{ "uniprot_canonical_ac": "A2ATU0-1", "uniprot_ac": "A2ATU0", "uniprot_id": "DHTK1_MOUSE", "mass": { "chemical_mass": 102793.0, "monoisotopic_mass": 102793.0 }, "refseq": { "ac": "NP_001074600", "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" }, "gene_names": [ { "name": "Dhtkd1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0" }, { "name": "C330018I04Rik", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600", "id": "NP_001074600" }, { "name": "Dhtkd1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600", "id": "NP_001074600" }, { "name": "Kiaa1630", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0" } ], "protein_names": [ { "name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", "id": "A2ATU0" }, { "name": "1.2.4.2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", "id": "A2ATU0" }, { "name": "Dehydrogenase E1 and transketolase domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", "id": "A2ATU0" }, { "name": "dehydrogenase E1 and transketolase domain-containing protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600", "id": "NP_001074600" }, { "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600", "id": "NP_001074600" } ], "function": [ { "annotation": "CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" }, { "database": "PubMed", "id": "32169121", "url": "https://glygen.org/publication/PubMed/32169121" } ] }, { "annotation": "Dhtkd1(-/-) mice mimic the major aspects of CMT2 phenotypes, characterized by progressive weakness and atrophy in the distal parts of limbs with motor and sensory dysfunctions, which are accompanied with decreased nerve conduction velocity. Moreover, DHTKD1 deficiency causes severe metabolic abnormalities and dramatically increased levels of 2-ketoadipic acid (2-KAA) and 2-aminoadipic acid (2-AAA) in urine. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" }, { "database": "PubMed", "id": "29661920", "url": "https://glygen.org/publication/PubMed/29661920" } ] }, { "annotation": "Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" }, { "database": "PubMed", "id": "28545977", "url": "https://glygen.org/publication/PubMed/28545977" } ] }, { "annotation": "In the BXD mouse population, natural variants in Dhtkd1 lead to changes in metabolite levels of 2-aminoadipate and in turn are associated with diabetes status, independently of chow or high fat diet feeding.", "evidence": [ { "database": "RefSeq", "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" }, { "database": "PubMed", "id": "25215496", "url": "https://glygen.org/publication/PubMed/25215496" } ] }, { "annotation": "The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0#function" } ] } ], "disease": [ { "disease_id": "DOID:0110170", "recommended_name": { "id": "DOID:0110170", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110170", "name": "Charcot-Marie-Tooth disease axonal type 2Q", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14." }, "synonyms": [ { "id": "DOID:0110170", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110170", "name": "CMT2Q", "description": "" }, { "id": "DOID:0110170", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110170", "name": "Charcot-Marie-Tooth neuropathy type 2Q", "description": "" }, { "id": "DOID:0110170", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110170", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "DOID:0110170", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110170", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "Charcot-Marie-Tooth disease axonal type 2Q", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment." }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "Charcot-Marie-Tooth neuropathy, type 2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "Charcot-Marie-Tooth disease, axonal, type 2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "Charcot-Marie-Tooth disease caused by mutation in DHTKD1", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "DHTKD1 Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "Charcot-Marie-Tooth disease, axonal, type 2Q; CMT2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "CMT2Q", "description": "" }, { "id": "MONDO:0014012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "name": "Charcot-Marie-Tooth neuropathy type 2Q", "description": "" }, { "id": "MIM:615025", "resource": "MIM", "url": "https://www.omim.org/entry/615025", "name": "Charcot-Marie-Tooth disease 2Q", "description": "Charcot-Marie-Tooth disease 2Q" } ], "evidence": [ { "id": "0110170", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110170" } ] }, { "disease_id": "DOID:0111453", "recommended_name": { "id": "DOID:0111453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111453", "name": "2-aminoadipic 2-oxoadipic aciduria", "description": "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14." }, "synonyms": [ { "id": "DOID:0111453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111453", "name": "AMOXAD", "description": "" }, { "id": "DOID:0111453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111453", "name": "alpha-aminoadipic aciduria", "description": "" }, { "id": "MONDO:0008774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008774", "name": "2-aminoadipic 2-oxoadipic aciduria", "description": "" }, { "id": "MONDO:0008774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008774", "name": "AMOXAD", "description": "" }, { "id": "MONDO:0008774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008774", "name": "Alpha-aminoadipic aciduria", "description": "" }, { "id": "MONDO:0008774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008774", "name": "2-aminoadipic 2-oxoadipic aciduria", "description": "" }, { "id": "MONDO:0008774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008774", "name": "2-aminoadipic 2-oxoadipic aciduria; AMOXAD", "description": "" }, { "id": "MIM:204750", "resource": "MIM", "url": "https://www.omim.org/entry/204750", "name": "2-aminoadipic 2-oxoadipic aciduria", "description": "2-aminoadipic 2-oxoadipic aciduria" } ], "evidence": [ { "id": "0111453", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111453" } ] }, { "disease_id": "DOID:9252", "recommended_name": { "id": "DOID:9252", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids." }, "synonyms": [ { "id": "DOID:9252", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9252", "name": "inborn errors of amino acid metabolism", "description": "" } ], "evidence": [ { "id": "9252", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Dhtkd1", "url": "https://www.uniprot.org/uniprot/A2ATU0", "locus": { "chromosome": "2", "start_pos": 5942792, "end_pos": 5896115, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000025815", "url": "https://www.ensembl.org/id/ENSMUSG00000025815" } ] } } ], "crossref": [ { "id": "ENSMUSG00000025815", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000025815", "database": "Bgee" }, { "id": "209692", "url": "https://www.ncbi.nlm.nih.gov/gene/209692", "database": "GeneID" }, { "id": "IPR001017", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001017", "database": "InterPro" }, { "id": "IPR005475", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005475", "database": "InterPro" }, { "id": "IPR011603", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011603", "database": "InterPro" }, { "id": "IPR029061", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029061", "database": "InterPro" }, { "id": "IPR031717", "url": "https://www.ebi.ac.uk/interpro/entry/IPR031717", "database": "InterPro" }, { "id": "IPR042179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042179", "database": "InterPro" }, { "id": "mmu:209692", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:209692", "database": "KEGG Pathway" }, { "id": "2445096", "url": "http://www.informatics.jax.org/marker/MGI:2445096", "database": "MGI" }, { "id": "GMAIDNP", "url": "https://omabrowser.org/oma/group/GMAIDNP/", "database": "OMA" }, { "id": "134699at2759", "url": "http://www.orthodb.org/?query=134699at2759", "database": "OrthoDB" }, { "id": "PTHR23152", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23152", "database": "PANTHER" }, { "id": "PF00676", "url": "http://pfam.xfam.org/family/PF00676", "database": "Pfam" }, { "id": "PF02779", "url": "http://pfam.xfam.org/family/PF02779", "database": "Pfam" }, { "id": "PF16870", "url": "http://pfam.xfam.org/family/PF16870", "database": "Pfam" }, { "id": "PR_A2ATU0", "url": "http://purl.obolibrary.org/obo/PR_A2ATU0", "database": "PRO" }, { "id": "R-MMU-389661", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-389661", "database": "Reactome" }, { "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600", "database": "RefSeq" }, { "id": "12188", "url": "https://www.rhea-db.org/rhea/12188", "database": "Rhea" }, { "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0", "database": "UniProtKB" }, { "id": "A2ATU0-1", "url": "https://www.uniprot.org/uniprot/A2ATU0-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFTTTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFTTEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGAHQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQARWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKNGSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKHVRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDILSKTFTQ", "length": 921, "header": "sp|A2ATU0-1|DHTK1_MOUSE Isoform 1 of Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial OS=Mus musculus OX=10090 GN=Dhtkd1 PE=1 SV=1 CANONICAL=A2ATU0-1" }, "isoforms": [ { "isoform_ac": "A2ATU0-1", "url": "https://www.uniprot.org/uniprot/A2ATU0#A2ATU0-1", "sequence": { "sequence": "MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFTTTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFTTEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGAHQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQARWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKNGSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKHVRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDILSKTFTQ", "length": 921, "header": "sp|A2ATU0-1|DHTK1_MOUSE Isoform 1 of Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial OS=Mus musculus OX=10090 GN=Dhtkd1 PE=1 SV=1 CANONICAL=A2ATU0-1" }, "locus": { "chromosome": "2", "start_pos": 5947482, "end_pos": 5903522, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000095147", "url": "https://www.ensembl.org/id/ENSMUST00000095147" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000092769", "url": "https://www.ensembl.org/id/ENSMUSP00000092769" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways.", "journal": "Mol. Cell", "date": "2013", "authors": "Chen Y., Park J., Zhang Y., Zhao Y., Peng C., Tan M., Xie Z., Zwaans B.M., Lombard D.B., Dai L., Tishkoff D.X., Skinner M.E.", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "reference": [ { "type": "PubMed", "id": "23806337", "url": "https://glygen.org/publication/PubMed/23806337" } ] }, { "title": "Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.", "journal": "Cell", "date": "2014", "authors": "Wu Y, Williams EG, Dubuis S, Mottis A, Jovaisaite V, Houten SM, Argmann CA, Faridi P, Wolski W, Kutalik Z, Zamboni N, Auwerx J, Aebersold R", "evidence": [ { "database": "RefSeq", "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" } ], "reference": [ { "type": "PubMed", "id": "25215496", "url": "https://glygen.org/publication/PubMed/25215496" } ] }, { "title": "Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2017", "authors": "Biagosch C, Ediga RD, Hensler SV, Faerberboeck M, Kuehn R, Wurst W, Meitinger T, Kolker S, Sauer S, Prokisch H", "evidence": [ { "database": "RefSeq", "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" } ], "reference": [ { "type": "PubMed", "id": "28545977", "url": "https://glygen.org/publication/PubMed/28545977" } ] }, { "title": "DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.", "journal": "Molecular and cellular biology", "date": "2018", "authors": "Xu WY, Zhu H, Shen Y, Wan YH, Tu XD, Wu WT, Tang L, Zhang HX, Lu SY, Jin XL, Fei J, Wang ZG", "evidence": [ { "database": "RefSeq", "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" } ], "reference": [ { "type": "PubMed", "id": "29661920", "url": "https://glygen.org/publication/PubMed/29661920" } ] }, { "title": "CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model.", "journal": "Acta neuropathologica communications", "date": "2020", "authors": "Luan CJ, Guo W, Chen L, Wei XW, He Y, Chen Y, Dang SY, Prior R, Li X, Kuang Y, Wang ZG, Van Den Bosch L, Gu MM", "evidence": [ { "database": "RefSeq", "id": "NP_001074600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600" } ], "reference": [ { "type": "PubMed", "id": "32169121", "url": "https://glygen.org/publication/PubMed/32169121" } ] } ], "pathway": [ { "id": "mmu:209692", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:209692", "resource": "KEGG Pathway" }, { "id": "R-MMU-389661", "name": "Glyoxylate metabolism and glycine degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-389661", "resource": "Reactome", "description": "Glyoxylate metabolism and glycine degradation" } ], "orthologs": [ { "uniprot_canonical_ac": "Q4KLP0-1", "protein_name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", "gene_name": "Dhtkd1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASATVAAAGRALRRAVPLLRRSYQTERGVYGYRPRKAGSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVQTLQGPFTTTGLLNMGKEEASLEEVLAYLNHIYCGPISIETAQLQSQEEKDWFARRFEELKKETFTTEERKHLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVAAIGDVLSHLTSSVDLDFGAHRPLHVTMLPNPSHLEAINPVAVGKTRGRQQSQEDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIIDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKASYYAKLNGHLANVAHYSPPAPHLQARWQGLVQPAACVTTWDTGVPLELLRFVGVKSVEVPEELQLHSHLLKMYVQSRMEKVKNGTNLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQNTDDVYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPDHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMMRNFRKPLIVASPKMLLRYPVAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGAKKRDFAIIRLEELCPFPLDSLQQEMGKYKHVQDIIWSQEEPQNMGPWSFVYPRFEKQLACKLRLVSRPPLPAPAVGIGTVHQQQHEAILFKTFTS", "length": 920 }, "evidence": [ { "id": "10278", "url": "http://www.informatics.jax.org/homology/10278", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q96HY7-1", "protein_name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", "gene_name": "DHTKD1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLVTVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLVYLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFLATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSVHLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEIKSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVEVPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGTFSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMCDSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLPAAVSTLQEMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCPFPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAVGIGTVHLHQHEDILAKTFA", "length": 919 }, "evidence": [ { "id": "10278", "url": "http://www.informatics.jax.org/homology/10278", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "generation of precursor metabolites and energy", "id": "GO:0006091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "pmid": "" }, { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "pmid": "24029230" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "thiamine pyrophosphate binding", "id": "GO:0030976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030976", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "pmid": "" }, { "name": "oxoglutarate dehydrogenase (succinyl-transferring) activity", "id": "GO:0004591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004591", "evidence": [ { "database": "UniProtKB", "id": "A2ATU0", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 317, "end_pos": 319, "annotation": "n_glycosylation_sequon" }, { "start_pos": 566, "end_pos": 568, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12188", "name": "", "equation": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase]-(R)-N(6)-lipoyl-L-lysine + H(+) = [dihydrolipoyllysine-residue succinyltransferase]-(R)-N(6)-(S(8)-succinyldihydrolipoyl)-L-lysine + CO2", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q4KLP0-1", "Q5XI78-1", "D3ZQD3-1", "Q96HY7-1", "Q02218-1", "Q9ULD0-1", "A2ATU0-1", "Q60597-1", "E9Q7L0-1", "Q9VA02-1" ], "evidence": [ { "id": "12188", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12188" } ] }, { "id": "R-MMU-6792572", "name": "LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q60597-1", "Q9D2G2-1", "Q9D051-1", "P53395-1", "Q8BMF4-1", "O08749-1", "A2ATU0-1", "Q8VCM4-1", "P35486-1", "P50136-1", "Q6P3A8-1", "P35487-1" ], "evidence": [ { "id": "R-MMU-6792572", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6792572" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A2ATU0", "gene_name": "Dhtkd1", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "A2ATU0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "A2ATU0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2ATU0" } ] } ] }, { "uniprot_ac": "D3ZQD3", "gene_name": "Ogdhl", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "D3ZQD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZQD3" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "D3ZQD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZQD3" } ] } ] }, { "uniprot_ac": "E9Q7L0", "gene_name": "Ogdhl", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "E9Q7L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9Q7L0" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "E9Q7L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9Q7L0" } ] } ] }, { "uniprot_ac": "O08749", "gene_name": "Dld", "activity": [ { "ec_number": "1.8.1.4", "activity": "Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH.", "evidence": [ { "id": "O08749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08749" } ] }, { "ec_number": "1.8.1.4", "activity": "", "evidence": [ { "id": "O08749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08749" } ] } ] }, { "uniprot_ac": "P35486", "gene_name": "Pdha1", "activity": [ { "ec_number": "1.2.4.1", "activity": "Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "P35486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35486" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P35486", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35486" } ] } ] }, { "uniprot_ac": "P35487", "gene_name": "Pdha2", "activity": [ { "ec_number": "1.2.4.1", "activity": "Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "P35487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35487" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P35487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35487" } ] } ] }, { "uniprot_ac": "P50136", "gene_name": "Bckdha", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2).", "evidence": [ { "id": "P50136", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50136" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "P50136", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50136" } ] } ] }, { "uniprot_ac": "P53395", "gene_name": "Dbt", "activity": [ { "ec_number": "2.3.1.168", "activity": "2-methylpropanoyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2-methylpropanoyl)dihydrolipoyl)lysine.", "evidence": [ { "id": "P53395", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53395" } ] }, { "ec_number": "2.3.1.168", "activity": "", "evidence": [ { "id": "P53395", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53395" } ] } ] }, { "uniprot_ac": "Q02218", "gene_name": "OGDH", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] } ] }, { "uniprot_ac": "Q4KLP0", "gene_name": "Dhtkd1", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q4KLP0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4KLP0" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q4KLP0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4KLP0" } ] } ] }, { "uniprot_ac": "Q5XI78", "gene_name": "Ogdh", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q5XI78", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XI78" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q5XI78", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XI78" } ] } ] }, { "uniprot_ac": "Q60597", "gene_name": "Ogdh", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q60597", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q60597" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q60597", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q60597" } ] } ] }, { "uniprot_ac": "Q6P3A8", "gene_name": "Bckdhb", "activity": [ { "ec_number": "1.2.4.4", "activity": "3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q6P3A8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P3A8" } ] }, { "ec_number": "1.2.4.4", "activity": "", "evidence": [ { "id": "Q6P3A8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P3A8" } ] } ] }, { "uniprot_ac": "Q8BMF4", "gene_name": "Dlat", "activity": [ { "ec_number": "2.3.1.12", "activity": "Acetyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-acetyldihydrolipoyl)lysine.", "evidence": [ { "id": "Q8BMF4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BMF4" } ] }, { "ec_number": "2.3.1.12", "activity": "", "evidence": [ { "id": "Q8BMF4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BMF4" } ] } ] }, { "uniprot_ac": "Q8VCM4", "gene_name": "Lipt1", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q8VCM4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCM4" } ] } ] }, { "uniprot_ac": "Q96HY7", "gene_name": "DHTKD1", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q96HY7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96HY7" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q96HY7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96HY7" } ] } ] }, { "uniprot_ac": "Q9D051", "gene_name": "Pdhb", "activity": [ { "ec_number": "1.2.4.1", "activity": "Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q9D051", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D051" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "Q9D051", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D051" } ] } ] }, { "uniprot_ac": "Q9D2G2", "gene_name": "Dlst", "activity": [ { "ec_number": "2.3.1.61", "activity": "Succinyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-succinyldihydrolipoyl)lysine.", "evidence": [ { "id": "Q9D2G2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D2G2" } ] }, { "ec_number": "2.3.1.61", "activity": "", "evidence": [ { "id": "Q9D2G2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D2G2" } ] } ] }, { "uniprot_ac": "Q9ULD0", "gene_name": "OGDHL", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q9ULD0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ULD0" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q9ULD0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ULD0" } ] } ] }, { "uniprot_ac": "Q9VA02", "gene_name": "", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).", "evidence": [ { "id": "Q9VA02", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VA02" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q9VA02", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VA02" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ] }