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DHTKD1
HPA
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  • DHTKD1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

DHTKD1
Synonyms CMT2Q, DKFZP762M115, KIAA1630, MGC3090
Gene descriptioni

Full gene name according to HGNC.

Dehydrogenase E1 and transketolase domain containing 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Metabolic proteins
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 10
Cytoband p14
Chromosome location (bp) 12068954 - 12123221
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

4
Ensembl ENSG00000181192 (version 109)
Entrez gene 55526
HGNC HGNC:23537
UniProt Q96HY7 (UniProt - Evidence at protein level)
neXtProt NX_Q96HY7
GeneCards DHTKD1
Antibodypedia DHTKD1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

2-oxoadipate dehydrogenase (E1a) component of the 2-oxoadipate dehydrogenase complex (OADHC) 1, 2, 3, 4, 5. 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 6, 7. 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) 8, 9, 10. Can catalyze the decarboxylation of 2-oxoglutarate in vitro, but at a much lower rate than 2-oxoadipate 11, 12, 13, 14. Responsible for the last step of L-lysine, L-hydroxylysine and L-tryptophan catabolism with the common product being 2-oxoadipate (Probable).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Oxidoreductase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Glycolysis
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Thiamine pyrophosphate
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
DHTKD1-201
ENSP00000263035
ENST00000263035
Q96HY7
[Direct mapping] 2-oxoadipate dehydrogenase complex component E1
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002244 [hematopoietic progenitor cell differentiation]
GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity]
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006091 [generation of precursor metabolites and energy]
GO:0006096 [glycolytic process]
GO:0006099 [tricarboxylic acid cycle]
GO:0016491 [oxidoreductase activity]
GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor]
GO:0030976 [thiamine pyrophosphate binding]
Show all
919 aa
103.1 kDa
No 0
DHTKD1-202
ENSP00000400625
ENST00000415935
H7C1J3
[Direct mapping] 2-oxoadipate dehydrogenase complex component E1
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity]
GO:0005759 [mitochondrial matrix]
GO:0006099 [tricarboxylic acid cycle]
GO:0016491 [oxidoreductase activity]
GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor]
GO:0030976 [thiamine pyrophosphate binding]
Show all
160 aa
18.2 kDa
No 0
DHTKD1-203
ENSP00000388163
ENST00000437298
C9JWN1
[Direct mapping] 2-oxoadipate dehydrogenase complex component E1
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006099 [tricarboxylic acid cycle]
GO:0016491 [oxidoreductase activity]
GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor]
GO:0030976 [thiamine pyrophosphate binding]
Show all
307 aa
34.2 kDa
No 0
DHTKD1-204
ENSP00000398482
ENST00000448829
H7C149
[Direct mapping] 2-oxoadipate dehydrogenase complex component E1
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity]
GO:0006099 [tricarboxylic acid cycle]
GO:0016491 [oxidoreductase activity]
GO:0030976 [thiamine pyrophosphate binding]
Show all
214 aa
23.7 kDa
No 0

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