• Gene id: 586

Gene Summary

• Gene Symbol: BCAT1   Gene   UCSC   Ensembl
• Aliases: BCATC, BCT1, ECA39, MECA39, PNAS121, PP18
• Gene name: branched chain amino acid transaminase 1
• Alternate names: branched-chain-amino-acid aminotransferase, cytosolic, branched chain amino-acid transaminase 1, cytosolic, branched chain aminotransferase 1, cytosolic, placental protein 18,
• Gene location: 12p12.1 (24949100: 24810023)     Exons: 14     NC_000012.12
• Gene summary(Entrez): 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 clin
• OMIM: 113520

SNPs

rs17115149

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102837961G>A
NC_000010.11   g.102837961G>T
NC_000010.10   g.104597718G>A
NC_000010.10   g.104597718G>T
NG_007955.1   g.4573C>T
NG_007955.1   g.4573C>A
NG_055002.1   g.689G>A
NG_055002.1   g.689G>T|SEQ=[G/A/T]|GENE=CYP17A1

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

Protein Summary

• Protein general information: P54687  
  • Name: Branched chain amino acid aminotransferase, cytosolic (BCAT(c)) (EC 2.6.1.42) (Protein ECA39)
  • Length: 386  
  • Mass: 42966
  • Tissue specificity: During embryogenesis, expressed in the brain and kidney. Overexpressed in MYC-induced tumors such as Burkitt's lymphoma.
• Sequence:

  MKDCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEKPHIKP
  LQNLSLHPGSSALHYAVELFEGLKAFRGVDNKIRLFQPNLNMDRMYRSAVRATLPVFDKEELLECIQQLVKLDQE
  WVPYSTSASLYIRPTFIGTEPSLGVKKPTKALLFVLLSPVGPYFSSGTFNPVSLWANPKYVRAWKGGTGDCKMGG
  NYGSSLFAQCEAVDNGCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPPLDGIILPGVTRRCILDLAHQ
  WGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETIHIPTMENGPKLASRILSKLTDIQYG
  REESDWTIVLS

• Structural information:
  • Interpro: IPR001544  IPR018300  IPR036038  IPR005786  IPR033939  
  • Prosite: PS00770
  • CDD: cd01557
  • PDB: 2ABJ 2COG 2COI 2COJ
  • PDBsum: 2ABJ 2COG 2COI 2COJ
  • STRING: ENSP00000443459
• Other Databases: GeneCards:  BCAT1  Malacards:  BCAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009098	leucine biosynthetic process	IBA	biological process
GO:0009099	valine biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004084	branched-chain-amino-acid transaminase activity	IBA	molecular function
GO:0009081	branched-chain amino acid metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004084	branched-chain-amino-acid transaminase activity	IEA	molecular function
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008483	transaminase activity	IEA	molecular function
GO:0009082	branched-chain amino acid biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004084	branched-chain-amino-acid transaminase activity	TAS	molecular function
GO:0009082	branched-chain amino acid biosynthetic process	TAS	biological process
GO:0000082	G1/S transition of mitotic cell cycle	TAS	biological process
GO:0052654	L-leucine transaminase activity	IEA	molecular function
GO:0052656	L-isoleucine transaminase activity	IEA	molecular function
GO:0052655	L-valine transaminase activity	IEA	molecular function
GO:0004084	branched-chain-amino-acid transaminase activity	IEA	molecular function
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004084	branched-chain-amino-acid transaminase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01230	Biosynthesis of amino acids
hsa00280	Valine, leucine and isoleucine degradation
hsa00270	Cysteine and methionine metabolism
hsa00770	Pantothenate and CoA biosynthesis
hsa01210	2-Oxocarboxylic acid metabolism
hsa00290	Valine, leucine and isoleucine biosynthesis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)