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GAB1 Gene

protein-coding   GIFtS: 65
GCID: GC04P144257

GRB2-Associated Binding Protein 1

  See GAB1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
GRB2-Associated Binding Protein 11 2
Growth Factor Receptor Bound Protein 2-Associated Protein 12 3
GRB2-Associated Binder 12 3
GRB2-Associated-Binding Protein 12

External Ids:    HGNC: 40661   Entrez Gene: 25492   Ensembl: ENSG000001094587   OMIM: 6044395   UniProtKB: Q134803   

Export aliases for GAB1 gene to outside databases

Previous GC identifers: GC04P145054 GC04P144619 GC04P144724 GC04P144835 GC04P144615 GC04P144477 GC04P139987


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GAB1 Gene:
The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an
important mediator of branching tubulogenesis and plays a central role in cellular growth response,
transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Aug 2008)

GeneCards Summary for GAB1 Gene:
GAB1 (GRB2-associated binding protein 1) is a protein-coding gene. Diseases associated with GAB1 include leopard syndrome. GO annotations related to this gene include SH3/SH2 adaptor activity and phospholipid binding. An important paralog of this gene is GAB3.

UniProtKB/Swiss-Prot: GAB1_HUMAN, Q13480
Function: Adapter protein that plays a role in intracellular signaling cascades triggered by activated
receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth
factor receptor (EGFR) and the insulin receptor (INSR)

Gene Wiki entry for GAB1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAB1 gene promoter:
         AP-1   ATF-2   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAB1 promoter sequence
   Search Chromatin IP Primers for GAB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAB1


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

Entrez Gene cytogenetic band: 4q31.21   Ensembl cytogenetic band:  4q31.21   HGNC cytogenetic band: 4q31.1

GAB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAB1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P144257:  view genomic region     (about GC identifiers)

Start:
144,257,915 bp from pter      End:
144,395,721 bp from pter
Size:
137,807 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GAB1_HUMAN, Q13480 (See protein sequence)
Recommended Name: GRB2-associated-binding protein 1  
Size: 694 amino acids; 76616 Da
Subunit: Interacts with GRB2 and with other SH2-containing proteins. Interacts with phosphorylated LAT2. Interacts
with PTPRJ. Identified in a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Interacts (phosphorylated) with
PTPN11. Interacts with HCK
Secondary accessions: A8K152 Q4W5G2 Q6P1W2
Alternative splicing: 2 isoforms:  Q13480-1   Q13480-2   (Contains a phosphoserine at position 547)

Explore the universe of human proteins at neXtProt for GAB1: NX_Q13480

Explore proteomics data for GAB1 at MOPED

Post-translational modifications: 

  • Phosphorylated in response to FGFR1 activation. Phosphorylated on tyrosine residue(s) by the epidermal growth
    factor receptor (EGFR) and the insulin receptor (INSR). Tyrosine phosphorylation of GAB1 mediates interaction
    with several proteins that contain SH2 domains. Phosphorylated on tyrosine residues by HCK upon IL6 signaling1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GAB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002030.2  NP_997006.1  

    ENSEMBL proteins: 
     ENSP00000262995   ENSP00000262994   ENSP00000427435   ENSP00000426668   ENSP00000424554  
     ENSP00000425921   ENSP00000420867   ENSP00000426297  
    Reactome Protein details: Q13480

    GAB1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for GAB1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing

    2 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q13480

    ProtoNet protein and cluster: Q13480

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: GAB1_HUMAN, Q13480
    Similarity: Belongs to the GAB family
    Similarity: Contains 1 PH domain


    Find genes that share domains with GAB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GAB1_HUMAN, Q13480
    Function: Adapter protein that plays a role in intracellular signaling cascades triggered by activated
    receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth
    factor receptor (EGFR) and the insulin receptor (INSR)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005070SH3/SH2 adaptor activity TAS8596638
    GO:0005515protein binding IPI10978177
         
    Find genes that share ontologies with GAB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GAB1:
     Upregulation of Wnt/beta-caten 

         13 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Gab1):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size/body  homeostasis/metabolism  integument  liver/biliary system 
     mortality/aging  muscle  vision/eye 

    Find genes that share phenotypes with GAB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gab1tm1Ajw for GAB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GAB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GAB1

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GAB1

    miRNA
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    miRTarBase miRNAs that target GAB1:
    hsa-mir-181d-5p (MIRT041177)

