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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
  • EC 2.6.1.42 4 61
  • 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
  • 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 Pediatric Ependymoma. Among its related pathways are Validated targets of C-MYC transcriptional activation and Valine, leucine and isoleucine degradation. 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.

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

Regulatory Elements for BCAT1 Gene

Enhancers for BCAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G024899 1.5 FANTOM5 ENCODE dbSUPER 15.6 +46.9 46931 5.4 PKNOX1 ATF1 SIN3A ZNF766 CBX5 GATA2 FOS ZNF202 JUNB REST BCAT1 KRAS ENSG00000278969 DAD1P1
GH12G024920 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +27.4 27355 2.5 JUN ZSCAN4 ETV1 ZNF175 CEBPG FOSL1 ARID3A ZNF584 RELB FOS BCAT1 KRAS DAD1P1 ENSG00000255921
GH12G024898 1.2 Ensembl ENCODE dbSUPER 16.5 +50.9 50916 0.5 USF1 ZNF362 PKNOX1 NR2F1 BHLHE40 DPF2 GABPA RAD51 ATF3 POLR2A BCAT1 LRMP ENSG00000278969 LOC105369699
GH12G024933 0.8 dbSUPER 21.1 +15.6 15567 1.6 BRD4 TBP HDGF ATF1 NFRKB RELA POLR2A CREM KDM4B RNF2 BCAT1 DAD1P1 ENSG00000255921
GH12G024943 2 FANTOM5 Ensembl ENCODE dbSUPER 8 +2.1 2068 7.7 CREB3L1 ZFP64 DMAP1 YY1 SP3 NFYC TBX21 MEF2D ZNF610 GLIS1 LRMP BCAT1 CASC1 ENSG00000255921 DAD1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCAT1 on UCSC Golden Path with GeneCards custom track

Promoters for BCAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000049816 1359 2601 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 MXD4 REST TBX21

Genomic Location for BCAT1 Gene

Chromosome:
12
Start:
24,810,022 bp from pter
End:
24,949,459 bp from pter
Size:
139,438 bases
Orientation:
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:
    P54687-BCAT1_HUMAN
    Recommended name:
    Branched-chain-amino-acid aminotransferase, cytosolic
    Protein Accession:
    P54687
    Secondary Accessions:
    • B3KY27
    • B7Z2M5
    • B7Z5L0
    • F5H5E4
    • Q68DQ7
    • Q96MY9

    Protein attributes for BCAT1 Gene

    Size:
    386 amino acids
    Molecular mass:
    42966 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for BCAT1 Gene

Selected DME Specific Peptides for BCAT1 Gene

P54687:
  • EMFGSGTACVV
  • EWVPYSTSASLYIRPTFIG
  • GDCKMGGNY
  • ELATPPLDGIILPGV
  • ILPGVTR
  • TEVGTMN
  • PVSLWANPK

Post-translational modifications for BCAT1 Gene

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BCAT1 (BCAT1)
  • Cloud-Clone Corp. Antibodies for BCAT1
  • Santa Cruz Biotechnology (SCBT) Antibodies for BCAT1

Domains & Families for BCAT1 Gene

Protein Domains for BCAT1 Gene

Graphical View of Domain Structure for InterPro Entry

P54687

UniProtKB/Swiss-Prot:

BCAT1_HUMAN :
  • Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.
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 IEA --
GO:0004084 branched-chain-amino-acid transaminase activity IBA,TAS --
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

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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

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

(12) 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 303
L-Isoleucine Approved Nutra Target 0
L-Leucine Approved Nutra Target 0
L-Valine Approved Nutra Target, Enzyme, substrate 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 61

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Methyl-2-oxovaleric acid
  • (3R)-3-Methyl-2-oxopentanoate
  • (3R)-3-Methyl-2-oxopentanoic acid
  • (R)-3-methyl-2-oxopentanoate
  • (R)-3-methyl-2-oxopentanoic acid
  • (S)-3-methyl-2-oxopentanoate
1460-34-0
Ketoleucine
  • 2-Keto-4-Methylvalerate
  • 2-Keto-4-Methylvaleric acid
  • 2-Ketoisocaproate
  • 2-Ketoisocaproic acid
  • 2-Oxo-4-methylpentanoate
816-66-0
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
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

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: - - - - - - - - -
SP3:
SP4: - - - - - -
SP5: - - - -
SP6: - - - - - -
SP7:
SP8: -

Relevant External Links for BCAT1 Gene

GeneLoc Exon Structure for
BCAT1
ECgene alternative splicing isoforms for
BCAT1

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, PaxDb, MaxQB, and MOPED for BCAT1 Gene



Protein tissue co-expression partners for BCAT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCAT1 Gene:

BCAT1

SOURCE GeneReport for Unigene cluster for BCAT1 Gene:

Hs.438993

mRNA Expression by UniProt/SwissProt for BCAT1 Gene:

P54687-BCAT1_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia BCAT1 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia BCAT1 34 35
  • 91.69 (n)
cow
(Bos Taurus)
Mammalia BCAT1 34 35
  • 87.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCAT1 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCAT1 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcat1 34 16 35
  • 80.52 (n)
rat
(Rattus norvegicus)
Mammalia Bcat1 34
  • 76.91 (n)
chicken
(Gallus gallus)
Aves BCAT1 34 35
  • 75.28 (n)
lizard
(Anolis carolinensis)
Reptilia BCAT1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcat1 34
  • 66.23 (n)
Str.15554 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.14452 34
zebrafish
(Danio rerio)
Actinopterygii bcat1 34 35
  • 65.68 (n)
wufj66g02 34
fruit fly
(Drosophila melanogaster)
Insecta CG1673 36 34 35
  • 54.41 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000011 34
  • 53.41 (n)
worm
(Caenorhabditis elegans)
Secernentea bcat-1 34 35
  • 57.58 (n)
Y44A6D.5 36 35
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BAT2 34 35 37
  • 55.23 (n)
BAT1 35
  • 44 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL384W 34
  • 52.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATBCAT-5 34
  • 45.19 (n)
rice
(Oryza sativa)
Liliopsida Os05g0558400 34
  • 46.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7238 35
  • 55 (a)
OneToMany
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

ENSEMBL:
Gene Tree for BCAT1 (if available)
TreeFam:
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
rs1000008223 -- 24,880,383(+) ACCCC(A/G)GAGGT intron-variant
rs1000009822 -- 24,841,106(+) ACTCA(A/G)GATAT intron-variant
rs1000059275 -- 24,930,873(+) CGCAC(C/T)GAAGC intron-variant
rs1000075373 -- 24,832,202(+) AGAGA(A/G)GAGTA intron-variant
rs1000076945 -- 24,888,687(+) CTCCA(-/GAAGG)GAAGG 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)

Relevant External Links for BCAT1 Gene

Human Gene Mutation Database (HGMD)
BCAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAT1

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

Disorders for BCAT1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for BCAT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hyperleucine-isoleucinemia
pediatric ependymoma
  • childhood ependymoma
serine deficiency
respiratory system benign neoplasm
maple syrup urine disease, type ii
  • dihydrolipoamide dehydrogenase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search BCAT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BCAT1

Genetic Association Database (GAD)
BCAT1
Human Genome Epidemiology (HuGE) Navigator
BCAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCAT1
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 S.M. (J. Biol. Chem. 2005) 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. 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 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for BCAT1 Gene

Sources for BCAT1 Gene

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