help  | about  | cite  | software

Gene : BCAT1 Homo sapiens

Name  ? branched chain amino acid transaminase 1 Cytological Location  12p12.1
Brief Description  branched chain amino acid transaminase 1
Description  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]
  • synonyms:
  • PP18,
  • BCT1,
  • uc001rgd.5,
  • MECA39,
  • PNAS121,
  • BCATC,
  • branched chain aminotransferase 1, cytosolic,
  • BCAT1,
  • BCT1,
  • NM_005504,
  • ECA39,
  • OTTHUMG00000169053,
  • HGNC:976
  • identifiers:
  • 586,
  • ENSG00000060982,
  • BCAT1

Genome feature

Region: gene ? Length: 139078  
Location: 12:24810024-24949101 reverse strand Cyto location: 12p12.1

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer

Gene --> Orthologues


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3756 SN Ps

5 Cross References

17 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results