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FLASH GENE
Symbol NALCN contributors: mct/pgu - updated : 22-11-2013
HGNC name sodium leak channel, non-selective
HGNC id 19082
Corresponding disease
CLIFAHDD congenital contractures of the limbs and face, hypotonia, and developmental delay
IHPRF infantile hypotonia with psychomotor retardation and characteristic facies
Location 13q32.3      Physical location : 101.706.129 - 102.068.813
Synonym name
  • voltage gated channel like 1
  • four repeat voltage-gated ion channel
  • Synonym symbol(s) VGCNL1, CanIon, bA430M15.1, FLJ23913, FLJ44659, FLJ44764, MGC74524 2
    DNA
    TYPE functioning gene
    STRUCTURE 362.60 kb     44 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    44 - 6923 - 1738 - 2010 21099296
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately Homo sapiens
    Digestiveintestinesmall intestine  moderately
    Endocrinepancreas   moderately Homo sapiens
     thyroid   moderately Homo sapiens
    Lymphoid/Immunelymph node   moderately Homo sapiens
    Nervousbrain   highly Homo sapiens
     nervecranial nerve  highly
    Reproductivefemale systemovary  moderately
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  moderately
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text central nervous system
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to rattus Vgcnl1 (98.6 pc)
    homolog to murine Vgcnl1 (97.4 pc)
    Homologene
    FAMILY
  • 24-transmembrane domain (24-TM) ion channel superfamily
  • CATEGORY regulatory , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • mediating the entry of calcium ions into excitable cells
  • also involved in a variety of calcium-dependent processes, including muscle contraction, neurotransmitter release, gene expression, cell motility, cell division and cell death
  • nonselective cation channel, forming the background Na(+) leak conductance and controling neuronal excitability
  • has been shown to be responsible for the TTX-resistant sodium leak current implicated in the regulation of neuronal excitability
  • extracellular Ca(2+) influences neuronal excitability through the UNC79-UNC80-NALCN complex in a G protein-dependent fashion
  • is essential for the depolarization of clock neurons in the morning and the maintenance of normal circadian rhythms
  • role in conducting the background Na(+) current that depolarizes resting membrane properties of pacemaker neurons
  • can serves as a variable sensor that responds to calcium or sodium ion flux, depending on whether the total cellular current density is generated more from calcium-selective or sodium-selective channels
  • forms a voltage-independent ion channel with a role in the regulation of neuronal excitability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text ionic channel
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • UNC80 is a protein that is associated with the NALCN and is required for the activation of this channel by the neuropeptide substance P through GPCRs in a G-protein-independent fashion
  • UNC80 is a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex
  • cell & other
    REGULATION
    activated by M3 muscarinic receptors in a pancreatic beta-cell line
    Other permeant to sodium ions, dependent on Src activation and resistant to TTX
    ASSOCIATED DISORDERS
    corresponding disease(s) IHPRF , CLIFAHDD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Nalcn mutant mice have a severely disrupted respiratory rhythm and die within 24 hours of birth