Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



BCAT1 Gene

protein-coding   GIFtS: 68
GCID: GC12M024868

Branched Chain Amino-Acid Transaminase 1, Cytosolic

(Previous names: branched chain aminotransferase 1, cytosolic)
(Previous symbol: BCT1)
  See BCAT1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Branched Chain Amino-Acid Transaminase 1, Cytosolic1 2     PNAS1212
BCT11 2 3 5     PP182
Branched Chain Aminotransferase 1, Cytosolic1 2     Branched-Chain-Amino-Acid Aminotransferase, Cytosolic2
ECA392 3     Placental Protein 182
EC 2.6.1.423 8     BCAT(c)3
BCATC2     Protein ECA393
MECA392     

External Ids:    HGNC: 9761   Entrez Gene: 5862   Ensembl: ENSG000000609827   OMIM: 1135205   UniProtKB: P546873   

Export aliases for BCAT1 gene to outside databases

Previous GC identifers: GC12M025327 GC12M024982 GC12M024861 GC12M024855 GC12M024732


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 hyperleucinemia-isoleucinemia or hypervalinemia, and hyperleucine-isoleucinemia. GO annotations related to this gene include L-valine transaminase activity and identical protein binding. An important paralog of this gene is BCAT2.

UniProtKB/Swiss-Prot: BCAT1_HUMAN, P54687
Function: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine,
isoleucine, and valine




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCAT1 gene promoter:
         AML1a   IRF-7A   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): BCAT1 promoter sequence
   Search Chromatin IP Primers for BCAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCAT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12.1   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M024868:  view genomic region     (about GC identifiers)

Start:
24,962,958 bp from pter      End:
25,102,393 bp from pter
Size:
139,436 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: BCAT1_HUMAN, P54687 (See protein sequence)
Recommended Name: Branched-chain-amino-acid aminotransferase, cytosolic  
Size: 386 amino acids; 42966 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer (By similarity)
4 PDB 3D structures from and Proteopedia for BCAT1:
2ABJ (3D)        2COG (3D)        2COI (3D)        2COJ (3D)    
Secondary accessions: B3KY27 B7Z2M5 B7Z5L0 F5H5E4 Q68DQ7 Q96MY9
Alternative splicing: 5 isoforms:  P54687-1   P54687-2   P54687-3   P54687-4   P54687-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BCAT1: NX_P54687

Explore proteomics data for BCAT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys305, Lys368
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BCAT1 (P54687) (see all 7)
     ILPGVTR  TEVGTMN  PVSLWANPK  GDCKMGGNY 


    See BCAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001171562.1  NP_001171563.1  NP_001171564.1  NP_001171565.1  NP_005495.2  

    ENSEMBL proteins: 
     ENSP00000261192   ENSP00000440817   ENSP00000339805   ENSP00000443459   ENSP00000440827  
     ENSP00000438593  
    Reactome Protein details: P54687

    BCAT1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for BCAT1
    OriGene Protein Over-expression Lysate for BCAT1
    OriGene MassSpec for BCAT1
    OriGene Custom Protein Services for BCAT1
    GenScript Custom Purified and Recombinant Proteins Services for BCAT1
    Novus Biologicals BCAT1 Proteins
    Novus Biologicals BCAT1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for BCAT1
    Cloud-Clone Corp. Proteins for BCAT1

     
    Search eBioscience for Proteins for BCAT1 

     
    antibodies-online proteins for BCAT1 (8 products) 

     
    antibodies-online peptides for BCAT1

    BCAT1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for BCAT1 
    OriGene Antibodies for BCAT1
    OriGene Custom Antibody Services for BCAT1
    Novus Biologicals BCAT1 Antibodies
    Abcam antibodies for BCAT1
    Cloud-Clone Corp. Antibodies for BCAT1
    ThermoFisher Antibodies for BCAT1
    antibodies-online antibodies for BCAT1 (42 products) 

    BCAT1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BCAT1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BCAT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BCAT1
    Cloud-Clone Corp. CLIAs for BCAT1
    Search eBioscience for ELISAs for BCAT1 
    antibodies-online kits for BCAT1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    3 InterPro protein domains:
     IPR018300 Aminotrans_IV_CS
     IPR001544 Aminotrans_IV
     IPR005786 B_amino_transII

    Graphical View of Domain Structure for InterPro Entry P54687

    ProtoNet protein and cluster: P54687

    1 Blocks protein domain: IPB001544 Aminotransferase

    UniProtKB/Swiss-Prot: BCAT1_HUMAN, P54687
    Similarity: Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family


    Find genes that share domains with BCAT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BCAT1_HUMAN, P54687
    Function: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine,
    isoleucine, and valine
    Catalytic activity: L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamate
    Catalytic activity: L-isoleucine + 2-oxoglutarate = (S)-3-methyl-2-oxopentanoate + L-glutamate
    Catalytic activity: L-valine + 2-oxoglutarate = 3-methyl-2-oxobutanoate + L-glutamate

         Genatlas biochemistry entry for BCAT1:
    branched chain aminotransferase 1,cytosolic and mitochondrial

         Enzyme Number (IUBMB): EC 2.6.1.421 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004084branched-chain-amino-acid transaminase activity EXP--
    GO:0042802identical protein binding IEA--
    GO:0052654L-leucine transaminase activity IEA--
    GO:0052655L-valine transaminase activity IEA--
         
    Find genes that share ontologies with BCAT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BCAT1:
     Decreased Hepatitis C virus re 

         1 MGI phenotypic allele for Bcat1 (no phenotypes)

    Find genes that share phenotypes with BCAT1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BCAT1

    miRNA
    Products:
        
    miRTarBase miRNAs that target BCAT1:
    hsa-mir-155-5p (MIRT004088), hsa-mir-769-5p (MIRT039195), hsa-mir-32-5p (MIRT028360), hsa-mir-21-5p (MIRT030880), hsa-let-7a-5p (MIRT052384), hsa-let-7b-5p (MIRT052293)

    Block miRNA regulation of human, mouse, rat BCAT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCAT1 (see all 133):
    hsa-miR-579 hsa-miR-576-3p hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-519a hsa-miR-4275 hsa-miR-4326 hsa-miR-130b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BCAT1
    Predesigned siRNA for gene silencing in human, mouse, rat BCAT1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BCAT1

    Clone
    Products:
         
    OriGene clones in human, mouse for BCAT1 (see all 25)
    OriGene ORF clones in mouse, rat for BCAT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): BCAT1 (NM_005504)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCAT1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BCAT1
    Browse ESI BIO Cell Lines and PureStem Progenitors for BCAT1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCAT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    BCAT1_HUMAN, P54687: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with BCAT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for BCAT1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    valine degradation I0.00
    isoleucine degradation I0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Biosynthesis of amino acids0.38
    2-Oxocarboxylic acid metabolism0.00
    Valine, leucine and isoleucine biosynthesis0.00
    4Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    Metabolism of amino acids and derivatives
    5Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation


    Find genes that share SuperPaths with BCAT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for BCAT1
        Glucose / Energy Metabolism

    4 BioSystems Pathways for BCAT1
        isoleucine degradation I
    leucine degradation I
    valine degradation I
    Validated targets of C-MYC transcriptional activation

    1 Reactome Pathway for BCAT1
        Branched-chain amino acid catabolism


    Selected Kegg Pathways  (Kegg details for BCAT1) (see all 6):
        Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine biosynthesis
    Pantothenate and CoA biosynthesis
    Metabolic pathways
    2-Oxocarboxylic acid metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BCAT1: 
              Amino Acid Metabolism II in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BCAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BCAT1 (P546872, 3 ENSP000002611924) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD5Q997172, 3MINT-61838 I2D: score=3 
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    HSPD1P108093I2D: score=3 
    PIN1Q135263I2D: score=3 
    AADATQ8N5Z03I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS8692959
    GO:0008152metabolic process ----
    GO:0008283cell proliferation TAS6933702
    GO:0009081branched-chain amino acid metabolic process ----
    GO:0009082branched-chain amino acid biosynthetic process IEA--

    Find genes that share ontologies with BCAT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BCAT1

