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FLASH GENE
Symbol SMAP1 contributors: mct - updated : 25-08-2011
HGNC name small ArfGAP 1
HGNC id 19651
Location 6q13      Physical location : 71.377.478 - 71.571.714
Synonym name
  • stromal membrane-associated protein SMAP1A
  • membrane-associated protein SMAP1B
  • stromal membrane-associated protein 1
  • Synonym symbol(s) FLJ13159, SMAP-1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE antisens
    text antisense to B3GAT2 over 10043 bp
    STRUCTURE 194.24 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    BAI3 6q12 brain-specific angiogenesis inhibitor 3 C6orf209 6q13 chromosome 6 open reading frame 209 COL19A1 6q12-q13 collagen, type XIX, alpha 1 COL9A1 6q12-q13 collagen, type IX, alpha 1 LOC389409 6 LOC389409 KIAA1411 6q12-q13 KIAA1411 C6orf57 6q12 chromosome 6 open reading frame 57 LOC285783 6q13 similar to spermine synthase; spermidine aminopropyltransferase SMAP1 6q12-q13 stromal membrane-associated protein 1 B3GAT2 6q12 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) LOC157713 6q13 lysophospholipase I-like OGFRL1 6q13 opioid growth factor receptor-like 1 C6orf155 6q13 chromosome 6 open reading frame 155 LOC391941 6 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene RIMS1 6q12-q13 regulating synaptic membrane exocytosis 1 LOC340167 6q14.1 similar to hypothetical protein DKFZp434A1315 KCNQ5 6q14 potassium voltage-gated channel, KQT-like subfamily, member 5 C6orf148 6q13 chromosome 6 open reading frame 148 EIF3S6P1 6q13 eukaryotic translation initiation factor 3, subunit 6 48kDa pseudogene 1 LOC391942 6 similar to syntenin-2alpha LOC391943 6 similar to Multifunctional protein ADE2 LOC340168 6q14.1 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 LOC154288 6q14.1 similar to RIKEN cDNA 2410004A20 RPL39P3 6q14.1 ribosomal protein L39 pseudogene 3 DDX43 6q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 C6orf150 6q13 chromosome 6 open reading frame 150 MTO1 6q14.1 mitochondrial translation optimization 1 homolog (S. cerevisiae)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3344 - 467 - 2002 12119110
    10 - 3263 - 440 - 2002 12119110
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach    
    Endocrineadrenal gland    
     thyroid    
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
    Nervousbrain    
     spinal cord    
    Respiratoryrespiratory tracttrachea   
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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