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FLASH GENE
Symbol SASH1 contributors: mct/npt - updated : 15/102008
HGNC name SAM and SH3 domain containing 1
HGNC id 19182
Location 6q24.3      Physical location : 148.663.728 - 148.873.184
Synonym name
  • KIAA0790 protein
  • proline-glutamate repeat-containing protein
  • Synonym symbol(s) KIAA0790, dJ323M4.1, RP3-323M4.1, SH3D6A, 2500002E12Rik
    DNA
    TYPE functioning gene
    STRUCTURE 209.46 kb     20 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
    20 - 7709 136.5 1247 - Rimkus (2006)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   predominantly
    Digestiveliver   predominantly
    Endocrinepancreas   highly
    Nervousbrain   predominantly
    Reproductivefemale systemovary  predominantly
     male systemtestis  highly
    Respiratorylung   predominantly
    Urinarykidney   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two sam (sterile alpha motif) domain
  • one sh3 domain
  • HOMOLOGY
    interspecies ortholog to murine Sash1
    Homologene
    FAMILY
  • SH3/SAM adapter molecules family
  • CATEGORY signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • tumor suppressor gene possibly involved in tumorigenesis of breast and other solid cancers
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer
    tumoral     --low  
    correlated with the formation of metachronous distant metastasis in colorectal cancer, and multivariate analysis identified (downregulation is an independent negative prognostic parameter for patient survival)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS