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FLASH GENE
Symbol SMAP1 contributors: mct - updated : 25-08-2011
HGNC name small ArfGAP 1
HGNC id 19651
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one arf-gap domain
  • three ankyrin repeats
  • a putative transmembrane region
  • one ph domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Smap1
    intraspecies homolog to SMAP2
    Homologene
    FAMILY ADP ribosylation factor family, SMAP gene family
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    text type II membrane glycoprotein
    basic FUNCTION
  • involved in the erythropoietic stimulatory activity of stromal cells
  • GTP-ase activating protein
  • activity of SMAP1 in E-cadherin turnover may be involved in epithelial organization and/or epithelial-mesenchymal transition
  • in cells, SMAP1 regulates ARFf6-dependent endocytosis of transferrin receptors from the coated pits of the plasma membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • directly interacts with clathrin and regulates the clathrin-dependent endocytosis of transferrin receptors from the plasma membrane
  • with SMAP2, bind to clathrin heavy chains and are involved in the trafficking of clathrin-coated vesicles
  • can bind to clathrin, and regulates clathrin-dependent endocytosis of transferrin receptor and E-cadherin molecules
  • interacts with ARF6, but not ARF1
  • cell & other
    REGULATION
    induced by contact with erythroid cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   translocation    
    t(6;10)(q13;q22) in a patient with severe aplastic anaemia suggets that SMAP1 is a candidate gene for theses disorders
    Susceptibility
    Variant & Polymorphism
    Candidate gene for haematologic disorders related to haematopoiesis
    Marker
    Therapy target
    ANIMAL & CELL MODELS