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Aliases for BCAT1 Gene

Aliases for BCAT1 Gene

  • Branched Chain Amino-Acid Transaminase 1, Cytosolic 2 3
  • BCT1 3 4 6
  • Branched Chain Aminotransferase 1, Cytosolic 2 3
  • EC 4 63
  • ECA39 3 4
  • Branched-Chain-Amino-Acid Aminotransferase, Cytosolic 3
  • Placental Protein 18 3
  • Protein ECA39 4
  • PNAS121 3
  • BCAT(C) 4
  • MECA39 3
  • BCATC 3
  • PP18 3

External Ids for BCAT1 Gene

Previous HGNC Symbols for BCAT1 Gene

  • BCT1

Previous GeneCards Identifiers for BCAT1 Gene

  • GC12M025327
  • GC12M024982
  • GC12M024868
  • GC12M024861
  • GC12M024855

Summaries for BCAT1 Gene

Entrez Gene Summary for BCAT1 Gene

  • 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]

GeneCards Summary for BCAT1 Gene

BCAT1 (Branched Chain Amino-Acid Transaminase 1, Cytosolic) is a Protein Coding gene. Diseases associated with BCAT1 include hyperleucine-isoleucinemia. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include identical protein binding and L-valine transaminase activity. An important paralog of this gene is BCAT2.

UniProtKB/Swiss-Prot for BCAT1 Gene

  • Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAT1 Gene

Genomics for BCAT1 Gene

Regulatory Elements for BCAT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BCAT1 Gene

24,810,022 bp from pter
24,949,459 bp from pter
139,438 bases
Minus strand

Genomic View for BCAT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAT1 Gene

Proteins for BCAT1 Gene

  • Protein details for BCAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Branched-chain-amino-acid aminotransferase, cytosolic
    Protein Accession:
    Secondary Accessions:
    • B3KY27
    • B7Z2M5
    • B7Z5L0
    • F5H5E4
    • Q68DQ7
    • Q96MY9

    Protein attributes for BCAT1 Gene

    386 amino acids
    Molecular mass:
    42966 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for BCAT1 Gene

    Alternative splice isoforms for BCAT1 Gene


neXtProt entry for BCAT1 Gene

Proteomics data for BCAT1 Gene at MOPED

Selected DME Specific Peptides for BCAT1 Gene

Post-translational modifications for BCAT1 Gene

  • Ubiquitination at Lys305 and Lys368
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BCAT1 (BCAT1)

Domains for BCAT1 Gene

Protein Domains for BCAT1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.
  • Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with BCAT1: view

No data available for Gene Families for BCAT1 Gene

Function for BCAT1 Gene

Molecular function for BCAT1 Gene

GENATLAS Biochemistry:
branched chain aminotransferase 1,cytosolic and mitochondrial
UniProtKB/Swiss-Prot CatalyticActivity:
L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamate
UniProtKB/Swiss-Prot CatalyticActivity:
L-isoleucine + 2-oxoglutarate = (S)-3-methyl-2-oxopentanoate + L-glutamate
UniProtKB/Swiss-Prot CatalyticActivity:
L-valine + 2-oxoglutarate = 3-methyl-2-oxobutanoate + L-glutamate
UniProtKB/Swiss-Prot Function:
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine

Enzyme Numbers (IUBMB) for BCAT1 Gene

Gene Ontology (GO) - Molecular Function for BCAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004084 branched-chain-amino-acid transaminase activity EXP --
GO:0042802 identical protein binding IEA --
GO:0052654 L-leucine transaminase activity IEA --
GO:0052655 L-valine transaminase activity IEA --
genes like me logo Genes that share ontologies with BCAT1: view

Phenotypes for BCAT1 Gene

GenomeRNAi human phenotypes for BCAT1:
genes like me logo Genes that share phenotypes with BCAT1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BCAT1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for BCAT1 Gene

Localization for BCAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAT1 Gene


Subcellular locations from

Jensen Localization Image for BCAT1 Gene COMPARTMENTS Subcellular localization image for BCAT1 gene
Compartment Confidence
cytosol 4
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BCAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BCAT1: view

Pathways for BCAT1 Gene

genes like me logo Genes that share pathways with BCAT1: view

PCR Array Products

Interacting Proteins for BCAT1 Gene

Gene Ontology (GO) - Biological Process for BCAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS 8692959
GO:0008152 metabolic process --
GO:0008283 cell proliferation TAS 6933702
GO:0009081 branched-chain amino acid metabolic process --
GO:0009082 branched-chain amino acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with BCAT1: view

Drugs for BCAT1 Gene

(7) Drugbank Compounds for BCAT1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • 1-(Aminomethyl)cyclohexaneacetic acid
60142-96-3 3446 Enzyme inhibitor approved, investigational
  • (2S,3S)-2-Amino-3-methylpentanoic acid
73-32-5 6306 Target approved, nutraceutical
  • (2S)-2-Amino-4-methylpentanoic acid
61-90-5 Target approved, nutraceutical
  • (2S)-2-Amino-3-methylbutanoic acid
72-18-4 Target, Enzyme substrate approved, nutraceutical
6914573 Target experimental

(11) HMDB Compounds for BCAT1 Gene

Compound Synonyms Cas Number PubMed IDs
3-Methyl-2-oxovaleric acid
  • (3R)-3-Methyl-2-oxopentanoate
Alpha-ketoisovaleric acid
  • 2-Keto-3-Methylbutyrate
  • Gastridan
  • Neurontin
  • 2-Keto-4-Methylvalerate

(5) Novoseek inferred chemical compound relationships for BCAT1 Gene

Compound -log(P) Hits PubMed IDs
isoleucine 66.8 2
leucine 56.5 3
alpha-ketoglutarate 54.6 2
valine 54.3 1
glutamate 24.9 3
genes like me logo Genes that share compounds with BCAT1: view

Transcripts for BCAT1 Gene

Unigene Clusters for BCAT1 Gene

Branched chain amino-acid transaminase 1, cytosolic:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BCAT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCAT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: - - - - - - -
SP2: - - - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - - - -
SP8: -

Relevant External Links for BCAT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BCAT1 Gene

mRNA expression in normal human tissues for BCAT1 Gene

mRNA differential expression in normal tissues according to GTEx for BCAT1 Gene

This gene is overexpressed in Pancreas (6.2).

