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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCAT1 Gene

protein-coding   GIFtS: 66
GCID: GC12M024868

branched chain amino-acid transaminase 1, cytosolic

(Previous names: branched chain aminotransferase 1, cytosolic )
(Previous symbol: BCT1)
 Explore 17 diseases affiliated with
BCAT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BCAT1    

Aliases
for BCAT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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)1
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


Summaries
for BCAT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BCAT1:
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)

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




Genomic Views
for BCAT1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BCAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for BCAT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Cytoplasm
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P54687

    • 4/7 DME Specific Peptides for BCAT1 (P54687) (see all 7)
     ILPGVTR  TEVGTMN  PVSLWANPK  GDCKMGGNY 

    BCAT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals BCAT1 Proteins
    Novus Biologicals BCAT1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for BCAT1
    Uscn Proteins for BCAT1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    BCAT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BCAT1

    Protein Domains /
    Families
    for BCAT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BCAT1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB001544 Aminotransferase

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


    Function
    for BCAT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-mir-155 (MIRT004088)

    OriGene 3'-UTR Clone: BCAT1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BCAT1
    8/133 QIAGEN miScript miRNA 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:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BCAT1 (see all 7)
    OriGene shRNA RFP: BCAT1
    OriGene siRNA: BCAT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BCAT1

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BCAT1 (see all 8)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BCAT1 (see all 5)
    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCAT1 

    Cell Line
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    Search LifeMap BioReagents cell lines for BCAT1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCAT1

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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 ----
    GO:0052654L-leucine transaminase activity IEA--
    GO:0052655L-valine transaminase activity IEA--


    BCAT1 for ontologies           About GeneDecksing


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

    Animal Models:
         1 MGI phenotypic allele for Bcat1 (no phenotypes)

    BCAT1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BCAT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Branched-chain amino acid catabolism
    		Branched-chain amino acid catabolism1.00
    		Valine, leucine and isoleucine degradation0.39
    		valine degradation I0.48
    		leucine degradation I0.33
    		isoleucine degradation I0.41
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4Validated targets of C-MYC transcriptional activation
    		Validated targets of C-MYC transcriptional activation1.00
    5Valine, leucine and isoleucine biosynthesis
    		Valine, leucine and isoleucine biosynthesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    3        Reactome Pathways for BCAT1
        Metabolism
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism


    4         Kegg Pathways  (Kegg details for BCAT1):
        Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine biosynthesis
    Pantothenate and CoA biosynthesis
    Metabolic pathways


    BCAT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BCAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/37 Interacting proteins for BCAT1 (P546872, 3 ENSP000002611924) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD5Q997172, 3MINT-61838 I2D: score=3 
    HSPD1P108093, ENSP000003400194I2D: score=3 STRING: ENSP00000340019
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    PIN1Q135263I2D: score=3 
    AADATQ8N5Z03I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS8692959
    GO:0008283cell proliferation TAS6933702
    GO:0009082branched-chain amino acid biosynthetic process IEA--
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--


    BCAT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BCAT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BCAT1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for BCAT1

    10/11 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 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)

    Search CenterWatch for drugs/clinical trials and news about BCAT1 

    Transcripts
    for BCAT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    8/133 QIAGEN miScript miRNA 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
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BCAT1 (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BCAT1
    Clone
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    Primer
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    Additional cDNA 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 

    24/354 AceView cDNA sequences (see all 354):

    CA424461 AA400674 BX474651 BE466395 AI985809 BU174748 BM472661 BG504295 
    BU148659 BU181634 AI357254 AI671821 BM470094 BQ775714 AU133102 BM716112 
    BE550357 T93695 AW590423 BX498412 NM_005504 BU623034 BQ223594 AI652662 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for BCAT1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAATAATTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BCAT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BCAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCAT1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including BCAT1: 
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              Cardiotoxicity in human mouse rat

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    In Situ
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    Orthologs
    for BCAT1 gene

    (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
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for BCAT1 gene from 10/33 species (see all 33)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves BCAT11 branched chain amino-acid transaminase 1, cytosolic 75.28(n)
    77.02(a)    		   418193  XM_416424.3  XP_416424.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BCAT16
    		 --
    		 78(a)
    		 1 ↔ 1
    		 5(8145681-8165206)
    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
    54.76(n)1
    52.91(a)1    		   11F33
    322971  NM_132656.11  NP_572884.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y44A6D.53 Aminotransferase class IV 44(a)   V(20793381-20795099)   --
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes BAT2(YJR148W)4
    BAT21    		 Cytosolic branched-chain amino acid (BCAA) aminotransferase, more4
    Bat2p1    		 55.23(n)1
    51.16(a)1    		   10(705744-706874)4
    8536131, 4  NP_012682.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G051906
    AT5G274106
    (see all 9)    		 branched-chain-amino-acid aminotransferase-like pr...
    branched-chain-amino-acid aminotransferase-like pr...
    (see all 9)    		 9(a)
    6(a)
    (see all 9)    		 possible ortholog
    possible ortholog
    (see all 9)    		 3(1471397-1475784)
    5(9676334-9682940)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 8)    		 aminotransferase domain containing protein, putati...
    aminotransferase domain containing protein, putati...
    (see all 8)    		 29(a)
    29(a)
    (see all 8)    		 possible ortholog
    possible ortholog
    (see all 8)    		 5(27716140-27722189)
    3(374274-379044)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ilvE6
    		 branched-chain amino-acid aminotransferase
    		 26(a)
    		 possible ortholog
    		 Chromosome(3950507-3951436)


