BCAT1 (branched chain amino acid transaminase 1)

2007-02-01  

Identity

HGNC
LOCATION
12p12.1
LOCUSID
ALIAS
BCATC,BCT1,ECA39,MECA39,PNAS121,PP18
FUSION GENES

Other Information

Locus ID:

NCBI: 586
MIM: 113520
HGNC: 976
Ensembl: ENSG00000060982

Variants:

dbSNP: 586
ClinVar: 586
TCGA: ENSG00000060982
COSMIC: BCAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000060982ENST00000261192P54687
ENSG00000060982ENST00000261192A0A024RAV0
ENSG00000060982ENST00000342945P54687
ENSG00000060982ENST00000538118P54687
ENSG00000060982ENST00000539282P54687
ENSG00000060982ENST00000539780P54687
ENSG00000060982ENST00000546285F5H2F2
ENSG00000060982ENST00000612790A0A087WYF2

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine biosynthesisKEGGko00290
Pantothenate and CoA biosynthesisKEGGko00770
Valine, leucine and isoleucine degradationKEGGhsa00280
Valine, leucine and isoleucine biosynthesisKEGGhsa00290
Pantothenate and CoA biosynthesisKEGGhsa00770
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
237930992013BCAT1 promotes cell proliferation through amino acid catabolism in gliomas carrying wild-type IDH1.124
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
178461262007Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populations.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206393922010Genome-wide association analysis identifies multiple loci related to resting heart rate.61
237588642013Over-expression of BCAT1, a c-Myc target gene, induces cell proliferation, migration and invasion in nasopharyngeal carcinoma.51
291444472017BCAT1 restricts αKG levels in AML stem cells leading to IDHmut-like DNA hypermethylation.49
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
286996382017BCAT1 controls metabolic reprogramming in activated human macrophages and is associated with inflammatory diseases.33
192601412009Genome-wide association study of biochemical traits in Korcula Island, Croatia.30

Citation

Dessen P

BCAT1 (branched chain amino acid transaminase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45917/bcat1-(branched-chain-amino-acid-transaminase-1)