BCAT1

GENE INFORMATION

? »

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)

24964295 - 25102393

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000060982 (version 75.37)

Entrez gene

586

UniProt

P54687 (UniProt - Evidence at protein level)

neXtProt

NX_P54687

Antibodypedia

BCAT1 antibodies
 

PROTEIN VIEW

? »
 
 
 
BCAT1-001
 
BCAT1-002
 
BCAT1-003
 
BCAT1-004
 
BCAT1-006
 
BCAT1-008
 
 
 
 
 

PROTEIN INFORMATION

? »

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