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Gene name

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Detectable

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DHTKD1
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

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
SHOW MORE

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
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical
Cerebral cortexHippocampusCaudateCerebellumThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleNasopharynxBronchusLungLiverGallbladderPancreasOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSoft tissueSkinNotdetectedLowMediumHighSCORE

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Cerebral cortexThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSkin010203040506070TPM
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
HypothalamusPituitary glandCerebral cortexHippocampusCaudateCerebellumThyroid glandAdrenal glandSpleenHeart muscleSkeletal muscleLungLiverPancreasSalivary glandEsophagusStomachSmall intestineColonKidneyUrinary bladderTestisProstateBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryAdipose tissueSkin05101520253035RPKM
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Pituitary glandBrainHippocampusCaudateCerebellumThyroid glandAppendixLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusSmall intestineColonKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumOvaryPlacentaAdipose tissueRetina020406080100120Tags Per Million

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
Show all
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]
Show all
919 aa
103.1 kDa
No 0
DHTKD1-003
ENSP00000398482
ENST00000448829
H7C149 [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: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
Show all
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

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