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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
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