Entity Details

Primary name CCD50_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IVM0
EntryNameCCD50_HUMAN
FullNameCoiled-coil domain-containing protein 50
TaxID9606
Evidenceevidence at protein level
Length306
SequenceStatuscomplete
DateCreated2005-08-16
DateModified2021-06-02

Ontological Relatives

GenesCCDC50

GO terms

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GOName
GO:0005829 cytosol
GO:0007605 sensory perception of sound
GO:0031625 ubiquitin protein ligase binding

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR029311 Coiled-coil domain-containing protein 50, N-terminalDomainDomain
IPR039303 Coiled-coil domain-containing protein 50FamilyFamily

Diseases

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Disease IDSourceNameDescription
607453 OMIMDeafness, autosomal dominant, 44 (DFNA44)A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. The disease is caused by variants affecting the gene represented in this entry.