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FLASH GENE
Symbol SORBS1 contributors: SGE/npt/shn/pgu - updated : 20-12-2009
HGNC name sorbin and SH3 domain containing 1
HGNC id 14565
Location 10q24.1      Physical location : 97.071.530 - 97.321.171
Synonym name
  • SH3-domain protein 5 (ponsin)
  • CBL associated protein, ponsin
  • Fas-ligand associated factor 2
  • Synonym symbol(s) CAP, SH3P12, KIAA1296, SH3D5, FLAF2, R85FL, SORB1, FLJ12406, DKFZp451C066, DKFZp586P1422, KIAA0894
    DNA
    TYPE functioning gene
    STRUCTURE 249.64 kb     31 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D10S1690 - D10S520 - SORBS1 - D10S91 - D10S574 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 splicing 7226 - 1292 - -
    31 splicing 6803 - 1151 - -
    28 splicing 6065 - 905 - -
    26 splicing 5874 - 781 - -
    25 splicing 5979 - 816 - -
    22 splicing 5570 - 740 - -
    21 splicing 5402 - 684 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   moderately
    Nervousbrain   lowly
    Respiratorylung   lowly
    Urinarykidney   moderately
    Visualeyelens  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visuallens fibers
    cell lineage
    cell lines 3T3-L1 adipocytes, hepatoma Hep3B
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • sorbin homologous domain
  • three SH3 domains
  • HOMOLOGY
    interspecies ortholog to Sorbs1, Rattus norvegicus
    ortholog to SORBS1, Pan troglodytes
    ortholog to Sorbs1, Mus musculus
    Homologene
    FAMILY
  • SH3P12-ArgBP2A-vinexin adaptor family
  • SoHo family of adaptor molecules
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text localized at cell-cell and cell-matrix adherens junctions
    basic FUNCTION
  • an important adaptor during insulin signaling
  • involved in insulin pathway recruiting phosphorylated CBL to the insulin receptor and cytoskeleton reorganization
  • regulating cytoskeletal organization and signal transduction
  • involved in formation of actin stress fibers and focal adhesions
  • modulates the important role of macrophages in the induction of insulin resistance
  • may coordinate the function of dynamin with the regulation of the actin cytoskeleton during endocytosis
  • a potential role in lens fiber cell migration, adhesive interactions, polarity and maintnace of lens transparency
  • through its interaction with FLNC, provides another link between the myofibril cytoskeleton and the plasma membrane of muscle cells, and it may play a dynamic role in the regulation and maintenance of muscle structural integrity
  • involved in insulin-stimulated glucose uptake
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    insulin signaling pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • recruiting CBL to the insulin receptor
  • paxillin and vinculin
  • l afadin
  • c-abl oncogene 1, receptor tyrosine kinase (ABL1)
  • ataxin 7 (SCA7)
  • flotillin
  • insulinoma-associated 1 (INSM1)
  • binding to and colocalizing with the dynamin
  • Cbl proto-oncogene
  • SH2B adaptor protein 2
  • interacts with both signaling and cytoskeletal proteins
  • SH2-containing inositol polyphosphate 5-phosphatase SHIP2
  • interacting with NCK1, NCK2
  • cell & other
    REGULATION
    activated by BRL49653
    induced by during myoblast differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism SNP
  • T228A significantly associated with obesity and type 2 diabetes
  • possible association with late-onset Alzheimer disease
  • Candidate gene insulin resistance,obesity
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Sorbs1 gene in mice protects against high-fat diet (HFD)-induced insulin resistance
  • RhoGDIalpha transgenic mouse lenses revealed a marked downregulation of expression of multiple splice variants of ponsin