Version 5.4
Homo sapiens Gene: BCAT1
Summary
InnateDB Gene IDBG-23682.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BCAT1
Gene Name branched chain amino-acid transaminase 1, cytosolic
Synonyms BCATC; BCT1; ECA39; MECA39; PNAS121; PP18
Species Homo sapiens
Ensembl Gene ENSG00000060982
Encoded Proteins
IDBP-23684
branched chain amino-acid transaminase 1, cytosolic
IDBP-23686
branched chain amino-acid transaminase 1, cytosolic
IDBP-592015
branched chain amino-acid transaminase 1, cytosolic
IDBP-598785
branched chain amino-acid transaminase 1, cytosolic
IDBP-596577
branched chain amino-acid transaminase 1, cytosolic
IDBP-598708
branched chain amino-acid transaminase 1, cytosolic
IDBP-811468
branched chain amino-acid transaminase 1, cytosolic
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:24810022-24949459
Strand Reverse strand
Band p12.1
Transcripts
ENST00000261192 ENSP00000261192
ENST00000342945 ENSP00000339805
ENST00000355164
ENST00000538118 ENSP00000440817
ENST00000539282 ENSP00000443459
ENST00000543099
ENST00000539780 ENSP00000440827
ENST00000544418
ENST00000546285 ENSP00000438593
ENST00000612790 ENSP00000481749
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004084 branched-chain-amino-acid transaminase activity
GO:0042802 identical protein binding
GO:0052654 L-leucine transaminase activity
GO:0052655 L-valine transaminase activity
GO:0052656 L-isoleucine transaminase activity
Biological Process
GO:0000082 G1/S transition of mitotic cell cycle
GO:0008152 metabolic process
GO:0008283 cell proliferation
GO:0009081 branched-chain amino acid metabolic process
GO:0009082 branched-chain amino acid biosynthetic process
GO:0009083 branched-chain amino acid catabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030268
View Gene Order
ENSBTAG00000013825
Not yet available
Pathways
NETPATH
REACTOME
REACT_197
Branched-chain amino acid catabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00290
Valine, leucine and isoleucine biosynthesis pathway
hsa00280
Valine, leucine and isoleucine degradation pathway
hsa00770
Pantothenate and CoA biosynthesis pathway
INOH
INOH website
Valine Leucine Isoleucine degradation pathway
PID NCI
myc_activpathway
Validated targets of C-MYC transcriptional activation
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 586
UniGene
RefSeq NM_001178091 NM_001178092 NM_001178093 NM_001178094 NM_005504
HUGO HGNC:976
OMIM 113520
CCDS CCDS44845 CCDS53760 CCDS53761 CCDS53762 CCDS53763
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 586

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca