DHTKD1

GENERAL INFORMATION

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Gene name

DHTKD1

Gene description

Dehydrogenase E1 and transketolase domain containing 1

Protein class

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

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

A majority of normal tissues displayed moderate cytoplasmic positivity, often granular. Superficial layers in squamous epithelia, paneth cells in the intestine, exocrine pancreas, renal tubules and Purkinje cells showed strong staining. Alveolar cells, bile ducts, glial cells and spleen were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA037950
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

DHTKD1 (HGNC Symbol)

Synonyms

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 78.38)

Entrez gene

55526

UniProt

Q96HY7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96HY7

Antibodypedia

DHTKD1 antibodies


PROTEIN BROWSER

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ENST00000263035
 
ENST00000415935
 
ENST00000437298
 
ENST00000448829
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DHTKD1-001 ENSP00000263035
ENST00000263035
Q96HY7
Show all »
Show » Show » 919 103.1 No 0
DHTKD1-003 ENSP00000398482
ENST00000448829
Show » 214 23.7 No 0
DHTKD1-004 ENSP00000400625
ENST00000415935
H7C1J3
Show all »
Show » Show » 161 18.3 No 0
DHTKD1-006 ENSP00000388163
ENST00000437298
C9JWN1
Show all »
Show » Show » 308 34.3 No 0