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    Selected qRT-PCR Assays for microRNAs that regulate GAB1 (see all 112):
    hsa-miR-361-5p hsa-miR-3152-3p hsa-miR-376b hsa-miR-1224-3p hsa-miR-106a hsa-miR-128 hsa-miR-1260b hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidGAB1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GAB1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): GAB1 (NM_207123)
    Sino Biological Human cDNA Clone for GAB1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with GAB1           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).
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    SuperPaths for GAB1 About   (see all 48)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Development HGF signaling pathway
    Development HGF signaling pathway0.45
    Apoptosis and survival NGF signaling pathway0.36
    Development Neurotrophin family signaling0.45
    Neurotrophin signaling pathway0.36
    Development EGFR signaling via PIP30.40
    Signaling of Hepatocyte Growth Factor Receptor0.35
    2ErbB signaling pathway
    ErbB signaling pathway0.52
    ErbB signaling pathway0.52
    3Signaling by FGFR
    Signaling by FGFR0.91
    Signaling by PDGF0.87
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.83
    Downstream signaling of activated FGFR0.91
    Signaling by EGFR in Cancer0.82
    Downstream signal transduction0.90
    NGF signalling via TRKA from the plasma membrane0.71
    4PI-3K cascade
    PI3K/AKT activation0.93
    PI3K/AKT Signaling in Cancer0.88
    GAB1 signalosome0.93
    PI3K events in ERBB4 signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    Role of LAT2/NTAL/LAB on calcium mobilization0.80
    PIP3 activates AKT signaling0.88
    Signaling by SCF-KIT0.72
    5Insulin receptor signalling cascade
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    IRS-related events triggered by IGF1R0.92
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    PI3K Cascade0.87
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.80


    Find genes that share SuperPaths with GAB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GAB1 (see all 11)
        HGF Pathway
    Internalin Pathway
    Molecular Mechanisms of Cancer
    GDNF-Family Ligands and Receptor Interactions
    TRKA Signaling

    1 Cell Signaling Technology (CST) Pathway for GAB1
        Tyrosine Kinases / Adaptors

    Selected GeneGo (Thomson Reuters) Pathways for GAB1 (see all 10)
        Development FGF-family signaling
    Development Neurotrophin family signaling
    Signal transduction AKT signaling
    Translation Regulation of EIF2 activity
    Cell adhesion PLAU signaling

    Selected BioSystems Pathways for GAB1 (see all 24)
        EGFR1 Signaling Pathway
    Insulin Signaling
    ErbB signaling pathway
    Signaling Pathways in Glioblastoma
    IL-6 Signaling Pathway


    Selected Reactome Pathways for GAB1 (see all 8)
        Signaling by FGFR mutants
    PI3K Cascade
    PI3K events in ERBB2 signaling
    GAB1 signalosome
    Constitutive PI3K/AKT Signaling in Cancer


    Selected Kegg Pathways  (Kegg details for GAB1) (see all 6):
        ErbB signaling pathway
    Ras signaling pathway
    Neurotrophin signaling pathway
    Bacterial invasion of epithelial cells
    Proteoglycans in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GAB1: 
              Insulin Signaling Pathway in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GAB1

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

    Selected Interacting proteins for GAB1 (Q134801, 2, 3 ENSP000002629954) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN11Q061241, 2, 3, ENSP000003409444EBI-517684,EBI-297779 MINT-6169355 MINT-6169300 MINT-6169451 MINT-6169344 MINT-8025571 MINT-8029574 MINT-6169406 MINT-6169374 MINT-8029606 MINT-8288652 MINT-8025555 MINT-7026140 MINT-6169338 MINT-6169389 MINT-6169309 MINT-6169327 MINT-6169291 MINT-8029590 I2D: score=10 STRING: ENSP00000340944
    PIK3R1P279861, 2, 3, ENSP000002743354EBI-517684,EBI-79464 MINT-8028258 MINT-1893011 MINT-8035009 MINT-8030430 MINT-8030445 MINT-8034994 MINT-8028243 I2D: score=6 STRING: ENSP00000274335
    GRB2P629931, 2, 3, ENSP000003390074EBI-517684,EBI-401755 MINT-58399 MINT-8361999 MINT-8362048 MINT-8362017 MINT-58398 MINT-58400 MINT-58395 I2D: score=10 STRING: ENSP00000339007
    PTPRJQ129131, 2, 3, ENSP000004000104EBI-517684,EBI-2264500 MINT-7026908 I2D: score=2 STRING: ENSP00000400010
    METP085812, 3, ENSP000003172724MINT-58404 I2D: score=4 STRING: ENSP00000317272
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity ----
    GO:0006979response to oxidative stress IEA--
    GO:0007165signal transduction ----
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007257activation of JUN kinase activity IEA--

    Find genes that share ontologies with GAB1           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GAB1

    Selected Novoseek inferred chemical compound relationships for GAB1 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 80.7 46 10022866 (3), 9632795 (2), 19050043 (2), 15351743 (2) (see all 29)
    tyrosine 77.4 165 11695994 (8), 11262408 (7), 10194437 (6), 8906793 (5) (see all 62)
    ly294002 62.2 4 19665053 (2), 10022866 (1), 11695994 (1)
    phosphatidylinositol-3,4,5-trisphosphate 61.1 4 10531383 (2), 10194437 (1), 12686619 (1)
    phosphoinositide 56.9 6 11695994 (2), 15784547 (1), 11134009 (1), 15679846 (1)
    phosphotyrosine 55.5 8 10194437 (1), 11323411 (1), 8906793 (1), 12582165 (1) (see all 6)
    wortmannin 54.8 2 10842168 (1)
    gp 130 47.9 7 9632795 (2), 10068651 (2), 11196191 (1), 12855672 (1)
    phenylalanine 29 6 11002419 (1), 15784547 (1), 11403719 (1), 12446613 (1)
    threonine 14.4 13 15379552 (4), 11313945 (2), 17625596 (2), 12748184 (1)



    Find genes that share compounds with GAB1           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 )
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    REFSEQ mRNAs for GAB1 gene (2 alternative transcripts): 
    NM_002039.3  NM_207123.2  

    Unigene Clusters for GAB1:

    GRB2-associated binding protein 1
    Hs.80720  [show with all ESTs], Hs.618456
    Unigene Representative Sequences: NM_207123, AK074381
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262995(uc003ijd.3 uc003ije.3 uc011chq.2) ENST00000262994
    ENST00000514639 ENST00000515366 ENST00000505913 ENST00000515388 ENST00000509992
    ENST00000511836 ENST00000512843 ENST00000507334 ENST00000507070 ENST00000510615
    ENST00000508833 ENST00000511109
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    hsa-miR-361-5p hsa-miR-3152-3p hsa-miR-376b hsa-miR-1224-3p hsa-miR-106a hsa-miR-128 hsa-miR-1260b hsa-miR-200a
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    Additional mRNA sequence: AK074381.1 

    10 DOTS entries:

    DT.409922  DT.97819196  DT.95367162  DT.97793558  DT.121221662  DT.91925642  DT.91842447  DT.121221692 
    DT.97844118  DT.100641098 

    2 AceView cDNA sequences:

    AK074381 AA969091 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GAB1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:              -     -     -                                                                     
    SP2:              -     -     -                                   -                                 
    SP3:                                                                                                


    ECgene alternative splicing isoforms for GAB1

    (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

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    GAB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTACTACA
    GAB1 Expression
    About this image


    GAB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Hypobranchial Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Head Mesenchyme (Muscoskeletal System)
             Muscle Progenitor Cells Hypobranchial Muscles
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    GAB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAB1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.80720 Hs.618456
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GAB1: 
              Insulin Signaling Pathway in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GAB1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gab11 , 5 growth factor receptor bound protein 2-associated protein more1, 5 84.34(n)1
    90.35(a)1
      8 (38.47 cM)5
    143881  NM_021356.21  NP_067331.21 
     807644345 
    chicken
    (Gallus gallus)
    Aves GAB11 GRB2-associated binding protein 1 83.19(n)
    88.75(a)
      422456  XM_001232601.3  XP_001232602.1 
    lizard
    (Anolis carolinensis)
    Reptilia GAB16
    GRB2-associated binding protein 1
    80(a)
    1 ↔ 1
    5(118551911-118660263)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.75332 Xenopus laevis transcribed sequence with weak similarity more 82.19(n)    CA985958.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.175092 Danio rerio mRNA similar to growth factor receptor more 76.04(n)    BC049429.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dos6
    daughter of sevenless
    14(a)
    1 → many
    3L(2589414-2595590)


