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FLASH GENE
Symbol ACCN1 contributors: mct/npt - updated : 11-05-2010
HGNC name amiloride-sensitive cation channel 1, neuronal
HGNC id 99
Location 17q11.2      Physical location : 31.340.107 - 32.483.825
Synonym name
  • acid-sensing ion channel 2
  • degenerin
  • brain sodium channel 1
  • mammalian degenerin homolog
  • Synonym symbol(s) MDEG1, BNC1, ASIC2, ASIC2A, BNAC1, ACCN
    DNA
    TYPE functioning gene
    STRUCTURE 1143.72 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • presence of a number of transcription factor-binding sites and a 404 bp CpG island upstream the transcription start site
  • MAPPING cloned Y linked N status confirmed
    regionally located close to D17S798
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3470 - 563 - Chai (2007)
    10 - 2747 58 512 - Chai (2007)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
    Gustatorytonguetaste buds   
    Nervousbrain    
    Reproductivefemale systembreastmammary gland  
     female systemovary   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorygustatory  
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • intracellular N and C terminus
  • two putative (N and C terminus region) transmembrane segments (TM2)
  • a large extracellular loop with nine cysteine residues scattered into three rich domains
  • mono polymer homomer
    HOMOLOGY
    interspecies homolog to murine Accn1
    Homologene
    FAMILY
  • amiloride-sensitive sodium channels superfamily
  • degenerin family
  • CATEGORY tumor suppressor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • colocalizing with ACCN3
  • lanceolate nerve endings that lie adjacent to and surround hair follicle
  • basic FUNCTION
  • neuronal amiloride-sensitive cation (non voltage-dependent) channel 1, also permeable to Na+, K+, LI+ required for normal touch sensation, involved in cell death
  • may play an important role in the pathogenesis of multiple sclerosis (Bernardinelli 2007)
  • distributed throughout the nervous system and potentially involved in mechanosensation, hearing, vision, and taste functions (Malysz 2008)
  • H(+)-gated amiloride-sensitive cation channel, potential glioma tumor suppressor gene (Vandepoele 2008)
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    synaptic transmission
    a component
  • may be a central component of a mechanosensory complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • variant 1 (ASIC2A) interacting with ACCN3 to form a protein-gated channel sensitive to gadolinium
  • through C- terminus interact with protein interacting with C kinase (PICK)1, which targets PKC to the plasma membrane (Bashari 2009)
  • cell & other
    REGULATION
    activated by extracellular proteins
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupting the NBPF1 and ACCN1 (Vandepoele 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS