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MT000072

Record overview

MITO IDMT000072
Gene ID586
SpeciesHomo sapiens (Human)
Gene Namebranched chain amino-acid transaminase 1, cytosolic
Gene SymbolBCAT1
SynonymsBCT1; PP18; BCATC; ECA39; MECA39; PNAS121;
Alternate namesbranched-chain-amino-acid aminotransferase, cytosolic; placental protein 18; branched chain aminotransferase 1, cytosolic;
Chromosome12
Map Location12p12.1
EC Number2.6.1.42
SummaryThis 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]
OrthologsView orthologs and multiple alignments for BCAT1

Proteins

branched-chain-amino-acid aminotransferase, cytosolic isoform 1
Refseq ID:NP_005495
Protein GI:38176287
UniProt ID:P54687
mRNA ID:NM_005504
Length:386
RefSeq Status:
MKDCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEKPHIKPLQNLSLHPGSSALHYAVELFEGLKA
FRGVDNKIRLFQPNLNMDRMYRSAVRATLPVFDKEELLECIQQLVKLDQEWVPYSTSASLYIRPTFIGTEPSLGVKKPTKALLFVLLSPVGPYFSSGTFN
PVSLWANPKYVRAWKGGTGDCKMGGNYGSSLFAQCEAVDNGCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPPLDGIILPGVTRRCILDLAHQ
WGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETIHIPTMENGPKLASRILSKLTDIQYGREESDWTIVLS
 
branched-chain-amino-acid aminotransferase, cytosolic isoform 2
Refseq ID:NP_001171562
Protein GI:296010900
UniProt ID:P54687
mRNA ID:NM_001178091
Length:349
RefSeq Status:
MKDCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEKPHIKPLQNLSLHPGSSALHYAVEVFDKEEL
LECIQQLVKLDQEWVPYSTSASLYIRPTFIGTEPSLGVKKPTKALLFVLLSPVGPYFSSGTFNPVSLWANPKYVRAWKGGTGDCKMGGNYGSSLFAQCEA
VDNGCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPPLDGIILPGVTRRCILDLAHQWGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVV
CPVSDILYKGETIHIPTMENGPKLASRILSKLTDIQYGREESDWTIVLS
 
branched-chain-amino-acid aminotransferase, cytosolic isoform 3
Refseq ID:NP_001171563
Protein GI:296010902
UniProt ID:P54687
mRNA ID:NM_001178092
Length:325
RefSeq Status:
MKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEKPHIKPLQNLSLHPGSSALHYAVEVFDKEELLECIQQLVKLDQEWVPYSTSASLY
IRPTFIGTEPSLGVKKPTKALLFVLLSPVGPYFSSGTFNPVSLWANPKYVRAWKGGTGDCKMGGNYGSSLFAQCEAVDNGCQQVLWLYGEDHQITEVGTM
NLFLYWINEDGEEELATPPLDGIILPGVTRRCILDLAHQWGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETIHIPTMENGPKL
ASRILSKLTDIQYGREESDWTIVLS
 
branched-chain-amino-acid aminotransferase, cytosolic isoform 4
Refseq ID:NP_001171564
Protein GI:296010904
UniProt ID:P54687
mRNA ID:NM_001178093
Length:398
RefSeq Status:
MASPLRSAAALARQDCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEKPHIKPLQNLSLHPGSSAL
HYAVELFEGLKAFRGVDNKIRLFQPNLNMDRMYRSAVRATLPVFDKEELLECIQQLVKLDQEWVPYSTSASLYIRPTFIGTEPSLGVKKPTKALLFVLLS
PVGPYFSSGTFNPVSLWANPKYVRAWKGGTGDCKMGGNYGSSLFAQCEAVDNGCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPPLDGIILPG
VTRRCILDLAHQWGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETIHIPTMENGPKLASRILSKLTDIQYGREESDWTIVLS
 
branched-chain-amino-acid aminotransferase, cytosolic isoform 5
Refseq ID:NP_001171565
Protein GI:296010906
UniProt ID:P54687
mRNA ID:NM_001178094
Length:385
RefSeq Status:
MDCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEKPHIKPLQNLSLHPGSSALHYAVELFEGLKAF
RGVDNKIRLFQPNLNMDRMYRSAVRATLPVFDKEELLECIQQLVKLDQEWVPYSTSASLYIRPTFIGTEPSLGVKKPTKALLFVLLSPVGPYFSSGTFNP
VSLWANPKYVRAWKGGTGDCKMGGNYGSSLFAQCEAVDNGCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPPLDGIILPGVTRRCILDLAHQW
GEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETIHIPTMENGPKLASRILSKLTDIQYGREESDWTIVLS