    ENSEMBL Gene Tree for GAB1 (if available)
    TreeFam Gene Tree for GAB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAB1 gene
    GAB32  GAB22  GAB42  
    2 SIMAP similar genes for GAB1 using alignment to 7 protein entries:     GAB1_HUMAN (see all proteins):
    GAB2    GAB4

    Find genes that share paralogs with GAB1           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)
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    Selected SNPs for GAB1 (see all 2459)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361334
    A breast cancer sample4--see VAR_0361332 T N mis40--------
    VAR_0361324
    A breast cancer sample4--see VAR_0361322 Y C mis40--------
    rs3008941,2
    C,F,A,H--144255998(-) TAAAGG/AGTCAA 2 -- us2k120Minor allele frequency- A:0.25EA NA MN NS WA CSA 995
    rs1812126851,2
    --144256071(+) CAGCAC/TCTAAT 2 -- us2k10--------
    rs1145636061,2
    F--144256314(+) TAATAA/GTTGTG 2 -- us2k11Minor allele frequency- G:0.01NA 120
    rs2008673531,2
    --144256382(+) TTCTT-/TCTCTCT 2 -- us2k10--------
    rs100143581,2
    C--144256398(+) TCTCtC/Tttttt 2 -- us2k1 trp31Minor allele frequency- T:0.00NA 2
    rs1861916051,2
    --144256562(+) CCCGGC/GTAATT 2 -- us2k10--------
    rs759547301,2
    C--144256574(+) TTGTA-/TTTTTA 2 -- us2k10--------
    rs131051561,2
    C,F,H--144256713(+) TCTTCT/CAGTCC 2 -- us2k1 trp317Minor allele frequency- C:0.10NS EA NA WA 2170

    HapMap Linkage Disequilibrium report for GAB1 (144257915 - 144395721 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GAB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2576302CNV Deletion19546169
    nsv437941CNV Loss16468122
    nsv830103CNV Loss17160897
    dgv1682e1CNV Complex17122850
    dgv1684e1CNV Complex17122850
    dgv1683e1CNV Complex17122850
    dgv1681e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): GAB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GAB1
    DNA2.0 Custom Variant and Variant Library Synthesis for GAB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604439    OMIM disorders: --

    1 disease for GAB1:    
    About MalaCards
    leopard syndrome


    Find genes that share disorders with GAB1           About GenesLikeMe

    7 Novoseek inferred disease relationships for GAB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glioblastoma 17.1 3 14701753 (2), 9890893 (1)
    sarcoma 4.55 1 17210721 (1)
    breast cancer 4.07 2 16715136 (1), 12748184 (1)
    breast carcinoma 0 1 15952937 (1)
    necrosis 0 1 17284447 (1)
    tumors 0 6 18192688 (2), 14668796 (1), 9890893 (1), 12748184 (1) (see all 5)
    cancer 0 2 17211494 (1), 19350053 (1)

    Genetic Association Database (GAD): GAB1
    Human Genome Epidemiology (HuGE) Navigator: GAB1 (9 documents)

    Export disorders for GAB1 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)
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    PubMed articles for GAB1 gene, integrated from 10 sources (see all 200):
    (articles sorted by number of sources associating them with GAB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Grb2-associated docking protein in EGF- and insulin-receptor signalling. (PubMed id 8596638)1, 2, 3, 9 Holgado-Madruga M....Wong A.J. (Nature 1996)
    2. Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy. (PubMed id 17211494)1, 4, 9 Goto Y....Hamajima N. (Int J Med Sci 2007)
    3. Critical role for hematopoietic cell kinase (Hck)-mediated phosphorylation of Gab1 and Gab2 docking proteins in interleukin 6- induced proliferation and survival of multiple myeloma cells. (PubMed id 15010462)1, 2, 9 Podar K.... Anderson K.C. (J. Biol. Chem. 2004)
    4. Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. (PubMed id 21804548)1, 4 Hirota T....Tamari M. (Nat. Genet. 2011)
    5. Grb2-associated binder 1 (Gab1) genetic polymorphism, Helicobacter pylori infection, and chronic atrophic gastritis among older adults from Germany. (PubMed id 20602450)1, 4 Gao L....Brenner H. (Mol. Carcinog. 2010)
    6. 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)
    7. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 2549 HGNC: 4066 AceView: GAB1.1 Ensembl:ENSG00000109458 euGenes: HUgn2549
    ECgene: GAB1 Kegg: 2549 H-InvDB: GAB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GAB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GAB1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gab1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GAB1 gene:
    Search GeneIP for patents involving GAB1

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



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