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DHTKD1

GENERAL INFORMATION

Gene name

 DHTKD1

Gene description

 Dehydrogenase E1 and transketolase domain containing 1

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression with a granular pattern in most tissues. High levels in renal tubules.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 3 antibodies.
HPA037949 , HPA037950 , HPA066098
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 DHTKD1 (HGNC Symbol)

Synonyms

 CMT2Q, DKFZP762M115, KIAA1630, MGC3090

Description

 Dehydrogenase E1 and transketolase domain containing 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 10

Cytoband

 p14

Chromosome location (bp)

 12068972 - 12123225

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000181192 (version 83.38)

Entrez gene

 55526

UniProt

 Q96HY7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96HY7

Antibodypedia

 DHTKD1 antibodies

PROTEIN BROWSER
DHTKD1-001
DHTKD1-003
DHTKD1-004
DHTKD1-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DHTKD1-001
ENSP00000263035
ENST00000263035
Q96HY7 [Direct mapping]
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002244 [hematopoietic progenitor cell differentiation]
GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity]
GO:0005739 [mitochondrion]
GO:0006091 [generation of precursor metabolites and energy]
GO:0006096 [glycolytic process]
GO:0006099 [tricarboxylic acid cycle]
GO:0008152 [metabolic process]
GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor]
GO:0030976 [thiamine pyrophosphate binding]
GO:0045252 [oxoglutarate dehydrogenase complex]
GO:0055114 [oxidation-reduction process]
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 919 aa
103.1 kDa 		No 0
DHTKD1-003
ENSP00000398482
ENST00000448829
H7C149 [Direct mapping]
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity]
GO:0006099 [tricarboxylic acid cycle]
GO:0030976 [thiamine pyrophosphate binding]
GO:0045252 [oxoglutarate dehydrogenase complex]
Show all
 214 aa
23.7 kDa 		No 0
DHTKD1-004
ENSP00000400625
ENST00000415935
H7C1J3 [Direct mapping]
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity]
GO:0006099 [tricarboxylic acid cycle]
GO:0008152 [metabolic process]
GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor]
GO:0030976 [thiamine pyrophosphate binding]
GO:0045252 [oxoglutarate dehydrogenase complex]
Show all
 161 aa
18.3 kDa 		No 0
DHTKD1-006
ENSP00000388163
ENST00000437298
C9JWN1 [Direct mapping]
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004591 [oxoglutarate dehydrogenase (succinyl-transferring) activity]
GO:0005739 [mitochondrion]
GO:0006099 [tricarboxylic acid cycle]
GO:0008152 [metabolic process]
GO:0016624 [oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor]
GO:0030976 [thiamine pyrophosphate binding]
GO:0045252 [oxoglutarate dehydrogenase complex]
Show all
 308 aa
34.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.