Entity Details

Primary name CCD78_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionA2IDD5
EntryNameCCD78_HUMAN
FullNameCoiled-coil domain-containing protein 78
TaxID9606
Evidenceevidence at protein level
Length438
SequenceStatuscomplete
DateCreated2007-06-26
DateModified2021-06-02

Ontological Relatives

GenesCCDC78

GO terms

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GOName
GO:0003009 skeletal muscle contraction
GO:0005814 centriole
GO:0016529 sarcoplasmic reticulum
GO:0030030 cell projection organization
GO:0042383 sarcolemma
GO:0048471 perinuclear region of cytoplasm
GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation
GO:0098536 deuterosome

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm
Sarcoplasmic reticulum

Domains

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DomainNameCategoryType
IPR029329 Domain of unknown function DUF4472DomainDomain
IPR039873 Coiled-coil domain-containing protein 78FamilyFamily

Diseases

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Disease IDSourceNameDescription
614807 OMIMMyopathy, centronuclear, 4 (CNM4)A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
CCD78_HUMANINCA1_HUMANBioGRID, IntAct32296183 details
CCD78_HUMANCASS4_HUMANIntAct31413325 details
CCD78_HUMANHEY1_HUMANBioGRID27129302 details