ANO1
entrez
55107
canonical
uniprot
Q5XXA6
canonical
ensembl
ENSG00000131620
resolver
ensp
ENSP00000319477
resolver
ensp
ENSP00000347454
resolver
ensp
ENSP00000432843
resolver
ensp
ENSP00000600723
resolver
ensp
ENSP00000600724
resolver
ensp
ENSP00000669648
resolver
ensp
ENSP00000743972
resolver
genesymbol
ANO1
resolver
genesymbol_syn
DOG1
resolver
genesymbol_syn
ORAOV2
resolver
genesymbol_syn
TAOS2
resolver
genesymbol_syn
TMEM16A
resolver
hgnc
HGNC:21625
resolver
uniprot
A0A2H4Y9B2
resolver
uniprot
A8KAM3
resolver
uniprot
E9PNA7
resolver
uniprot
Q8IYY8
resolver
uniprot
Q8N7V3
resolver
uniprot
Q9NW72
resolver
uniprot_entry
ANO1_HUMAN
resolver
uniprot_entry
Q9NW72_HUMAN
resolver
uniprot_sec
A0A2H4Y9B2
resolver
uniprot_sec
A8KAM3
resolver
uniprot_sec
E9PNA7
resolver
uniprot_sec
Q8IYY8
resolver
uniprot_sec
Q8N7V3
resolver
activity_regulation
ACTIVITY REGULATION: ATP 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). Activated by heat with activation seen at temperatures above 44 degrees Celsius (By similarity). Activated by BDNF in radial glial cells (By similarity). {ECO:0000250|UniProtKB:Q8BHY3, ECO:0000269|PubMed:22178883}.
uniprot
proteins
amino_acid_sequence
MRVNEKYSTLPAEDRSVHIINICAIEDIGYLPSEGTLLNSLSVDPDAECKYGLYFRDGRRKVDYILVYHHKRPSGNRTLVRRVQHSDTPSGARSVKQDHPLPGKGASLDAGSGEPPMDYHEDDKRFRREEYEGNLLEAGLELERDEDTKIHGVGFVKIHAPWNVLCREAEFLKLKMPTKKMYHINETRGLLKKINSVLQKITDPIQPKVAEHRPQTMKRLSYPFSREKQHLFDLSDKDSFFDSKTRSTIVYEILKRTTCTKAKYSMGITSLLANGVYAAAYPLHDGDYNGENVEFNDRKLLYEEWARYGVFYKYQPIDLVRKYFGEKIGLYFAWLGVYTQMLIPASIVGIIVFLYGCATMDENIPSMEMCDQRHNITMCPLCDKTCSYWKMSSACATARASHLFDNPATVFFSVFMALWAATFMEHWKRKQMRLNYRWDLTGFEEEEEAVKDHPRAEYEARVLEKSLKKESRNKEKRRHIPEESTNKWKQRVKTAMAGVKLTDKVKLTWRDRFPAYLTNLVSIIFMIAVTFAIVLGVIIYRISMAAALAMNSSPSVRSNIRVTVTATAVIINLVVIILLDEVYGCIARWLTKIEVPKTEKSFEERLIFKAFLLKFVNSYTPIFYVAFFKGRFVGRPGDYVYIFRSFRMEECAPGGCLMELCIQLSIIMLGKQLIQNNLFEIGIPKMKKLIRYLKLKQQSPPDHEECVKRKQRYEVDYNLEPFAGLTPEYMEMIIQFGFVTLFVASFPLAPLFALLNNIIEIRLDAKKFVTELRRPVAVRAKDIGIWYNILRGIGKLAVIINAFVISFTSDFIPRLVYLYMYSKNGTMHGFVNHTLSSFNVSDFQNGTAPNDPLDLGYEVQICRYKDYREPPWSENKYDISKDFWAVLAARLAFVIVFQNLVMFMSDFVDWVIPDIPKDISQQIHKEKVLMVELFMREEQDKQQLLETWMEKERQKDEPPCNHHNTKACPDSLGSPAPSHAYHGGVL
uniprot
proteins
disease_involvement
DISEASE: Intestinal dysmotility syndrome (IDMTS) [MIM:620045]: An autosomal recessive disorder characterized by impaired intestinal peristalsis, recurrent episodes of haemorrhagic diarrhea, and distention of intestinal loops. Intestinal and hepatic portal venous gas, dysmorphic features, and developmental delay may also be present. {ECO:0000269|PubMed:32487539}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Moyamoya disease 7 (MYMY7) [MIM:620687]: A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY7 inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:37253099}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium-activated chloride channel (CaCC) (PubMed:20056604, PubMed:22178883, PubMed:22946059, PubMed:32487539). 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. Required for CFTR activation by enhancing endoplasmic reticulum Ca(2+) store release and is also required for CFTR membrane expression (PubMed:28963502). Required for basal and ATP-dependent mucus secretion in airways and intestine, probably by controlling exocytosis of mucus-filled granules by providing Ca(2+) to an apical signaling compartment (By similarity). Contributes to airway mucus expression induced by interleukins IL3 and IL8 and by the asthma-associated protein CLCA1 and is required for expression of mucin MUC5AC (PubMed:33026825). However, was shown in another study not to be