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FLASH GENE
Symbol CLCA1 contributors: mct - updated : 07-03-2016
HGNC name chloride channel, calcium activated, family member 1
HGNC id 2015
Location 1p22.3      Physical location : 86.934.525 - 86.965.972
Synonym symbol(s) CACC, CACC1, CLCRG1, CaCC-1, GOB5, hCLCA1, hCaCC-1
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 31.45 kb     14 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
MCOLN3 1p22.3 mucolipin 3 NYD-SP29 1p22.3 testis development protein NYD-SP29 FLJ13815 1p22.3 hypothetical protein FLJ13815 gm117 1p22.3 gm117 BCL10 1p22 B-cell CLL/lymphoma 10 DDAH1 1p22 dimethylarginine dimethylaminohydrolase 1 CYR61 1p31.p22 cysteine-rich, angiogenic inducer, 61 FLJ20729 1p22.3 hypothetical protein FLJ20729 COL24A1 1p22.3-p22.2 collagen, type XXIV, alpha 1 KIAA1229 1p22.3 KIAA1229 protein CLCA2 1p31-p22 chloride channel, calcium activated, family member 2 CLCA1 1p31-p22 chloride channel, calcium activated, family member 1 CLCA4 1p31-p22 chloride channel, calcium activated, family member 4 CLCA3 1p31-p22 chloride channel, calcium activated, family member 3 SH3GLB1 1p22 SH3-domain GRB2-like endophilin B1 LOC391052 1 similar to dJ612B15.1 (novel protein similar to 60S ribosomal protein L17 (RPL17)) SEP15 1p31 similar to dJ612B15.1 (novel protein similar to 60S ribosomal protein L17 (RPL17)) HS2ST1 1p31.1-p22.1 heparan sulfate 2-O-sulfotransferase 1 LOC388645 1 LOC388645 LMO4 1p22.3 LIM domain only 4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 3123 - 914 - 2005 15919655
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  moderately Homo sapiens
 intestinelarge intestinecolon moderately Homo sapiens
 intestine   moderately Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialabsorptive excretorydigestive epithelium (mucosa)  
Epithelialsecretoryglandularexocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivegoblet
Respiratorygoblet cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a consensus proteolytic cleavage site recognized by a novel zincin metalloprotease domain located within the N terminus of CLCA itself
  • a von Willebrand factor type A (VWA) domain within CLCA1 N-terminal fragment is necessary and sufficient for the interaction with ANO1
  • a signal peptide
  • four or five transmembrane segments
  • a large hydrophobic region at the C terminus
  • a 37 to 34kDa carboxy-terminal cleavage product to form an heterodimer
  • conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor 125kDa
    HOMOLOGY
    Homologene
    FAMILY calcium sensitive chloride conductance family of proteins
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • may be involved in secretory or absorptive processes
  • non-integral membrane proteins and therefore cannot be chloride channels in their own right
  • modulating the gastrointestinal phenotype of cystic fibrosis
  • play critical roles in epithelial secretion, sensory transduction and adaptation, regulation of smooth muscle contraction, control of neuronal and cardiac excitability, and nociception
  • elevates the single channel conductance of endogenous Ca(2+)-dependent Cl- channels by lowering the energy barriers for ion translocation through the pore
  • has an important role in the pathogenesis of respiratory disease such as asthma, chronic obstructive pulmonary disease (COPD) and cystic fibrosis (CF)
  • has important functions in cystic fibrosis-related intestinal obstruction
  • regulate both chloride transport and mucin expression, thus controlling the production of mucus in respiratory and other systems
  • regulating the transition from proliferation to differentiation in colorectal cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IL4, IL9, IL13 may increase CLCA1 expression in cystic fibrosis but may not have a significant effect on mucus expression
  • CLCA1 stabilizes TMEM16A on the cell surface, thus increasing surface expression, which results in increased calcium-dependent chloride currents
  • CLCA1 modulates the activity of the ANO1 by directly engaging the channel at the cell surface
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in colorectal cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • potential diagnostic marker for CRC prognosis
  • Therapy target
    ANIMAL & CELL MODELS