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FLASH GENE
Symbol GAB1 contributors: mct - updated : 04-01-2014
HGNC name GRB2-associated binding protein 1
HGNC id 4066
Location 4q31.21      Physical location : 144.257.982 - 144.395.717
Synonym symbol(s) EVI92
DNA
TYPE functioning gene
STRUCTURE 138.04 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 7926 - 724 - 2007 17178724
10 - 7836 - 694 - 2007 17178724
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousbrain   highly
Reproductivefemale systemovary  highly
 male systemtestis  highly
Respiratorylung   highly
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal PH domain
  • proline rich sequence
  • several SH3 and SH2 domain binding sites
    • HOMOLOGY
    interspecies homolog to murine Gab1
    Homologene
    FAMILY
  • insulin receptor substrate-1 like family of adaptor molecules
  • GAB family
    • CATEGORY adaptor , signaling , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • playing a role in broad range of growth factor and cytokine signaling pathway
  • important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis
  • non-redundant and essential roles of GAB1 and GAB2 in endothelial cells, suggesting major contributions of these proteins during angiogenesis
  • is essential for postnatal angiogenesis through mediating angiogenic and survival signaling
  • docking protein that transduces signals from a variety of tyrosine kinases, including Met and the epidermal growth factor receptor (EGFR)
  • role of GAB1 and GAB2 in IL22-mediated keratinocyte proliferation, migration, and differentiation
  • plays an important role as part of the mechanism of by which EGFR induces induced activation of the MAPK and AKT pathway
  • is a negative regulator of epithelial cell polarity that functions as a scaffold for modulating PAR protein complexes on the lateral membrane
  • docking/scaffold protein and key mediator of the MET-tyrosine kinase receptor activated by hepatocyte growth factor/scatter factor (HGF/SF)
  • anti-apoptotic role of caspase-cleaved GAB1 in HGF/SF-MET signaling
  • key coordinator that is tyrosine phosphorylated in response to various growth factors, cytokines, and numerous other molecules
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with SH2 containing proteins (PTPN11), required for EGF signal transduction
  • PTPN11 participates in GH-induced RAS/ERK1/2 activation by dephosphorylating GAB1 on its RASA1 binding sites
  • mediate epidermal growth factor-induced epidermal growth and differentiation via interaction with PTPN11
  • binds MARK2 and enhances its kinase activity
  • GAB1 brings MARK2 and PARD3 into a transient complex, stimulating PARD3 phosphorylation by MARK2
  • GAB1 and PARD6A bind the PARD3 PDZ1 domain and thereby compete for PARD3 binding
  • negatively regulated by PTPN1 (PTPN1 regulates the phosphorylation state of retinal GAB1) )
  • PECAM1 specifically mediating GAB1 tyrosine phosphorylation and its downstream AKT1 and eNOS activation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveoesophagus
    reducing GAB1 function may sensitize head and neck squamous cell carcinoma (HNSCC) to EGFR inhibitors, hence representing a new therapeutic target HNSCC treatment in combination with EGFR targeting agents
    ANIMAL & CELL MODELS