BCAT1

GENERAL INFORMATION

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Gene name

BCAT1

Gene description

Branched chain amino-acid transaminase 1, cytosolic

Protein class

Enzymes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Tissue enhanced (pancreas)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed weak to moderate nuclear staining with additional cytoplasmic positivity in many cases. Smooth muscle cells exhibited strong cytoplasmic staining. Lymphoid tissues, soft tissues, lung, breast, liver, heart and skeletal muscle cells were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA048592
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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

Smooth muscle

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:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (pancreas)

Organ

Expression



GENE INFORMATION

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Gene name

BCAT1 (HGNC Symbol)

Synonyms

BCT1

Description

Branched chain amino-acid transaminase 1, cytosolic (HGNC Symbol)

Entrez gene summary

This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

Chromosome

12

Cytoband

p12.1

Chromosome location (bp)

24810022 - 24949459

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000060982 (version 78.38)

Entrez gene

586

UniProt

P54687 (UniProt - Evidence at protein level)

neXtProt

NX_P54687

Antibodypedia

BCAT1 antibodies


PROTEIN BROWSER

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ENST00000261192
 
ENST00000342945
 
ENST00000538118
 
ENST00000539282
 
ENST00000539780
 
ENST00000546285
 
 
 
 


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)

BCAT1-001 ENSP00000261192
ENST00000261192
P54687
Show all »
Show » Show » 386 43 No 0
BCAT1-002 ENSP00000339805
ENST00000342945
P54687
Show all »
Show » Show » 325 36.3 No 0
BCAT1-003 ENSP00000440827
ENST00000539780
P54687
Show all »
Show » Show » 349 38.6 No 0
BCAT1-004 ENSP00000443459
ENST00000539282
P54687
Show all »
Show » Show » 398 44.1 No 0
BCAT1-006 ENSP00000440817
ENST00000538118
P54687
Show all »
Show » Show » 385 42.8 No 0
BCAT1-008 ENSP00000438593
ENST00000546285
F5H2F2
Show all »
Show » Show » 144 16.5 No 0