AlphaFold predicted structure
ANO1 · Q5XXA6

Mean pLDDT
76.6/ 100
Confident
986 residues
Confidence breakdown
- Very high(≥ 90)29%
- Confident(70–90)46%
- Low(50–70)11%
- Very low(< 50)15%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
anoctamin 1
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Cerebral vascular malformations
BOTH monoallelic and biallelic, autosomal or pseudoautosomalGastrointestinal epithelial barrier disorders
BIALLELIC, autosomal or pseudoautosomalInfantile enterocolitis & monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalIntestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalmoyamoya disease 7
Diarrhea
Abnormality of the skeletal system
colorectal cancer
thrombophilia
diverticular disease
COVID-19
intestinal dysmotility syndrome
cholelithiasis
hypertensive disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Anoctamin-1
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)
ANO1 · Q5XXA6

Mean pLDDT
76.6/ 100
Confident
986 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0