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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 2.6.1.42 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

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

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:
    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

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

P54687

UniProtKB/Swiss-Prot:

BCAT1_HUMAN :
  • P54687
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

CRISPR 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 Targeting and HOMER Transcription for BCAT1 Gene

Localization for BCAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAT1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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

Compounds for BCAT1 Gene

(11) HMDB Compounds for BCAT1 Gene

Compound Synonyms Cas Number PubMed IDs
3-Methyl-2-oxovaleric acid
  • (r)-3-methyl-2-oxopentanoate
1460-34-0
Alpha-ketoisovaleric acid
  • 2-Ketoisovalerate
759-05-7
Famotidine
  • Amfamox
76824-35-6
Gabapentin
  • 1-(Aminomethyl)cyclohexaneacetic acid
60142-96-3
Ketoleucine
  • 2-Ketoisocaproate
816-66-0

(8) Drugbank Compounds for BCAT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Gabapentin
  • Gabapentin GR
60142-96-3 enzyme inhibitor
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
L-Isoleucine
  • (2S,3S)-2-Amino-3-methylpentanoic acid
73-32-5 target
L-Leucine
  • (2S)-2-Amino-4-methylpentanoic acid
61-90-5 target
L-Valine
  • (2S)-2-Amino-3-methylbutanoic acid
72-18-4 target

(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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

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: - - - - - - - - -
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 for BCAT1 Gene

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

This gene is overexpressed in Pancreas (6.2).

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

P54687-BCAT1_HUMAN
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

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
chimpanzee
(Pan troglodytes)
Mammalia BCAT1 35
  • 99.75 (n)
  • 99.75 (a)
BCAT1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCAT1 35
  • 87.97 (n)
  • 90.13 (a)
BCAT1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCAT1 35
  • 91.69 (n)
  • 93.25 (a)
BCAT1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcat1 35
  • 80.52 (n)
  • 84.13 (a)
Bcat1 16
Bcat1 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCAT1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCAT1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcat1 35
  • 76.91 (n)
  • 76.32 (a)
chicken
(Gallus gallus)
Aves BCAT1 35
  • 75.28 (n)
  • 77.02 (a)
BCAT1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAT1 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14452 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bcat1 35
  • 66.23 (n)
  • 71.05 (a)
Str.15554 35
zebrafish
(Danio rerio)
Actinopterygii bcat1 35
  • 65.68 (n)
  • 71.35 (a)
bcat1 36
  • 69 (a)
OneToOne
wufj66g02 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000011 35
  • 53.41 (n)
  • 52.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1673 35
  • 54.41 (n)
  • 52.32 (a)
CG1673 36
  • 44 (a)
OneToMany
CG1673 37
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea bcat-1 35
  • 57.58 (n)
  • 54.55 (a)
bcat-1 36
  • 46 (a)
ManyToMany
Y44A6D.5 36
  • 42 (a)
ManyToMany
Y44A6D.5 37
  • 44 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL384W 35
  • 52.19 (n)
  • 46.86 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BAT1 36
  • 44 (a)
ManyToMany
BAT2 35
  • 55.23 (n)
  • 51.16 (a)
BAT2 36
  • 47 (a)
ManyToMany
BAT2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ATBCAT-5 35
  • 45.19 (n)
  • 37.39 (a)
rice
(Oryza sativa)
Liliopsida Os05g0558400 35
  • 46.42 (n)
  • 37.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7238 36
  • 55 (a)
OneToMany
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

ENSEMBL:
Gene Tree for BCAT1 (if available)
TreeFam:
Gene Tree for BCAT1 (if available)

Paralogs for BCAT1 Gene

Paralogs for BCAT1 Gene

Selected 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
rs11486 -- 24,811,633(-) AGCTC(A/G)CTAAA utr-variant-3-prime
rs15643 -- 24,815,071(+) TAATA(A/G)ATGAC utr-variant-3-prime
rs587649 -- 24,915,013(-) ctttg(G/T)gggta intron-variant
rs593165 -- 24,946,473(-) actta(A/G)aaact intron-variant
rs596765 -- 24,911,714(+) CCCCT(C/G)GTCCT 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
BCAT1
Human Gene Mutation Database (HGMD)
BCAT1

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. (1) Diseases for BCAT1 Gene including...

Search for BCAT1 Gene in MalaCards »

Relevant External Links for BCAT1

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

No data available for UniProtKB/Swiss-Prot 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PMID: 19260141) Zemunik T. … Rudan I. (Croat. Med. J. 2009) 3 48
  5. 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

Products for BCAT1 Gene

Sources for BCAT1 Gene

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