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FLASH GENE
Symbol SIPA1 contributors: mct/npt - updated : 18-05-2010
HGNC name signal-induced proliferation-associated gene 1
HGNC id 10885
Location 11q13.1      Physical location : 65.405.577 - 65.418.391
Synonym name
  • GTPase-activating protein Spa-1
  • p130 SPA-1
  • Synonym symbol(s) SPA1H1, SPA1, MGC17037, MGC102688
    DNA
    TYPE functioning gene
    STRUCTURE 12.81 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see MEN1 MEN1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3513 - 1042 - Ebrahimi (1998)
    16 - 3642 - 1042 - Ebrahimi (1998)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     thymus   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • GAP-related domain hmologous to murine gene, at the N terminus
  • a PDZ protein-protein interaction domain
  • a leucine zipper at the C terminus
  • HOMOLOGY
    interspecies homolog to murine Spa-1
    intraspecies homolog to RAP1GAP
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • GTPase-activating protein may be involved in the NMDA-mediated organization of cytoskeletal networks and signal transduction
  • Rap1 GTPase-activating protein in hematopoietic progenitor cells that regulates RAP1-related signal transduction and is expressed restrictively in adult tissues (bone marrow, thymus, and spleen) (Lee 2008)
  • may be involved in human embryonic stem cells (hESC) dynamics, and our results provide fundamental information regarding the self-renewal and differentiation of hESCs (Lee 2008)
  • functions as a suppressor of myeloid leukemia by negatively regulating RAP1 signaling in hematopoietic progenitor cells (Wang 2008)
  • having Rap1 GTPase-activating protein activity (Crawford 2009)
  • may be involved in different stages of breast carcinogenesis (Hsieh 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PSD-95 family proteins
  • directly binds to AQP2 and regulates at least in part AQP2 trafficking
  • interacting with RRP1B (RRP1B binding decreasing the Rap1 GTPase-activating protein activity of SIPA1) (Crawford 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    during human embryonic stem cells differentiation (Lee 2008)
    Susceptibility to sporadic breast cancer
    Variant & Polymorphism SNP SNP rs3741378 is a novel potential sporadic breast cancer predisposition (Hsieh 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS