Entity Details

Primary name ANO3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BYT9
EntryNameANO3_HUMAN
FullNameAnoctamin-3
TaxID9606
Evidenceevidence at transcript level
Length981
SequenceStatuscomplete
DateCreated2004-01-16
DateModified2021-06-02

Ontological Relatives

GenesANO3

GO terms

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GOName
GO:0005254 chloride channel activity
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0034220 ion transmembrane transport
GO:0046983 protein dimerization activity
GO:0055085 transmembrane transport
GO:0061588 calcium activated phospholipid scrambling
GO:1902476 chloride transmembrane transport

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR007632 AnoctaminFamilyFamily
IPR031292 Anoctamin-3FamilyFamily
IPR032394 Anoctamin, dimerisation domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615034 OMIMDystonia 24 (DYT24)A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

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