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FLASH GENE
Symbol SAMSN1 contributors: mct - updated : 27-08-2012
HGNC name SAM domain, SH3 domain and nuclear localisation signals, 1
HGNC id 10528
Location 21q11.2      Physical location : 15.857.548 - 15.918.664
Synonym name
  • hematopoietic adaptor containing SH3 and SAM domains 1
  • nulear localization signal, sterile alpha motif and SH3 domain protein
  • SAM and SH3 domain containing 2
  • SH3-SAM adaptor protein
  • SH3 protein expressed in lymphocytes 2
  • Synonym symbol(s) HACS1, SSN1, NASH1, SH3D6B, SLY2
    DNA
    TYPE functioning gene
    STRUCTURE 98.17 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    C21orf99 21q22.1 chromosome 21 open reading frame 99 VN1R8P 21q11 vomeronasal 1 receptor 8 pseudogene LOC391264 21 similar to Sorting nexin 19 ANKRD21 21q11.2 ankyrin repeat domain 21 LOC391265 21 similar to cDNA sequence BC021523 LOC388810 21 hypothetical gene supported by AL834140 LOC343720 21q11.2 similar to fem-1 homolog a (C.elegans) TERF1P 21 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene LOC391266 21 similar to h2-calponin CYP4F3LP 21p11 cytochrome P450, family 4, subfamily F, polypeptide 3-like pseudogene LOC391267 21 similar to SNAG1 LOC388812 21 similar to Ankyrin repeat domain protein 18A C21orf81 21q22.1 chromosome 21 open reading frame 81 LOC391268 21 similar to KIAA0685 protein LOC391269 21 similar to hypothetical protein DKFZp434A171 LOC375108 21q11.2 membrane-associated phospholipase A1 beta RBM11 21q11 RNA binding motif protein 11 ABCC13 21q11.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 STCH 21q11.2 stress 70 protein chaperone, microsome-associated, 60kDa SAMSN1 21q11 SAM domain, SH3 domain and nuclear localisation signals, 1 LOC388813 21 LOC388813 POLR2CP 21q11.2 polymerase (RNA) II (DNA directed) polypeptide C, pseudogene NRIP1 21q11.2 nuclear receptor interacting protein 1 LOC388814 21 LOC388814 HCP42 21q11.2 cytochrome c, somatic pseudogene USP25 21q11.2 ubiquitin specific protease 25
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2202 - 441 - -
    8 - 1922 41 373 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Endocrinepancreas     Homo sapiens
    Nervousbrain     Homo sapiens
    Respiratorylung     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  predominantly Homo sapiens
    Muscularstriatumskeletal   Homo sapiens
    Muscularstriatumcardiac   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    cell lineage mast cells lineage
    cell lines acute myeloid leukemia and multiple myeloma cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one SRC homology 3 domain
  • one sterile alpha motif (SAM)
  • one nuclear localization signal (NLS)
  • HOMOLOGY
    interspecies ortholog to rattus Samsn1 (82.4pc)
    ortholog to murine Samsn1 (83.2pc)
    intraspecies homolog to KIAA0790 protein
    Homologene
    FAMILY
    CATEGORY adaptor , chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • may acting as a cytoplasmic adaptor to mediate a signaling pathway
  • participating in B-cell activation and differentiation
  • may be functioning as a signaling component of mast cells, possibly in the nucleus
  • potential immunoinhibitory adaptor that might be a useful target for immune suppression
  • implicated in the epigenetic control of gene expression
  • induces RAC1-dependent membrane ruffle formation and regulates cell spreading and polarization and its SH3 domain is essential for these effects
  • physiological up-regulation of SAMSN1 observed upon B cell activation functions to counteract excessive B cell spreading
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • involved the NFKB pathway
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • phosphorylated SAMSN1 directly interacts with 14-3-3 proteins via a previously unrecognized phosphorylation site
  • in the nucleus, interacts with the SAP30/HDAC1 complex and regulates the activity of HDAC1
  • actin nucleation-promoting factor cortactin is an SH3 domain-directed interaction partner of SAMSN1
  • cell & other
    REGULATION
    Other upregulation by IL4 was STAT6 dependent
    upregulated by B-cell activation signals
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in human lung cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS