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FLASH GENE
Symbol CLNS1A contributors: mct/ - updated : 30-08-2011
HGNC name chloride channel, nucleotide-sensitive, 1A
HGNC id 2080
Location 11q14.1      Physical location : 77.327.196 - 77.348.851
Synonym name
  • chloride ion current inducer protein
  • methylosome subunit pICln
  • reticulocyte pICln
    • Synonym symbol(s) CLC1, ICLN1A, ICLN, CLNS1B, plClN
    DNA
    TYPE functioning gene
    STRUCTURE 21.66 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1378 26 237 - 1998 9524223
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary  predominantly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four putative transmembrane domains (4TM)
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Clns1a
    Homologene
    FAMILY
  • pICln family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • can be found in the cytosol and is associated with the cell membrane
    • basic FUNCTION
  • chloride channel nucleotide sensitive,swelling-dependent outwardly rectifying
  • volume regulation after cytoplasmic swelling
  • multifunctional protein involved in regulatory mechanisms as different as membrane ion transport and RNA splicing
  • multifunctional protein with functions in cell volume regulation and RNA processing, and is thus part of an intricate protein network critically involved in the homoeostasis of cells
  • essential protein whose functions include binding to Sm proteins in the cytoplasm of human cells and mediating the ordered and regulated assembly of the cell RNA-splicing machinery by the survival motor neurons complex
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimerizing to form a potential pore
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with LSM4
  • also interacts with PRMT5, the enzyme responsible for generating symmetric dimethylarginine modifications on the C-terminal regions of three of the canonical Sm proteins
  • RIOK1 and CLNS1A might bind to the same site in PRMT5 and thus compete for binding
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS