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Aliases for BCAT1 Gene

Aliases for BCAT1 Gene

  • Branched Chain Amino Acid Transaminase 1 2 3 5
  • Branched Chain Aminotransferase 1, Cytosolic 2 3
  • ECA39 3 4
  • BCT1 3 4
  • Branched-Chain-Amino-Acid Aminotransferase, Cytosolic 3
  • Branched Chain Amino-Acid Transaminase 1, Cytosolic 3
  • Placental Protein 18 3
  • Protein ECA39 4
  • EC 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) is a Protein Coding gene. Diseases associated with BCAT1 include Hyperleucine-Isoleucinemia and Small Intestine Neuroendocrine Neoplasm. Among its related pathways are Valine, leucine and isoleucine degradation and Validated targets of C-MYC transcriptional activation. Gene Ontology (GO) annotations related to this gene include identical protein binding and L-leucine 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.

Additional gene information for BCAT1 Gene

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

Genomics for BCAT1 Gene

GeneHancer (GH) Regulatory Elements for BCAT1 Gene

Promoters and enhancers for BCAT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J024943 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 658 +2.1 2067 7.7 ZFP64 DMAP1 IRF4 ZNF213 SP3 NFYC MEF2D ZNF610 GLIS1 NBN BCAT1 ENSG00000255921 TDGP1 LRMP CASC1 DAD1P1
GH12J024899 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 665.6 +46.9 46930 5.4 ATF1 PKNOX1 BATF IRF4 EGR1 ZNF366 ATF7 FOS ETV6 IKZF2 BCAT1 ENSG00000278969 TDGP1 KRAS DAD1P1
GH12J024920 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +27.4 27355 2.5 SRF JUN CEBPB JUNB CEBPG MNT BATF ZNF395 FOSL1 ATF4 BCAT1 KRAS DAD1P1 ENSG00000255921
GH12J024898 Enhancer 0.9 Ensembl ENCODE dbSUPER 16.5 +50.9 50915 0.5 MEIS2 ZNF362 EGR1 FOS BCAT1 LRMP ENSG00000278969 LOC105369699
GH12J024933 Enhancer 0.7 dbSUPER 21.1 +15.6 15567 1.6 BRD4 HDGF GTF2F1 ATF1 NFATC3 TAF9B NFRKB TEAD4 E4F1 POLR2B BCAT1 DAD1P1 ENSG00000255921
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCAT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCAT1 gene promoter:
  • FOXO1a
  • FOXO1
  • IRF-7A
  • AML1a

Genomic Locations for BCAT1 Gene

Genomic Locations for BCAT1 Gene
139,438 bases
Minus strand
139,436 bases
Minus strand

Genomic View for BCAT1 Gene

Genes around BCAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for BCAT1 Gene

  • Ubiquitination at Lys368 and posLast=305305
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BCAT1 Gene

Domains & Families for BCAT1 Gene

Gene Families for BCAT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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

Function for BCAT1 Gene

Molecular function for BCAT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.
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.
GENATLAS Biochemistry:
branched chain aminotransferase 1,cytosolic and mitochondrial

Enzyme Numbers (IUBMB) for BCAT1 Gene

Phenotypes From GWAS Catalog for BCAT1 Gene

Gene Ontology (GO) - Molecular Function for BCAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004084 branched-chain-amino-acid transaminase activity TAS,IBA --
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with BCAT1: view
genes like me logo Genes that share phenotypes with BCAT1: view

Animal Models for BCAT1 Gene

MGI Knock Outs for BCAT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for BCAT1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAT1

Clone Products

No data available for Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCAT1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BCAT1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCAT1 Gene

Pathways & Interactions for BCAT1 Gene

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

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 IEA --
GO:0008283 cell proliferation TAS 6933702
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0009081 branched-chain amino acid metabolic process IEA --
genes like me logo Genes that share ontologies with BCAT1: view

No data available for SIGNOR curated interactions for BCAT1 Gene

Drugs & Compounds for BCAT1 Gene

(13) Drugs for BCAT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gabapentin Approved, Investigational Pharma Enzyme, inhibitor GABA enhancer 332
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
L-Isoleucine Approved, Investigational Nutra Target 0
L-Leucine Approved Nutra Target 0
L-Valine Approved Nutra Target, Enzyme, substrate 0

(4) Additional Compounds for BCAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Methyl-2-oxovaleric acid
  • 2-oxo-3-Methyl-N-valeric acid
  • 2-oxo-3-Methylpentanoic acid
  • 2-oxo-3-Methylvalerate
  • 2-oxo-3-Methylvaleric acid
  • 2-Oxoisoleucine
  • 2-Oxoisocaproate
  • 4-Methyl-2-oxopentanoate
  • 4-Methyl-2-oxovaleric acid
  • alpha-Ketoisocaproic acid
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAT1

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for BCAT1 Gene

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

This gene is overexpressed in Pancreas (x6.2).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCAT1 Gene

Protein tissue co-expression partners for BCAT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCAT1 Gene:


SOURCE GeneReport for Unigene cluster for BCAT1 Gene:


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.

Evidence on tissue expression from TISSUES for BCAT1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with BCAT1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BCAT1 Gene

Orthologs for BCAT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCAT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BCAT1 34 33
  • 99.75 (n)
(Canis familiaris)
Mammalia BCAT1 34 33
  • 91.69 (n)
(Bos Taurus)
Mammalia BCAT1 34 33
  • 87.97 (n)
(Ornithorhynchus anatinus)
Mammalia BCAT1 34
  • 84 (a)
(Monodelphis domestica)
Mammalia BCAT1 34
  • 81 (a)
(Mus musculus)
Mammalia Bcat1 16 34 33
  • 80.52 (n)
(Rattus norvegicus)
Mammalia Bcat1 33
  • 76.91 (n)
(Gallus gallus)
Aves BCAT1 34 33
  • 75.28 (n)
(Anolis carolinensis)
Reptilia BCAT1 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bcat1 33
  • 66.23 (n)
Str.15554 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14452 33
(Danio rerio)
Actinopterygii bcat1 34 33
  • 65.68 (n)
wufj66g02 33
fruit fly
(Drosophila melanogaster)
Insecta CG1673 34 35 33
  • 54.41 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000011 33
  • 53.41 (n)
(Caenorhabditis elegans)
Secernentea bcat-1 34 33
  • 57.58 (n)
Y44A6D.5 34 35
  • 42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BAT2 36 34 33
  • 55.23 (n)
BAT1 34
  • 44 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL384W 33
  • 52.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATBCAT-5 33
  • 45.19 (n)
(Oryza sativa)
Liliopsida Os05g0558400 33
  • 46.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7238 34
  • 55 (a)
Species where no ortholog for BCAT1 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for BCAT1: view image

Paralogs for BCAT1 Gene

Paralogs for BCAT1 Gene

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

  • F5H2F2_HUMAN
  • L8E7S9_HUMAN
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 Variation AA Info Type
rs1000008223 -- 24,880,383(-) G/A intron_variant
rs1000009822 -- 24,841,106(-) G/A intron_variant
rs1000059275 -- 24,930,873(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000075373 -- 24,832,202(-) A/G intron_variant
rs1000076945 -- 24,888,688(-) GAAGG/GAAGGGAAGG intron_variant

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

Variant ID Type Subtype PubMed ID
dgv2412n54 CNV gain 21841781
esv2422312 CNV duplication 17116639
esv2667659 CNV deletion 23128226
esv3580195 CNV loss 25503493
esv3628881 CNV loss 21293372
esv3628883 CNV loss 21293372
esv3628884 CNV loss 21293372
nsv469169 CNV gain 19166990
nsv469173 CNV gain 19166990
nsv520878 CNV loss 19592680
nsv525641 CNV gain 19592680
nsv557775 CNV gain 21841781
nsv557794 CNV gain 21841781
nsv646 CNV insertion 18451855
nsv819279 CNV loss 19587683
nsv826283 CNV loss 20364138
nsv832353 CNV gain 17160897

Variation tolerance for BCAT1 Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCAT1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for BCAT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for BCAT1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
small intestine neuroendocrine neoplasm
  • small intestine neuroendocrine tumor
pediatric ependymoma
  • childhood ependymoma
serine deficiency
- elite association - COSMIC cancer census association via MalaCards
Search BCAT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BCAT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCAT1: view

No data available for UniProtKB/Swiss-Prot 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 SM (The Journal of biological chemistry 2005) 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for BCAT1 Gene

Sources for BCAT1 Gene

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