state has a weakanion selectivity whereas the closed state is cation-selective.",
"references": [
"RC03665"
]
},
{
"targ_id": "T218",
"parent_targ_id": "T",
"full_name": "Voltage-dependent anion-selective channel protein 3",
"abbrev": "VDAC-3",
"protein_names": "Voltage-dependent anion-selective channel protein 3 (VDAC-3) (hVDAC3) (Outer mitochondrial membrane protein porin 3)",
"related_func_ids": "F021103",
"category": "protein",
"subcategories": "ion channel, Porin",
"Uniport_ID": "Q9Y277",
"Uniprot_name": "VDAC3_HUMAN",
"EC_numbers": "",
"gene_symbol": "VDAC3",
"gene_synonyms": "HD-VDAC3",
"gene_synonyms_links": "",
"gene_name": "Voltage dependent anion channel 3",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000078668",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion outer membrane",
"reaction": "",
"targ_desciption": "Forms a channel through the mitochondrial outer membrane thatallows diffusion of small hydrophilic molecules. {ECO:0000250}.",
"references": []
},
{
"targ_id": "T219",
"parent_targ_id": "T",
"full_name": "Hexokinase-2",
"abbrev": "HK II",
"protein_names": "Hexokinase-2 (EC 2.7.1.1) (Hexokinase type II) (HK II) (Hexokinase-B) (Muscle form hexokinase)",
"related_func_ids": "F021103",
"category": "enzyme",
"subcategories": "Allosteric enzyme, Kinase, Transferase",
"Uniport_ID": "P52789",
"Uniprot_name": "HXK2_HUMAN",
"EC_numbers": "2.7.1.1",
"gene_symbol": "HK2",
"gene_synonyms": "",
"gene_synonyms_links": "",
"gene_name": "Hexokinase 2",
"hgnc_id": "",
"entrez_id": "",
"ensembl_id": "ENSG00000159399",
"omim_id": "",
"genecard_link": "",
"locs": "Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasm, cytosol",
"reaction": "ATP + D-hexose = ADP + D-hexose 6-phosphate + H(+); ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+); ATP + D-glucose = ADP + D-glucose 6-phosphate + H(+)",
"targ_desciption": "Catalyzes the phosphorylation of hexose, such as D-glucoseand D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D-fructose 6-phosphate, respectively) (PubMed:23185017, PubMed:26985301,PubMed:29298880). Mediates the initial step of glycolysis by catalyzingphosphorylation of D-glucose to D-glucose 6-phosphate(PubMed:29298880). Plays a key role in maintaining the integrity of theouter mitochondrial membrane by preventing the release of apoptogenicmolecules from the intermembrane space and subsequent apoptosis(PubMed:18350175). {ECO:0000269|PubMed:18350175,ECO:0000269|PubMed:23185017, ECO:0000269|PubMed:26985301,ECO:0000269|PubMed:29298880}.",
"references": []
}
]
}
