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FLASH GENE
Symbol SH3BP1 contributors: mct - updated : 26-11-2020
HGNC name SH3-domain binding protein 1
HGNC id 10824
Location 22q13.1      Physical location : 38.035.683 - 38.052.049
Synonym symbol(s) dJ37E16.2, 3BP-1, ARHGAP43
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
text
  • brain-specific RhoGAP splice variant, BARGIN (BGIN), which comprises a combination of BAR, GAP, and partial PDXP phosphatase domains spliced from adjacent SH3BP1 and PDXP gene loci (23223568)
    • STRUCTURE 16.64 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2592 76 701 - 2012 22891260
    18 - 2213 - 608 - 2012 22891260
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain of SH3BP1 has recently been shown to associate with the exocyst in cells overexpressing the GAP
  • an SH3 domain
  • RhoGAP domains, which were thought to be inactive toward RhoA, are also found capable of stimulating the GTPase activity of RHOA in a dose-dependent manner
    • HOMOLOGY
    Homologene
    FAMILY RhoGAP family
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • new and specific RAC1 GAP that can act in cells to counter RAC1-mediated membrane ruffling
  • partner of the exocyst complex
  • regulates cell migration via its GAP activity upon RAC1
  • SH3BP1 regulates epithelial junction formation
  • is a critical regulator of junction formation and epithelial morphogenesis in cell models derived from different epithelial tissues
  • SH3BP1 complex contains two activities that regulate the actin cytoskeleton: a GAP and a capping activity
  • ARHGAP12, ARHGAP25 and SH3BP1 are responsible for GTPase inactivation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • SH3BP1 formed a complex with CGNL1/paracingulin, a junctional adaptor, and CD2AP, a scaffolding protein, and both were required for normal CDC42 signaling and junction formation
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • downregulates RAC1 at the motile-cell front, indicating that RAC1 inactivation in this location, as well as its activation by GEF proteins, is a fundamental requirement for cell motility
  • SH3BP1, a GTPase-activating protein for CDC42 and RAC1, is a regulator of junction assembly and epithelial morphogenesis
  • CDC42 is a functionally important target of SH3BP1
  • identification and characterization of SH3BP1 as a novel downstream effector of SEMA3E-PlexinD1
  • SH3BP1 specifically inactivating RAC1 and its target WASF2 is required for cell motility, thus regarded as an essential regulator of cancer cell metastasis
  • PACSIN2 competitively interacts with COBLL1 or SH3BP1 with a higher affinity for COBLL1
  • reciprocal interactions among COBLL1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in cervical cancer tissues, and is correlated with a shorter overall survival of patients with cervical cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS