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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
Physical map
SCOC 4q28.3 short coiled-coil protein LOC391702 4 similar to ribosomal protein L14; 60S ribosomal protein L14 CLGN 4q28.3-q31.1 calmegin LOC152586 4q31.1 similar to RIKEN cDNA 4933434I20 MGC10084 4q31.1 hypothetical protein MGC10084 UCP1 4q28-q31 uncoupling protein 1 (mitochondrial, proton carrier) KIAA0882 4q31.1 KIAA0882 protein LOC389225 4 LOC389225 LOC389226 4 similar to ring finger protein 130; g1-related zinc finger protein RNF150 4q31.1 ring finger protein 150 LOC389227 4 LOC389227 ZNF330 4q31.1-q31.2 LOC389227 LOC389228 4 similar to GRIK2 protein IL15 4q31 interleukin 15 INPP4B 4q31.11 inositol polyphosphate-4-phosphatase, type II, 105kDa USP38 4q31.1 ubiquitin specific protease 38 GAB1 4q31.4-q13.5 GRB2-associated binding protein 1 SMARCA5 4q31.1-q31.2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 LOC389229 4 similar to Beta-glucuronidase precursor (Beta-G1) LOC166752 4q31.1 similar to embryonic blastocoelar extracellular matrix protein precursor GYPE 4q31 glycophorin E LOC152891 4q31.1 similar to WW45 protein GYPB 4q28-q31 glycophorin B (includes Ss blood group) GYPA 4q28.2-31.1 glycophorin A (includes MN blood group) LOC391703 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) HHIP 4q28-q32 hedgehog interacting protein LOC345041 4q31.21 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) APC10 4q31 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) ABCE1 4q31 ATP-binding cassette, sub-family E (OABP), member 1 HSHIN1 4q31.21 HIV-1 induced protein HIN-1 LOC389230 4 LOC389230 LOC152905 4q31.21 similar to Reticulon protein 3 (Neuroendocrine-specific protein-like 2) (NSP-like protein II) (NSPLII) FLJ13262 4q31.21 hypothetical protein FLJ13262 MADH1 4q28 MAD, mothers against decapentaplegic homolog 1 (Drosophila) DKFZP586M0622 LOC345045 4q31.21 similar to nuclear receptor coactivator 4; RET-activating gene ELE1 MMAA LOC152485 4q31.21 hypothetical protein LOC152485 LSM6 4q31.21 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) LOC345051 4q31.21 similar to MGC53273 protein
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