{ "uniprot_canonical_ac": "A2ATU0-1", "ptm_annotation": [], "sequence": { "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", "length": 921, "sequence": "MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFTTTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFTTEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGAHQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQARWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKNGSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKHVRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDILSKTFTQ" }, "uniprot_id": "DHTK1_MOUSE", "enzyme_annotation": [ { "ec": "1.2.4.2", "activity": "" }, { "ec": "1.2.4.2", "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)." } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12520002", "type": [ "PubMed" ], "id": "12520002" } ], "title": "BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" } ], "authors": "Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC, Ferrin TE", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23806337", "type": [ "PubMed" ], "id": "23806337" } ], "title": "SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways.", "journal": "Mol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "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" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24029230", "type": [ "PubMed" ], "id": "24029230" } ], "title": "Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.", "journal": "Cancer cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" } ], "authors": "Nagamachi A, Matsui H, Asou H, Ozaki Y, Aki D, Kanai A, Takubo K, Suda T, Nakamura T, Wolff L, Honda H, Inaba T", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25215496", "type": [ "PubMed" ], "id": "25215496" } ], "title": "Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.", "journal": "Cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" } ], "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", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28545977", "type": [ "PubMed" ], "id": "28545977" } ], "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", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" } ], "authors": "Biagosch C, Ediga RD, Hensler SV, Faerberboeck M, Kuehn R, Wurst W, Meitinger T, Kolker S, Sauer S, Prokisch H", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29661920", "type": [ "PubMed" ], "id": "29661920" } ], "title": "DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.", "journal": "Molecular and cellular biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" } ], "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", "date": "2018" } ], "uniprot_ac": "A2ATU0", "site_annotation": [ { "end_pos": 319, "annotation": "n_glycosylation_sequon", "start_pos": 317 }, { "end_pos": 568, "annotation": "n_glycosylation_sequon", "start_pos": 566 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0#A2ATU0-1", "isoform_ac": "A2ATU0-1", "locus": { "end_pos": 5898711, "strand": "+", "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": { "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", "length": 921, "sequence": "MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFTTTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFTTEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGAHQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQARWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKNGSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKHVRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDILSKTFTQ" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+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.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" } ] }, { "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" } ] } ], "orthologs": [ { "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" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Dhtkd1", "tax_id": 10116 }, { "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" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "DHTKD1", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "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", "pmid": "", "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", "pmid": "", "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", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "mitochondrion", "id": "GO:0005739" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "pmid": "24029230", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "pmid": "", "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", "pmid": "", "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", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "name": "glycolytic process", "id": "GO:0006096" } ], "total": 4, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2ATU0", "type": "synonym", "resource": "RefSeq", "name": "C330018I04Rik" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2ATU0", "type": "synonym", "resource": "RefSeq", "name": "Dhtkd1" }, { "url": "https://www.uniprot.org/uniprot/A2ATU0", "type": "recommended", "resource": "UniProtKB", "name": "Dhtkd1" }, { "url": "https://www.uniprot.org/uniprot/A2ATU0", "type": "synonym", "resource": "UniProtKB", "name": "Kiaa1630" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000025815", "id": "ENSMUSG00000025815", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/209692", "id": "209692", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2ATU0*", "id": "A2ATU0", "database": "IntAct" }, { "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/IPR029061", "id": "IPR029061", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR031717", "id": "IPR031717", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR042179", "id": "IPR042179", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:209692", "id": "mmu:209692", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:2445096", "id": "2445096", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/GMAIDNP/", "id": "GMAIDNP", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=134699at2759", "id": "134699at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23152", "id": "PTHR23152", "database": "PANTHER" }, { "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://purl.obolibrary.org/obo/PR_PR_A2ATU0", "id": "PR_A2ATU0", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-389661", "id": "R-MMU-389661", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", "id": "NP_001074600.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2ATU0", "id": "A2ATU0", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "Charcot-Marie-Tooth neuropathy, type 2Q", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "Charcot-Marie-Tooth disease, axonal, type 2Q", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "Charcot-Marie-Tooth disease caused by mutation in DHTKD1", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "DHTKD1 Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "Charcot-Marie-Tooth disease, axonal, type 2Q; CMT2Q", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "CMT2Q", "description": "" }, { "id": "MONDO:0014012", "url": "https://monarchinitiative.org/disease/MONDO:0014012", "resource": "MONDO", "name": "Charcot-Marie-Tooth neuropathy type 2Q", "description": "" }, { "id": "DOID:0110170", "url": "http://disease-ontology.org/term/DOID:0110170", "resource": "Disease Ontology", "name": "CMT2Q", "description": "" }, { "id": "DOID:0110170", "url": "http://disease-ontology.org/term/DOID:0110170", "resource": "Disease Ontology", "name": "Charcot-Marie-Tooth neuropathy type 2Q", "description": "" }, { "id": "DOID:0110170", "url": "http://disease-ontology.org/term/DOID:0110170", "resource": "Disease Ontology", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q", "description": "" }, { "id": "DOID:0110170", "url": "http://disease-ontology.org/term/DOID:0110170", "resource": "Disease Ontology", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q", "description": "" } ], "recommended_name": { "id": "DOID:0110170", "url": "http://disease-ontology.org/term/DOID:0110170", "resource": "Disease Ontology", "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." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0110170#disease-associations", "id": "0110170", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0008774", "url": "https://monarchinitiative.org/disease/MONDO:0008774", "resource": "MONDO", "name": "AMOXAD", "description": "" }, { "id": "MONDO:0008774", "url": "https://monarchinitiative.org/disease/MONDO:0008774", "resource": "MONDO", "name": "Alpha-aminoadipic aciduria", "description": "" }, { "id": "MONDO:0008774", "url": "https://monarchinitiative.org/disease/MONDO:0008774", "resource": "MONDO", "name": "2-aminoadipic 2-oxoadipic aciduria; AMOXAD", "description": "" }, { "id": "DOID:0111453", "url": "http://disease-ontology.org/term/DOID:0111453", "resource": "Disease Ontology", "name": "AMOXAD", "description": "" }, { "id": "DOID:0111453", "url": "http://disease-ontology.org/term/DOID:0111453", "resource": "Disease Ontology", "name": "alpha-aminoadipic aciduria", "description": "" } ], "recommended_name": { "id": "DOID:0111453", "url": "http://disease-ontology.org/term/DOID:0111453", "resource": "Disease Ontology", "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." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111453#disease-associations", "id": "0111453", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:9252", "url": "http://disease-ontology.org/term/DOID:9252", "resource": "Disease Ontology", "name": "inborn errors of amino acid metabolism", "description": "" } ], "recommended_name": { "id": "DOID:9252", "url": "http://disease-ontology.org/term/DOID:9252", "resource": "Disease Ontology", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/9252#disease-associations", "id": "9252", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 102793.0, "chemical_mass": 102793.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0", "name": "Dhtkd1", "locus": { "end_pos": 5896115, "strand": "-", "start_pos": 5942792, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000025815", "id": "ENSMUSG00000025815", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "1.2.4.2" }, { "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Dehydrogenase E1 and transketolase domain-containing protein 1" }, { "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2ATU0", "type": "synonym", "resource": "RefSeq", "name": "dehydrogenase E1 and transketolase domain-containing protein 1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2ATU0", "type": "synonym", "resource": "RefSeq", "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial" } ] }