{ "uniprot_canonical_ac": "A2ATU0-1", "sequence": { "length": 921, "sequence": "MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFTTTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFTTEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGAHQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQARWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKNGSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKHVRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDILSKTFTQ" }, "uniprot_id": "DHTK1_MOUSE", "enzyme_annotation": [ { "ec": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)." }, { "ec": "1.2.4.2", "activity": "" } ], "alternativenames": [ { "full": "Dehydrogenase E1 and transketolase domain-containing protein 1", "short": "" } ], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "recommendedname": { "full": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial" }, "publication": [ { "title": "SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23806337", "journal": "Mol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0/publications", "id": "A2ATU0", "database": "UniProtKB" } ], "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.", "date": "2013", "pmid": "23806337" } ], "glycosylation": [], "mutation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0#A2ATU0-1", "isoform_ac": "A2ATU0-1", "locus": { "end_pos": 5898711, "start_pos": 5942671, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000026924", "id": "ENSMUST00000026924", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000026924", "id": "ENSMUSP00000026924", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 921, "sequence": "MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFTTTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFTTEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGAHQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQARWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKNGSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKHVRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDILSKTFTQ" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:209692", "resource": "KEGG Pathway", "id": "mmu:209692", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-389661", "resource": "Reactome", "id": "R-MMU-389661", "name": "Glyoxylate metabolism and glycine degradation" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0#function", "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": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0#function", "id": "A2ATU0", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "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": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "annotation": "Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "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": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q96HY7-1", "protein_name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", "sequence": { "length": 919, "sequence": "MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLVTVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLVYLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFLATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSVHLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEIKSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVEVPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGTFSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMCDSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLPAAVSTLQEMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCPFPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAVGIGTVHLHQHEDILAKTFA" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2ATU0/", "id": "A2ATU0", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/10278", "id": "10278", "database": "MGI" } ], "organism": "Homo sapiens", "tax_id": 9606 }, { "uniprot_canonical_ac": "Q4KLP0-1", "protein_name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", "sequence": { "length": 920, "sequence": "MASATVAAAGRALRRAVPLLRRSYQTERGVYGYRPRKAGSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVQTLQGPFTTTGLLNMGKEEASLEEVLAYLNHIYCGPISIETAQLQSQEEKDWFARRFEELKKETFTTEERKHLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVAAIGDVLSHLTSSVDLDFGAHRPLHVTMLPNPSHLEAINPVAVGKTRGRQQSQEDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIIDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKASYYAKLNGHLANVAHYSPPAPHLQARWQGLVQPAACVTTWDTGVPLELLRFVGVKSVEVPEELQLHSHLLKMYVQSRMEKVKNGTNLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQNTDDVYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPDHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMMRNFRKPLIVASPKMLLRYPVAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGAKKRDFAIIRLEELCPFPLDSLQQEMGKYKHVQDIIWSQEEPQNMGPWSFVYPRFEKQLACKLRLVSRPPLPAPAVGIGTVHQQQHEAILFKTFTS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2ATU0/", "id": "A2ATU0", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/10278", "id": "10278", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "ac": "NP_001074600.1", "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030976", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "thiamine pyrophosphate binding", "id": "GO:0030976" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004591", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "oxoglutarate dehydrogenase (succinyl-transferring) activity", "id": "GO:0004591" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "mitochondrion", "id": "GO:0005739" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045252", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "oxoglutarate dehydrogenase complex", "id": "GO:0045252" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "generation of precursor metabolites and energy", "id": "GO:0006091" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "tricarboxylic acid cycle", "id": "GO:0006099" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "glycolytic process", "id": "GO:0006096" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244" } ], "total": 4, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 319, "annotation": "n_glycosylation_sequon", "start_pos": 317 }, { "end_pos": 568, "annotation": "n_glycosylation_sequon", "start_pos": 566 } ], "crossref": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?mmu:209692", "id": "mmu:209692", "database": "KEGG Pathway" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-389661", "id": "R-MMU-389661", "database": "Reactome" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000025815", "id": "ENSMUSG00000025815", "database": "Bgee" }, { "url": "http://www.informatics.jax.org/marker/MGI:2445096", "id": "2445096", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/FEYGMAI/", "id": "FEYGMAI", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001017", "id": "IPR001017", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR005475", "id": "IPR005475", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011603", "id": "IPR011603", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR031717", "id": "IPR031717", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029061", "id": "IPR029061", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR042179", "id": "IPR042179", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/209692", "id": "209692", "database": "GeneID" }, { "url": "http://pfam.xfam.org/family/PF00676", "id": "PF00676", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02779", "id": "PF02779", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF16870", "id": "PF16870", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23152", "id": "PTHR23152", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2ATU0", "id": "PR_A2ATU0", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2ATU0*", "id": "A2ATU0", "database": "IntAct" } ], "expression_disease": [], "uniprot_ac": "A2ATU0", "disease": [], "mass": { "monoisotopic_mass": 102793.0, "chemical_mass": 102793.0 }, "expression_tissue": [], "gene": [ { "url": "http://www.informatics.jax.org/marker/MGI:2445096", "name": "Dhtkd1", "locus": { "end_pos": 5896115, "start_pos": 5942792, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000025815", "id": "ENSMUSG00000025815", "database": "Ensembl Gene" } ] } } ] }