ENSG00000060982


Homo sapiens

Features
Gene ID: ENSG00000060982
  
Biological name :BCAT1
  
Synonyms : BCAT1 / branched chain amino acid transaminase 1 / P54687
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p12.1
Gene start: 24810022
Gene end: 24949459
  
Corresponding Affymetrix probe sets: 214390_s_at (Human Genome U133 Plus 2.0 Array)   214452_at (Human Genome U133 Plus 2.0 Array)   225285_at (Human Genome U133 Plus 2.0 Array)   226517_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000440827
Ensembl peptide - ENSP00000440817
Ensembl peptide - ENSP00000443459
Ensembl peptide - ENSP00000481749
Ensembl peptide - ENSP00000261192
Ensembl peptide - ENSP00000339805
Ensembl peptide - ENSP00000438593
NCBI entrez gene - 586     See in Manteia.
OMIM - 113520
RefSeq - XM_017019768
RefSeq - NM_001178091
RefSeq - NM_001178092
RefSeq - NM_001178093
RefSeq - NM_001178094
RefSeq - NM_005504
RefSeq Peptide - NP_001171563
RefSeq Peptide - NP_001171564
RefSeq Peptide - NP_001171565
RefSeq Peptide - NP_005495
RefSeq Peptide - NP_001171562
swissprot - A0A087WYF2
swissprot - A0A024RAV0
swissprot - P54687
swissprot - F5H2F2
Ensembl - ENSG00000060982
  
Related genetic diseases (OMIM): 113520 - ?Hyperleucinemia-isoleucinemia or hypervalinemia
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bcat1ENSDARG00000045568Danio rerio
 BCAT1ENSGALG00000013177Gallus gallus
 Bcat1ENSMUSG00000030268Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BCAT2 / O15382 / branched chain amino acid transaminase 2ENSG0000010555254


Protein motifs (from Interpro)
Interpro ID Name
 IPR001544  Aminotransferase class IV
 IPR005786  Branched-chain amino acid aminotransferase II
 IPR018300  Aminotransferase, class IV, conserved site
 IPR033939  Branched-chain aminotransferase
 IPR036038  Aminotransferase-like, PLP-dependent enzymes


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000082 G1/S transition of mitotic cell cycle TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0009081 branched-chain amino acid metabolic process IEA
 biological_processGO:0009082 branched-chain amino acid biosynthetic process TAS
 biological_processGO:0009083 branched-chain amino acid catabolic process TAS
 biological_processGO:0009098 leucine biosynthetic process IBA
 biological_processGO:0009099 valine biosynthetic process IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IBA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004084 branched-chain-amino-acid transaminase activity TAS
 molecular_functionGO:0008483 transaminase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0052654 L-leucine transaminase activity IEA
 molecular_functionGO:0052655 L-valine transaminase activity IEA
 molecular_functionGO:0052656 L-isoleucine transaminase activity IEA


Pathways (from Reactome)
Pathway description
Branched-chain amino acid catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000060982 BCAT1 / P54687 / branched chain amino acid transaminase 1  / complex






 

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