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MGP005372

UniProt Annotations

Entry Information
Gene Nameanoctamin 1, calcium activated chloride channel
Protein EntryANO1_HUMAN
UniProt IDQ5XXA6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5XXA6-1; Sequence=Displayed; Name=2; IsoId=Q5XXA6-2; Sequence=VSP_025665, VSP_025668, VSP_025669; Note=No experimental confirmation available.; Name=3; IsoId=Q5XXA6-3; Sequence=VSP_025666, VSP_025667, VSP_025668, VSP_025669, VSP_025670, VSP_025671; Note=No experimental confirmation available.;
DomainThe region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region. {ECO:0000250}.
Enzyme RegulationATP and calmodulin are essential for its activation. Channel activity is inhibited by CFTR protein and by chloride inhibitors such as niflumic acid (NFA) and 4,4'- diisothiocyanatostilbene-2,2'-disulfonic acid (DIDS). {ECO:0000269|PubMed:22178883}.
FunctionCalcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development. {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:21984732, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:22946059}.
MiscellaneousThe term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.
SimilarityBelongs to the anoctamin family. {ECO:0000305}.
Subcellular LocationCell membrane; Multi-pass membrane protein. Cytoplasm. Note=Cytoplasmic localization seen in neoplastic cells of head and neck squamous cell carcinoma (HNSCC) tumors.
SubunitHomodimer. Interacts with CFTR. {ECO:0000269|PubMed:21056985, ECO:0000269|PubMed:22178883}.
Tissue SpecificityBroadly expressed with higher levels in liver, skeletal muscle and gastrointestinal muscles. {ECO:0000269|PubMed:15215166, ECO:0000269|PubMed:16906560}.
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