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FLASH GENE
Symbol CLNS1A contributors: mct/ - updated : 30-08-2011
HGNC name chloride channel, nucleotide-sensitive, 1A
HGNC id 2080
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