    Selected HMDB Compounds for BCAT1 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Methyl-2-oxovaleric acid(r)-3-methyl-2-oxopentanoate (see all 39)1460-34-0--
    Alpha-ketoisovaleric acid2-Ketoisovalerate (see all 45)759-05-7--
    FamotidineAmfamox (see all 83)76824-35-6--
    Gabapentin1-(Aminomethyl)cyclohexaneacetic acid (see all 9)60142-96-3--
    Ketoleucine2-Ketoisocaproate (see all 35)816-66-0--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Isoleucine(2S,3S)-2-Amino-3-methylpentanoate (see all 33)73-32-5--
    L-Leucine(2S)-2-Amino-4-methylpentanoate (see all 16)61-90-5--
    L-Valine(2S)-2-Amino-3-methylbutanoate (see all 27)72-18-4--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--

    7 DrugBank Compounds for BCAT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Valine(2S)-2-Amino-3-methylbutanoic acid (see all 10)72-18-4target--17554170 17077963 15667998
    enzymesubstrate17554170 17077963 15667998 17554170 17077963 15667998
    L-Isoleucine(2S,3S)-2-Amino-3-methylpentanoic acid (see all 11)73-32-5target--14962140 17554170 12147502 12667063 15667998
    L-Leucine(2S)-2-Amino-4-methylpentanoic acid (see all 16)61-90-5target--17554170 17077963
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 17016423
    GabapentinGabapentin GR (see all 6)60142-96-3enzymeinhibitor16141215
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17559390
    N'-(5-CHLOROBENZOFURAN-2-CARBONYL)-2-(TRIFLUOROMETHYL)BENZENESULFONOHYDRAZIDE-- --target--10592235

    5 Novoseek inferred chemical compound relationships for BCAT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    isoleucine 66.8 2 12234469 (1), 16141215 (1)
    leucine 56.5 4 12234469 (2), 16141215 (1)
    alpha-ketoglutarate 54.6 2 12234469 (1), 16141215 (1)
    valine 54.3 1 16141215 (1)
    glutamate 24.9 5 17348860 (1), 12234469 (1), 16141215 (1)



    Find genes that share compounds with BCAT1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for BCAT1 gene (5 alternative transcripts): 
    NM_001178091.1  NM_001178092.1  NM_001178093.1  NM_001178094.1  NM_005504.6  

    Unigene Cluster for BCAT1:

    Branched chain amino-acid transaminase 1, cytosolic
    Hs.438993  [show with all ESTs]
    Unigene Representative Sequence: NM_005504
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261192(uc001rgc.3 uc010six.2 uc001rgd.4 uc010siy.2 uc001rge.4)
    ENST00000538118 ENST00000342945 ENST00000539282 ENST00000543099 ENST00000539780
    ENST00000544418 ENST00000546285 ENST00000355164
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BCAT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCAT1 (see all 133):
    hsa-miR-579 hsa-miR-576-3p hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-519a hsa-miR-4275 hsa-miR-4326 hsa-miR-130b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BCAT1
    Predesigned siRNA for gene silencing in human, mouse, rat BCAT1
    Clone
    Products:
         
    OriGene clones in human, mouse for BCAT1 (see all 25)
    OriGene ORF clones in mouse, rat for BCAT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): BCAT1 (NM_005504)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCAT1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for BCAT1
    OriGene qSTAR qPCR primer pairs in human, mouse for BCAT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCAT1
      QuantiTect SYBR Green Assays in human, mouse, rat BCAT1
      QuantiFast Probe-based Assays in human, mouse, rat BCAT1

    Additional mRNA sequence: 

    AF277179.1 AK025615.1 AK056255.1 AK128527.1 AK294879.1 AK299088.1 BC026006.1 CR749308.1 
    U21551.1 

    19 DOTS entries:

    DT.97859238  DT.309952  DT.121188874  DT.100029015  DT.100029013  DT.407767  DT.444412  DT.121188867 
    DT.121188886  DT.433950  DT.40198877  DT.40294581  DT.100016906  DT.100677289  DT.121188851  DT.121188875 
    DT.100677667  DT.65286612  DT.91760745 

    Selected AceView cDNA sequences (see all 354):

    AL708310 AA814795 BQ223594 AA831198 AI357254 BU623034 AW089917 BQ573974 
    BU730066 AW590423 BF059595 AI127534 AI336166 BF057802 AI985809 CA424461 
    AA633988 BM472661 BE550357 BM716112 BM470094 AI671821 BQ775714 NM_005504 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BCAT1 (see all 8)    About this scheme