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

    Paralogs
    for BCAT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCAT1 gene
    BCAT22  
    1 SIMAP similar gene for BCAT1 using alignment to 3 protein entries:     BCAT1_HUMAN (see all proteins):
    BCAT2

    BCAT1 for paralogs           About GeneDecksing



    Genomic Variants
    for BCAT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2592 NCBI SNPs in BCAT1 are shown (see all 2592)     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,unknown24787708(+) TTCCAA/C/GTCCAC 5 -- int11WA 118
    rs79707251,2
    		C,F,A,--24732393(+) ccaaaT/Ccatag 5 -- ds50011Minor allele frequency- C:0.21NA 120
    rs79593261,2
    		C,F,A,H,--24732912(+) AAAGAC/ACTTTG 5 -- ut315Minor allele frequency- A:0.01NS EA WA 538
    rs743244641,2
    		F,--24733392(+) GAATTG/CAGCGT 5 -- ut311Minor allele frequency- C:0.05WA 118
    rs776187681,2
    		C,F,--24733454(+) CTGCGC/TGTAAC 5 -- ut311Minor allele frequency- T:0.03WA 118
    rs763876801,2
    		F,--24733551(+) AGTTCA/GGTTTA 5 -- ut311Minor allele frequency- G:0.03WA 118
    rs114861,2
    		C,F,A,H,--24734450(-) AGCTCA/GCNNNN 5 -- ut3114Minor allele frequency- G:0.15MN NS EA NA 1858
    rs797138431,2
    		C,F,--24734479(+) CCTGCG/AGATGA 5 -- ut311Minor allele frequency- A:0.15WA 118
    rs110476501,2
    		C,F,--24734504(+) CAAGCC/TTCATT 5 -- ut311Minor allele frequency- T:0.03WA 118
    rs173715711,2
    		C,F,H,--24734636(+) CAGATT/GCAGAT 5 -- ut317Minor allele frequency- G:0.01NA NS EA 560

    HapMap Linkage Disequilibrium report for BCAT1 (24962958 - 25102393 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for BCAT1
         5 CNVs: 86271 86269 49032 86270 5294
         1 Indel: 58561

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    Disorders / Diseases
    for BCAT1 gene

    (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
    BCAT1 for disorders           About GeneDecksing

    OMIM gene information: 113520    OMIM disorders: --

    17 diseases for BCAT1:    About MalaCards
    hyperleucine-isoleucinemia    hypervalinemia or hyperleucine-isoleucinemia    hyperleucinemia-isoleucinemia or hypervalinemia    maple syrup urine disease
    childhood medulloblastoma    burkitt's lymphoma    lung adenoma    adenoma
    medulloblastoma    nasopharyngitis    colorectal cancer    pneumonia
    tuberculosis    neuronitis    carcinoma    mycobacterium tuberculosis
    neurodegenerative disease

    Human Genome Epidemiology (HuGE) Navigator: BCAT1 (11 documents)

    Export disorders for BCAT1 gene to outside databases

    Publications
    for BCAT1 gene

    (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

    PubMed articles for BCAT1 gene, integrated from 9 sources (see all 56):
    (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. (2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Cloning of the rat and human mitochondrial branched chain aminotransferases (BCATm). (PubMed id 9165094)1, 3 Bledsoe R.K.... Hutson S.M. (1997)
    4. 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. (1996)
    5. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    6. Distribution of the branched chain aminotransferase pr oteins in the human brain and their role in glutamate regulation. (PubMed id 23043456)1 Hull J....Conway M.E. (2012)
    7. Differential redox potential between the human cytosol ic and mitochondrial branched-chain aminotransferase. (PubMed id 22107788)1 Coles S.J....Conway M.E. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for BCAT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BCAT1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 586 HGNC: 976 AceView: BCAT1 Ensembl:ENSG00000060982 euGenes: HUgn586
    ECgene: BCAT1 Kegg: 586 H-InvDB: BCAT1

    Other Databases showing BCAT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BCAT1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCAT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BCAT1

    Intellectual Property
    for BCAT1 gene

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



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