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Details on Person UniProt:Q96HY7 DHTKD1

Class:IdReferenceGeneProduct:226982
_chainChangeLogtransit peptide:1- added on Fri February 6 2015;chain:-919 added on Fri February 6 2015
_displayNameUniProt:Q96HY7 DHTKD1
_timestamp2025-05-21 21:11:21
chaintransit peptide:1-
chain:-919
checksumCD1E437F919324B6
commentFUNCTION 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).CATALYTIC ACTIVITY N(6)-[(R)-lipoyl]-L-lysyl-[protein] + 2-oxoadipate + H(+) = N(6)-[(R)-S(8)-glutaryldihydrolipoyl]-L-lysyl-[protein] + CO2COFACTOR Amino-acid degradation.SUBUNIT The 2-oxoadipate dehydrogenase complex is composed of OADH (2-oxoadipate dehydrogenase; E1a), DLST (dihydrolipoamide succinyltransferase; E2) and DLD (dihydrolipoamide dehydrogenase; E3). E1a functional unit is a dimer. Interacts with DLST (PubMed:32695416).INTERACTION The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS The mitochondrial 2-oxoglutarate and 2-oxoadipate dehydrogenase complexes (OGDHC and OADHC, respectively) share their E2 (DLST) and E3 (dihydrolipoyl dehydrogenase or DLD) components, but the E1 component is specific to each complex (E1o and E1a, respectively).SIMILARITY Belongs to the alpha-ketoglutarate dehydrogenase family.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Chimeric cDNA. C-terminal exons are derived from the neighboring gene.
created[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
descriptionrecommendedName: 2-oxoadipate dehydrogenase complex component E1 shortName evidence="16 19"E1a shortName: OADC-E1 shortName: OADH-E1 ecNumber evidence="12 14 21 25"1.2.4.- alternativeName: 2-oxoadipate dehydrogenase, mitochondrial alternativeName: Alpha-ketoadipate dehydrogenase shortName: Alpha-KADH-E1 alternativeName: Dehydrogenase E1 and transketolase domain-containing protein 1 alternativeName: Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
geneNameDHTKD1
KIAA1630
identifierQ96HY7
isSequenceChangedFALSE
keyword3D-structure
Charcot-Marie-Tooth disease
Disease variant
Glycolysis
Mitochondrion
Neurodegeneration
Neuropathy
Oxidoreductase
Proteomics identification
Reference proteome
Thiamine pyrophosphate
Transit peptide
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
nameDHTKD1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8962379] ENSEMBL:ENSG00000181192 DHTKD1 [Homo sapiens]
secondaryIdentifierDHTK1_HUMAN
Q68CU5
Q9BUM8
Q9HCE2
sequenceLength919
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:6792669] DHTKD1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:6792672] lipo-K-DHTKD1 [mitochondrial matrix] [Homo sapiens]
(referenceSequence)[ModifiedResidue:6792671] N6-lipoyl-L-lysine at 188
[ModifiedResidue:6792673] N6-lipoyl-L-lysine at 183
[ModifiedResidue:6792674] N6-lipoyl-L-lysine at 818
[ModifiedResidue:6792675] N6-lipoyl-L-lysine at 800
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No pathways have been reviewed or authored by UniProt:Q96HY7 DHTKD1 (226982)