ANO1

ANO1
Identifiers
Aliases	ANO1, DOG1, ORAOV2, TAOS2, TMEM16A, anoctamin 1
External IDs	OMIM: 610108 MGI: 2142149 HomoloGene: 75079 GeneCards: ANO1
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.3 Start 69,985,907 bp[1] End 70,189,530 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F5 Start 144,142,286 bp[2] End 144,305,711 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in caput epididymis seminal vesicula corpus epididymis parotid gland ascending aorta gallbladder gastric mucosa right coronary artery lactiferous duct right uterine tube Top expressed in parotid gland wall of urinary bladder mucosa of urinary bladder left colon submandibular gland seminal vesicula lacrimal gland left lung lobe right lung lobe coelomic epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function calcium activated cation channel activity protein dimerization activity protein binding voltage-gated chloride channel activity chloride channel activity iodide transmembrane transporter activity intracellular calcium activated chloride channel activity Cellular component cytoplasm integral component of membrane membrane plasma membrane chloride channel complex apical plasma membrane extracellular exosome Biological process cation transport ion transport detection of temperature stimulus involved in sensory perception of pain multicellular organism development phospholipase C-activating G protein-coupled receptor signaling pathway ion transmembrane transport iodide transport chloride transport cation transmembrane transport regulation of anion transmembrane transport transport cellular response to heat positive regulation of insulin secretion involved in cellular response to glucose stimulus chloride transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55107 101772 Ensembl ENSG00000131620 ENSMUSG00000031075 UniProt Q5XXA6 Q8BHY3 RefSeq (mRNA) NM_018043 NM_001378092 NM_001378093 NM_001378094 NM_001378095 NM_001378096 NM_001378097 NM_001242349 NM_178642 RefSeq (protein) NP_060513 NP_001365021 NP_001365022 NP_001365023 NP_001365024 NP_001365025 NP_001365026 NP_001229278 NP_848757 Location (UCSC) Chr 11: 69.99 – 70.19 Mb Chr 7: 144.14 – 144.31 Mb PubMed search [3] [4]
Wikidata
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Anoctamin-1 (ANO1), also known as Transmembrane member 16A (TMEM16A), is a protein that, in humans, is encoded by the ANO1 gene.^[5][6] Anoctamin-1 is a voltage-gated calcium-activated anion channel, which acts as a chloride channel^[7] and a bicarbonate channel.^[8] additionally Anoctamin-1 is apical iodide channel. It is expressed in smooth muscle, epithelial cells,^[9] vomeronasal neurons,^[10] olfactory sustentacular cells,^[11] and is highly expressed in interstitial cells of Cajal (ICC) throughout the gastrointestinal tract.^[12]

Function

ANO1 is a transmembrane protein that functions as a calcium-activated chloride channel.^[13] Ca²⁺, Sr²⁺, and Ba²⁺ activate the channel.^[14]

Structure

No atomic resolution structure of this channel has yet been obtained.^[15] However, biochemical evidence suggests that the channel assembles as a dimer of two ANO1 polypeptide subunits.^[16][17] From hydropathy plotting, each subunit is thought to encode a molecule with eight transmembrane domains, with a reentrant loop between the fifth and sixth transmembrane domains. The reentrant loop is thought to be a P loop-like structure responsible for the ion selectivity of the protein.^[18]

Clinical significance

In mice, the functional expression of the ANO1 channel is essential to life, as its absence leads to a premature death due to respiratory collapse.^[19]

ANO1 is expressed in the gastrointestinal tract and is highly expressed in interstitial cells of Cajal, where it plays an important role in pacemaker activity, neurotransduction of enteric motor neurotransmitters and regulation of gastrointestinal motility.^[12][20][9] ANO1 blockers like niflumic acid have been shown to block slow waves, which produce phasic contractions and the major patterns of gastrointestinal motility, such as peristalsis and segmentation.^[12][20] ANO1-knockout mice fail to produce slow waves altogether.^[12][20] Carbachol has been shown to markedly activate the channel due to its effect on release of Ca2+ from intracellular stores.^[12][20] ANO1 activation is necessary for normal function of ICC and generation of normal patterns of activity in smooth muscles of the gastrointestinal tract.^[12][20]

Its overexpression was reported in esophageal squamous cell carcinoma and breast cancer progression.^[21][22]

References

Further reading

External links

• Human ANO1 genome location and ANO1 gene details page in the UCSC Genome Browser.