    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:                                -     -     -     -                                                                                 


    ECgene alternative splicing isoforms for BCAT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    BCAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATAATTGT
    BCAT1 Expression
    About this image


    BCAT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
             Umbilical cord blood-derived mesenchymal stem cells
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
    BCAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCAT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438993

    UniProtKB/Swiss-Prot: BCAT1_HUMAN, P54687
    Tissue specificity: During embryogenesis, expressed in the brain and kidney. Overexpressed in MYC-induced tumors
    such as Burkitt's lymphoma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BCAT1: 
              Amino Acid Metabolism II in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for BCAT1
    OriGene qSTAR qPCR primer pairs in human, mouse for BCAT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCAT1
    QuantiTect SYBR Green Assays in human, mouse, rat BCAT1
    QuantiFast Probe-based Assays in human, mouse, rat BCAT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCAT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BCAT1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcat11 , 5 branched chain aminotransferase 1, cytosolic1, 5 80.52(n)1
    84.13(a)1
      6 (77.27 cM)5
    120351  NM_001024468.31  NP_001019639.11 
     1449938355 
    chicken
    (Gallus gallus)
    Aves BCAT11 branched chain amino-acid transaminase 1, cytosolic 75.28(n)
    77.02(a)
      418193  XM_004937974.1  XP_004938031.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCAT16
    branched chain amino-acid transaminase 1, cytosoli...
    72(a)
    1 ↔ 1
    5(8145681-8206174)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144522 Xenopus laevis transcribed sequence with weak similarity more 70.73(n)    BX843092.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj66g022 wufj66g02 73.61(n)   337412  BC059513.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG16731 , 3 branched-chain amino acid
    aminotransferase3
    CG16731
    55(a)3
    54.41(n)1
    52.32(a)1
      11F33
    322971  NM_132656.11  NP_572884.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y44A6D.53
    bcat-11
    Aminotransferase class IV3
    bcat-11
    44(a)3
    57.58(n)1
    54.55(a)1
      V(20793381-20795099)3
    1814231  NM_077743.41  NP_510144.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BAT2(YJR148W)4
    BAT21
    Cytosolic branched-chain amino acid (BCAA) aminotransferase, more4
    BAT21
    55.23(n)1
    51.16(a)1
      10(705744-706874)4
    8536131, 4  NP_012682.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATBCAT-51 ATBCAT-5 45.19(n)
    37.39(a)
      836707  NM_125975.7  NP_201379.2 
    rice
    (Oryza sativa)
    Liliopsida Os05g05584001 Os05g0558400 46.42(n)
    37.46(a)
      4339583  NM_001062830.1  NP_001056295.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for BCAT1 gene
    BCAT22  
    1 SIMAP similar gene for BCAT1 using alignment to 3 protein entries:     BCAT1_HUMAN (see all proteins):
    BCAT2

    Find genes that share paralogs with BCAT1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for BCAT1 (see all 2912)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1159356781,2
    C,Funtested124885445(+) TTCCAA/C/GTCCAC 5 -- int11WA 118
    rs79696121,2
    C,A--24747960(+) tgtgtG/Atatat 5 -- int12Minor allele frequency- A:0.00NA 4
    rs1462722081,2
    C--24748285(+) GCCTG-/TTTTTTTT 5 -- int10--------
    rs794805451,2
    C--24748294(+) TTTTTG/TTTTTT 5 -- int10--------
    rs796121621,2
    C--24748297(+) TTTTTG/TTTTTA 5 -- int10--------
    rs105614331,2
    C--24750139(+) AATTT-/TTATTAG 5 -- int10--------
    rs1408068961,2
    C--24750139(+) AGAAA-/TTTTTAT 5 -- int10--------
    rs2004957801,2
    --24750143(+) ATTTT-/TATTAGC 5 -- int10--------
    rs347615311,2
    C--24755166(+) AGTTAT/-TTTTT 5 -- int11Minor allele frequency- -:0.50NA 2
    rs1119850171,2
    C--24821100(+) GAATTT/-GGAAT 5 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for BCAT1 (24962958 - 25102393 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BCAT1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667659CNV Deletion23128226
    esv2422312CNV Duplication17116639
    nsv646CNV Insertion18451855
    nsv819279CNV Loss19587683
    nsv826283CNV Loss20364138
    nsv520878CNV Loss19592680
    nsv469169CNV Gain19166990
    nsv469173CNV Gain19166990
    nsv832353CNV Gain17160897
    nsv525641CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BCAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for BCAT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 113520    OMIM disorders: --