required for MUC5AC expression (PubMed:31732694). Plays a role in the propagation of Ca(2+) waves in Kolliker's organ in the cochlea and contributes to the refinement of auditory brainstem circuitries prior to hearing onset (By similarity). In vomeronasal sensory neurons, modulates spontaneous firing patterns in the absence of stimuli as well as the firing pattern of pheromone-evoked activity (By similarity). Responsible for calcium-activated chloride channel activity in type I taste cells of the vallate papillae (By similarity). Acts as a heat sensor in nociceptive neurons (By similarity). In dorsal root ganglion neurons, plays a role in mediating non-histaminergic Mas-related G protein-coupled receptor (MRGPR)-dependent itching, acting as a downstream effector of MRGPRs (By similarity). In the developing brain, required for the Ca(2+)-dependent process extension of radial glial cells (By similarity). {ECO:0000250|UniProtKB:Q8BHY3, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:22946059, ECO:0000269|PubMed:28963502, ECO:0000269|PubMed:31732694, ECO:0000269|PubMed:32487539, ECO:0000269|PubMed:33026825, ECO:0000269|PubMed:37253099}.; FUNCTION: [Isoform 4]: Calcium-activated chloride channel (CaCC). Contributes to calcium-activated chloride secretion in human sweat gland epithelial cells. Shows increased basal chloride permeability and decreased Ca(2+)-induced chloride permeability. {ECO:0000269|PubMed:25220078}.; FUNCTION: [Isoform 5]: Calcium-activated chloride channel (CaCC). Shows increased sensitivity to intracellular Ca(2+). {ECO:0000269|PubMed:26359375}.
uniprot
proteins
mass_dalton
114078
uniprot
proteins
protein_family
Anoctamin family
uniprot
proteins
pubmed
12739008
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15215166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16906560
uniprot
proteins
pubmed
20056604
uniprot
proteins
pubmed
21056985
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22178883
uniprot
proteins
pubmed
22946059
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24913262
uniprot
proteins
pubmed
25220078
uniprot
proteins
pubmed
26359375
uniprot
proteins
pubmed
28559167
uniprot
proteins
pubmed
28963502
uniprot
proteins
pubmed
31732694
uniprot
proteins
pubmed
32487539
uniprot
proteins
pubmed
33026825
uniprot
proteins
pubmed
37253099
uniprot
proteins
sequence_length
986
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:15215166, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:22946059, ECO:0000269|PubMed:28559167, ECO:0000269|PubMed:31732694, ECO:0000269|PubMed:32487539}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8BHY3}. Presynapse {ECO:0000250|UniProtKB:Q8BHY3}. Note=In differentiating airway epithelial cells, predominantly intracellular at day 0 but is apically localized by day 30. Expressed in the presynapse of retinal neurons (By similarity). {ECO:0000250|UniProtKB:Q8BHY3}.
uniprot
proteins
transmembrane_region
TRANSMEM 334..354; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 407..427; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 520..540; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 569..589; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 608..628; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 658..678; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 726..746; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 747..767; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 785..805; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3"; TRANSMEM 893..913; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q8BHY3
uniprot
proteins