BCAT1 Gene (Protein Coding)

Branched Chain Amino Acid Transaminase 1

GC12M024732
GIFtS:
47
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-... See more...

Aliases for BCAT1 Gene

Aliases for BCAT1 Gene

  • Branched Chain Amino Acid Transaminase 1 2 3 5
  • Branched-Chain-Amino-Acid Aminotransferase, Cytosolic 3 4
  • Branched Chain Aminotransferase 1, Cytosolic 2 3
  • EC 2.6.1.42 4 51
  • ECA39 3 4
  • BCT1 3 4
  • Branched Chain Amino-Acid Transaminase 1, Cytosolic 3
  • Placental Protein 18 3
  • Protein ECA39 4
  • PNAS121 3
  • BCAT(C) 4
  • MECA39 3
  • BCATC 3
  • BCAT1 5
  • BCATc 2
  • 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 Hypervalinemia And Hyperleucine-Isoleucinemia. Among its related pathways are Sulfur amino acid metabolism and Valine, leucine and isoleucine degradation. 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 Summary 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 , Rfam classification and piRNA Summary for BCAT1 Gene

Genomics for BCAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BCAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 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 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 259 +0.8 781 9.6 TBP ZBTB10 SP1 BCL11A MXD4 CEBPA MNT IKZF1 SMAD5 ETS1 BCAT1 ENSG00000255921 lnc-CASC1-4 C12orf77 KRAS DNAI7 HSALNG0089884 lnc-BCAT1-6 SOX5
GH12J024899 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 265.6 +46.6 46572 5.4 REST IRF4 MAFF GABPA ZNF146 ZNF316 FOSL1 CBFB ATF1 BATF BCAT1 ENSG00000278969 TDGP1 KRAS piR-53338-028 SOX5
GH12J024931 Enhancer 1.2 Ensembl ENCODE dbSUPER 21.1 +17.2 17187 4.6 TBP BCL11A IKZF1 SMAD5 MBD2 BHLHE40 ZIC2 ZNF395 REST TRIM22 BCAT1 TDGP1 HE856109 piR-56759-107 SOX5
GH12J024920 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 16 +26.9 26900 3.2 CEBPA ZNF395 JUND FOSL1 BATF ZNF589 CEBPG ATF4 JUNB ZNF584 BCAT1 KRAS DAD1P1 piR-43583-099 SOX5
GH12J024937 Enhancer 0.9 Ensembl dbSUPER 16.4 +11.0 11000 1 FEZF1 MNT IKZF1 ZNF395 VEZF1 ZEB2 EBF1 ZFP91 FOSL1 SMARCA4 BCAT1 HE856109 HSALNG0089884 SOX5
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCAT1

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

Genomic Locations for BCAT1 Gene

Latest Assembly
chr12:24,810,024-24,949,101
(GRCh38/hg38)
Size:
139,078 bases
Orientation:
Minus strand

Previous Assembly
chr12:24,962,958-25,102,035
(GRCh37/hg19 by Entrez Gene)
Size:
139,078 bases
Orientation:
Minus strand

chr12:24,964,295-25,102,393
(GRCh37/hg19 by Ensembl)
Size:
138,099 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 Structure • Gene Density

RefSeq DNA sequence for BCAT1 Gene

Proteins for BCAT1 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for BCAT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for BCAT1 Gene

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

Post-translational modifications for BCAT1 Gene

  • Ubiquitination at Lys305 and Lys368
  • Modification sites at PhosphoSitePlus

Other Protein References for BCAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for BCAT1
  • Santa Cruz Biotechnology (SCBT) Antibodies for BCAT1

Domains & Families for BCAT1 Gene

Gene Families for BCAT1 Gene

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

Protein Domains for BCAT1 Gene

InterPro:
Blocks:
  • Aminotransferase, class IV
ProtoNet:

Suggested Antigen Peptide Sequences for BCAT1 Gene

GenScript: Design optimal peptide antigens:
  • Branched-chain-amino-acid aminotransferase (B3KY27_HUMAN)
  • Branched-chain-amino-acid aminotransferase (B7Z5L0_HUMAN)
  • Protein ECA39 (BCAT1_HUMAN)
  • Branched-chain-amino-acid aminotransferase (F5H5E4_HUMAN)

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

Function for BCAT1 Gene

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  6. Cell Lines for research

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:
Reaction=2-oxoglutarate + L-leucine = 4-methyl-2-oxopentanoate + L-glutamate; Xref=Rhea:RHEA:18321, ChEBI:CHEBI:16810, ChEBI:CHEBI:17865, ChEBI:CHEBI:29985, ChEBI:CHEBI:57427; EC=2.6.1.42;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate; Xref=Rhea:RHEA:24801, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:35146, ChEBI:CHEBI:58045; EC=2.6.1.42;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-valine = 3-methyl-2-oxobutanoate + L-glutamate; Xref=Rhea:RHEA:24813, ChEBI:CHEBI:11851, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57762; EC=2.6.1.42;.
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 21873635
GO:0005515 protein binding IPI --
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity 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 Models for research

  • Taconic Biosciences Mouse Models for BCAT1

miRNA for BCAT1 Gene

miRTarBase miRNAs that target BCAT1

Inhibitory RNAs for research

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

Clone products for research

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 3
extracellular 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 21873635
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:0008652 cellular amino acid biosynthetic process IEA --
GO:0009081 branched-chain amino acid metabolic process IEA --
GO:0009082 branched-chain amino acid biosynthetic process TAS,IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
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

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  1. Drug products for research

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Valine Approved Nutra Target, Enzyme, substrate 41
Gabapentin Approved, Investigational Pharma Enzyme, inhibitor GABA enhancer 436
Glutamic acid Approved Nutra Target 320
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
Famotidine Approved Pharma Histamine H2-receptor antagonist 97

(2) Additional Compounds for BCAT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BCAT1: view

Transcripts for BCAT1 Gene

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mRNA/cDNA for BCAT1 Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Clone products for research

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

Expression for BCAT1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCAT1 Gene

mRNA expression in normal human tissues for BCAT1 Gene
mRNA expression by BioGPS for BCAT1 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 Burkitt's lymphoma.

Evidence on tissue expression from TISSUES for BCAT1 Gene

  • Nervous system(4.7)
  • Muscle(2.2)
  • Pancreas(2.2)
  • Blood(2.1)
  • Lung(2.1)
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
Chimpanzee
(Pan troglodytes)
 Mammalia BCAT1 30 31
  • 99.75 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BCAT1 30 31
  • 91.69 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BCAT1 30 31
  • 87.97 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BCAT1 31
  • 84 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BCAT1 31
  • 81 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bcat1 30 17 31
  • 80.52 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bcat1 30
  • 76.91 (n)
Chicken
(Gallus gallus)
 Aves BCAT1 30 31
  • 75.28 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BCAT1 31
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia bcat1 30
  • 66.23 (n)
Str.15554 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14452 30
Zebrafish
(Danio rerio)
 Actinopterygii bcat1 30 31
  • 65.68 (n)
 OneToOne
wufj66g02 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG1673 30 31 32
  • 54.41 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000011 30
  • 53.41 (n)
Worm
(Caenorhabditis elegans)
 Secernentea bcat-1 30 31
  • 57.58 (n)
 ManyToMany
Y44A6D.5 31 32
  • 42 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BAT2 30 31 33
  • 55.23 (n)
 ManyToMany
BAT1 31
  • 44 (a)
 ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADL384W 30
  • 52.19 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons ATBCAT-5 30
  • 45.19 (n)
Rice
(Oryza sativa)
 Liliopsida Os05g0558400 30
  • 46.42 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7238 31
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
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:

  • BCAT1_HUMAN
  • F5H2F2_HUMAN
  • L8E7S9_HUMAN
genes like me logo Genes that share paralogs with BCAT1: view

Variants for BCAT1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCAT1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs17374606 Benign: not provided 24,901,853(-) G/A
NM_005504.7(BCAT1):c.39C>T (p.Thr13=) 		SYNONYMOUS_VARIANT,INTRON
rs185686698 Likely Benign: not provided 24,901,835(-) T/C
NM_005504.7(BCAT1):c.57A>G (p.Lys19=) 		SYNONYMOUS_VARIANT,INTRON
rs762733850 Likely Benign: not provided 24,832,804(-) C/T
NM_005504.7(BCAT1):c.963G>A (p.Glu321=) 		SYNONYMOUS
rs1057204 - p.Gly330Ser
rs17374285 - p.Thr59Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCAT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
BCAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAT1

SNP Genotyping and Copy Number Assays for research

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

Disorders for BCAT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BCAT1 Gene - From: COP and GCD

- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. 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 41
  4. 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 41
  5. 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 41

ExternalLinks

View latest publications for BCAT1 gene in Mastermind

Products for BCAT1 Gene

Sources for BCAT1 Gene