    2 diseases for BCAT1:    
    About MalaCards
    hyperleucinemia-isoleucinemia or hypervalinemia    hyperleucine-isoleucinemia


    Find genes that share disorders with BCAT1           About GenesLikeMe

    Genetic Association Database (GAD): BCAT1
    Human Genome Epidemiology (HuGE) Navigator: BCAT1 (11 documents)

    Export disorders for BCAT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for BCAT1 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with BCAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural determinants for branched-chain aminotransferase isozyme- specific inhibition by the anticonvulsant drug gabapentin. (PubMed id 16141215)1, 2, 7, 9 Goto M....Hutson S.M. (J. Biol. Chem. 2005)
    2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PubMed id 19260141)1, 4 Zemunik T....Rudan I. (Croat. Med. J. 2009)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm). (PubMed id 9165094)1, 3 Bledsoe R.K.... Hutson S.M. (Biochim. Biophys. Acta 1997)
    9. ECA39, a conserved gene regulated by c-Myc in mice, is involved in G1/S cell cycle regulation in yeast. (PubMed id 8692959)1, 2 Schuldiner O....Benvenisty N. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    10. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. (PubMed id 23400010)1 Del-Aguila J.L....Boerwinkle E. (Pharmacogenomics J. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 586 HGNC: 976 AceView: BCAT1 Ensembl:ENSG00000060982 euGenes: HUgn586
    ECgene: BCAT1 Kegg: 586 H-InvDB: BCAT1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for BCAT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BCAT1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for BCAT1 gene:
    Search GeneIP for patents involving BCAT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for BCAT1   OriGene RNAi products in human, mouse, rat for BCAT1  
     OriGene qPCR primer pairs and template standards for BCAT1   OriGene Protein Over-expression Lysate for BCAT1  
     OriGene MassSpec for BCAT1   OriGene clones in human, mouse for BCAT1  
     OriGene qSTAR qPCR primer pairs in human, mouse for BCAT1   OriGene Purified Protein for BCAT1  
     OriGene ORF clones in mouse, rat for BCAT1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for BCAT1   OriGene Custom Protein Services for BCAT1  

     
     
     Block miRNA regulation of human, mouse, rat BCAT1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing BCAT1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCAT1 Predesigned siRNA for gene silencing in human, mouse, rat BCAT1
     QuantiFast Probe-based Assays in human, mouse, rat BCAT1 QuantiTect SYBR Green Assays in human, mouse, rat BCAT1
     PCR Arrays including human, mouse, rat BCAT1 Search Chromatin IP Primers for BCAT1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCAT1  GeneGlobe Interaction Network for BCAT1
     Regulatory tfbs in BCAT1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for BCAT1 GenScript cDNA clones with any tag delivered in your preferred vector for BCAT1
     GenScript Custom Assay Services for BCAT1 GenScript Custom overexpressing Cell Line Services for BCAT1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for BCAT1 

     Search Tocris compounds for BCAT1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     BCAT1 antibodies
     BCAT1 proteins
     BCAT1 lysates
     Antibodies for BCAT1
     See all of Abcam's Antibodies, Kits and Proteins for BCAT1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for BCAT1
     Proteins for BCAT1
     Antibodies for BCAT1
     ELISAs for BCAT1
     CLIAs for BCAT1



     Browse ESI BIO Cell Lines and PureStem Progenitors for BCAT1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCAT1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for BCAT1
     SwitchGear Promoter luciferase reporter plasmids for BCAT1
     ThermoFisher Antibodies for BCAT1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCAT1
     Browse compounds at ApexBio
     Search Addgene for plasmids for BCAT1
      Search eBioscience for proteins for BCAT1
      Search eBioscience for elisas for BCAT1
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for BCAT1
     antibodies-online antibodies for BCAT1 (42 products)
     antibodies-online kits for BCAT1 (4 products)
     antibodies-online peptides for BCAT1
     antibodies-online proteins for BCAT1 (8 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      BCAT1 gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4