Protein differential expression in normal tissues for BCAT1 Gene

This gene is overexpressed in Bone marrow stromal cell (14.1), Testis (13.4), and Retina (10.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCAT1 Gene

SOURCE GeneReport for Unigene cluster for BCAT1 Gene Hs.438993

mRNA Expression by UniProt/SwissProt for BCAT1 Gene

Tissue specificity: During embryogenesis, expressed in the brain and kidney. Overexpressed in MYC-induced tumors such as Burkitts lymphoma
genes like me logo Genes that share expressions with BCAT1: view

Expression partners for BCAT1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for BCAT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCAT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BCAT1 35
  • 87.97 (n)
  • 90.13 (a)
BCAT1 36
  • 90 (a)
(Canis familiaris)
Mammalia BCAT1 35
  • 91.69 (n)
  • 93.25 (a)
BCAT1 36
  • 93 (a)
(Mus musculus)
Mammalia Bcat1 35
  • 80.52 (n)
  • 84.13 (a)
Bcat1 16
Bcat1 36
  • 74 (a)
(Pan troglodytes)
Mammalia BCAT1 35
  • 99.75 (n)
  • 99.75 (a)
BCAT1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Bcat1 35
  • 76.91 (n)
  • 76.32 (a)
(Monodelphis domestica)
Mammalia BCAT1 36
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia BCAT1 36
  • 84 (a)
(Gallus gallus)
Aves BCAT1 35
  • 75.28 (n)
  • 77.02 (a)
BCAT1 36
  • 76 (a)
(Anolis carolinensis)
Reptilia BCAT1 36
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bcat1 35
  • 66.23 (n)
  • 71.05 (a)
Str.15554 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14452 35
(Danio rerio)
Actinopterygii bcat1 35
  • 65.68 (n)
  • 71.35 (a)
wufj66g02 35
bcat1 36
  • 69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1673 37
  • 55 (a)
CG1673 35
  • 54.41 (n)
  • 52.32 (a)
CG1673 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000011 35
  • 53.41 (n)
  • 52.59 (a)
(Caenorhabditis elegans)
Secernentea Y44A6D.5 37
  • 44 (a)
bcat-1 35
  • 57.58 (n)
  • 54.55 (a)
bcat-1 36
  • 46 (a)
Y44A6D.5 36
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL384W 35
  • 52.19 (n)
  • 46.86 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BAT2 35
  • 55.23 (n)
  • 51.16 (a)
BAT1 36
  • 44 (a)
BAT2 36
  • 47 (a)
BAT2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ATBCAT-5 35
  • 45.19 (n)
  • 37.39 (a)
(Oryza sativa)
Liliopsida Os05g0558400 35
  • 46.42 (n)
  • 37.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7238 36
  • 55 (a)
Species with no ortholog for BCAT1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCAT1 Gene

Gene Tree for BCAT1 (if available)
Gene Tree for BCAT1 (if available)

Paralogs for BCAT1 Gene

Paralogs for BCAT1 Gene

(1) SIMAP similar genes for BCAT1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BCAT1: view

Variants for BCAT1 Gene

Sequence variations from dbSNP and Humsavar for BCAT1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs11047710 -- 24,932,848(+) GCTCC(A/G)TCGCC intron-variant
rs11047711 -- 24,932,880(+) AACCT(C/T)GGCTC intron-variant
rs11047709 -- 24,931,666(+) CTAAC(C/T)TAGGA intron-variant
rs11047708 -- 24,931,593(+) ACTTC(C/T)TATCA intron-variant
rs11047707 -- 24,931,407(+) AAAGA(C/G)GGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCAT1 Gene

Variant ID Type Subtype PubMed ID
esv2422312 CNV Duplication 17116639
nsv898920 CNV Gain 21882294
nsv469169 CNV Gain 19166990
nsv469173 CNV Gain 19166990
nsv826283 CNV Loss 20364138
nsv819279 CNV Loss 19587683
nsv646 CNV Insertion 18451855
nsv520878 CNV Loss 19592680
nsv832353 CNV Gain 17160897
nsv525641 CNV Gain 19592680
esv2667659 CNV Deletion 23128226

Relevant External Links for BCAT1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAT1 Gene

Disorders for BCAT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for BCAT1 Gene in MalaCards »

(1) Disease for BCAT1 Gene

Relevant External Links for BCAT1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with BCAT1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for BCAT1 Gene

Publications for BCAT1 Gene

  1. Structural determinants for branched-chain aminotransferase isozyme- specific inhibition by the anticonvulsant drug gabapentin. (PMID: 16141215) Goto M. … Hutson S.M. (J. Biol. Chem. 2005) 3 4 23 25
  2. Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm). (PMID: 9165094) Bledsoe R.K. … Hutson S.M. (Biochim. Biophys. Acta 1997) 2 3
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 48
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for BCAT1 Gene

Sources for BCAT1 Gene

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