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MGP005379

UniProt Annotations

Entry Information
Gene Nameanoctamin 10
Protein EntryANO10_HUMAN
UniProt IDQ9NW15
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9NW15-1; Sequence=Displayed; Name=2; IsoId=Q9NW15-2; Sequence=VSP_026033; Note=No experimental confirmation available.; Name=3; IsoId=Q9NW15-3; Sequence=VSP_038212; Note=No experimental confirmation available.; Name=4; IsoId=Q9NW15-4; Sequence=VSP_038211; Note=No experimental confirmation available.; Name=5; IsoId=Q9NW15-5; Sequence=VSP_045885; Note=No experimental confirmation available. Ref.1 (BAG60264) sequence is in conflict in position: 607:S->P. {ECO:0000305};
DiseaseSpinocerebellar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:21092923}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionDoes not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. {ECO:0000269|PubMed:20056604, 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.
Sequence CautionSequence=BAA91573.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=BC038855; Type=Frameshift; Positions=42; Evidence={ECO:0000305};
SimilarityBelongs to the anoctamin family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22075693, ECO:0000269|PubMed:22946059}; Multi- pass membrane protein {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22075693, ECO:0000269|PubMed:22946059}. Note=Shows predominantly an intracellular localization with a weak expression in the cell membrane.
Tissue SpecificityHighly expressed in the brain. Intermediate levels in the retina and heart and low levels in the placenta, liver, lung, duodenum, kidney, testis and spleen. In brain areas, highest expression in the frontal and occipital cortices and in the cerebellum. Lower expression in the fetal brain than in the adult brain. {ECO:0000269|PubMed:21092923}.
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