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DBT

GENERAL INFORMATION

Gene name

 DBT

Gene description

 Dihydrolipoamide branched chain transacylase E2

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 2
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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

 Granular cytoplasmic expression in most tissues at variable levels.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA026481 , HPA026485 , HPA026533
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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

 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 83.38)

Entrez gene

 1629

UniProt

 P11182 (UniProt - Evidence at protein level)

neXtProt

 NX_P11182

Antibodypedia

 DBT antibodies

PROTEIN BROWSER
DBT-001
DBT-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DBT-001
ENSP00000359151
ENST00000370132
P11182 [Direct mapping]
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
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Enzymes
   ENZYME proteins
   Transferases
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005947 [mitochondrial alpha-ketoglutarate dehydrogenase complex]
GO:0008152 [metabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016746 [transferase activity, transferring acyl groups]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042645 [mitochondrial nucleoid]
GO:0043754 [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity]
GO:0044281 [small molecule metabolic process]
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 482 aa
53.5 kDa 		No 0
DBT-002
ENSP00000359150
ENST00000370131
Q5VVL7 [Direct mapping]
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0016746 [transferase activity, transferring acyl groups]
Show all
 320 aa
36.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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