DBT

GENERAL INFORMATION

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Gene name

DBT

Gene description

Dihydrolipoamide branched chain transacylase E2

Protein class

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

Predicted localization

Intracellular

Number of transcripts

2
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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

Granular cytoplasmic expression in most tissues at variable levels.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA026481 , HPA026485 , HPA026533
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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

Gallbladder

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

DBT

Synonyms

Description

Dihydrolipoamide branched chain transacylase E2 (HGNC Symbol)

Entrez gene summary

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

p21.2

Chromosome location (bp)

100186919 - 100249834

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000137992 (version 78.38)

Entrez gene

1629

UniProt

P11182 (UniProt - Evidence at protein level)

neXtProt

NX_P11182

Antibodypedia

DBT antibodies


PROTEIN BROWSER

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ENST00000370131
 
ENST00000370132
 
 
 
 


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)

DBT-001 ENSP00000359151
ENST00000370132
P11182
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Show » Show » 482 53.5 No 0
DBT-002 ENSP00000359150
ENST00000370131
Q5VVL7
Show all »
Show » Show » 320 36.2 No 0