DHTKD1
entrez
55526
canonical
uniprot
Q96HY7
canonical
ensembl
ENSG00000181192
resolver
ensp
ENSP00000263035
resolver
enst
ENST00000263035
resolver
genesymbol
DHTKD1
resolver
genesymbol_syn
KIAA1630
resolver
hgnc
HGNC:23537
resolver
uniprot
Q68CU5
resolver
uniprot
Q9BUM8
resolver
uniprot
Q9HCE2
resolver
uniprot_entry
DHTK1_HUMAN
resolver
uniprot_sec
Q68CU5
resolver
uniprot_sec
Q9BUM8
resolver
uniprot_sec
Q9HCE2
resolver
amino_acid_sequence
MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLVTVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLVYLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFLATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSVHLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEIKSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVEVPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGTFSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMCDSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLPAAVSTLQEMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCPFPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAVGIGTVHLHQHEDILAKTFA
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, axonal, type 2Q (CMT2Q) [MIM:615025]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269|PubMed:23141294}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) [MIM:204750]: An autosomal recessive metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. {ECO:0000269|PubMed:23141293, ECO:0000269|PubMed:25860818, ECO:0000269|PubMed:26141459, ECO:0000269|PubMed:32303640, ECO:0000269|PubMed:32695416}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.4.-
uniprot
proteins
function
FUNCTION: 2-oxoadipate dehydrogenase (E1a) component of the 2-oxoadipate dehydrogenase complex (OADHC) (PubMed:29191460, PubMed:29752936, PubMed:32303640, PubMed:32633484, PubMed:32695416). Participates in the first step, rate limiting for the overall conversion of 2-oxoadipate (alpha-ketoadipate) to glutaryl-CoA and CO(2) catalyzed by the whole OADHC (PubMed:29191460, PubMed:32695416). Catalyzes the irreversible decarboxylation of 2-oxoadipate via the thiamine diphosphate (ThDP) cofactor and subsequent transfer of the decarboxylated acyl intermediate on an oxidized dihydrolipoyl group that is covalently amidated to the E2 enzyme (dihydrolipoyllysine-residue succinyltransferase or DLST) (Probable) (PubMed:29752936, PubMed:32303640, PubMed:32633484). Can catalyze the decarboxylation of 2-oxoglutarate in vitro, but at a much lower rate than 2-oxoadipate (PubMed:29191460, PubMed:29752936, PubMed:32633484, PubMed:32695416). Responsible for the last step of L-lysine, L-hydroxylysine and L-tryptophan catabolism with the common product being 2-oxoadipate (Probable). {ECO:0000269|PubMed:29191460, ECO:0000269|PubMed:29752936, ECO:0000269|PubMed:32303640, ECO:0000269|PubMed:32633484, ECO:0000269|PubMed:32695416, ECO:0000305|PubMed:29191460, ECO:0000305|PubMed:29752936, ECO:0000305|PubMed:32303640, ECO:0000305|PubMed:32633484, ECO:0000305|PubMed:32695416}.
uniprot
proteins
mass_dalton
103077
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation. {ECO:0000305|PubMed:29191460, ECO:0000305|PubMed:29752936, ECO:0000305|PubMed:32303640, ECO:0000305|PubMed:32633484, ECO:0000305|PubMed:32695416}.
uniprot
proteins
protein_family
Alpha-ketoglutarate dehydrogenase family
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23141293
uniprot
proteins
pubmed
23141294
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25860818
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26141459
uniprot
proteins
pubmed
29191460
uniprot
proteins
pubmed
29752936
uniprot
proteins
pubmed
32303640
uniprot
proteins
pubmed
32633484
uniprot
proteins
pubmed
32695416
uniprot
proteins
sequence_length
919
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23141294}.
uniprot
proteins