Entity Details

Primary name DSC3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14574
EntryNameDSC3_HUMAN
FullNameDesmocollin-3
TaxID9606
Evidenceevidence at protein level
Length896
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesDSC3

GO terms

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GOName
GO:0001533 cornified envelope
GO:0001701 in utero embryonic development
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030057 desmosome
GO:0031424 keratinization
GO:0045295 gamma-catenin binding
GO:0050821 protein stabilization
GO:0070268 cornification
GO:0098609 cell-cell adhesion

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane

Domains

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DomainNameCategoryType
IPR000233 Cadherin, cytoplasmic domainDomainDomain
IPR002126 Cadherin-likeDomainDomain
IPR009122 Desmosomal cadherinFamilyFamily
IPR014868 Cadherin prodomainDomainDomain
IPR015919 Cadherin-like superfamilyFamilyHomologous superfamily
IPR020894 Cadherin conserved siteSiteConserved site
IPR027397 Catenin binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613102 OMIMHypotrichosis and recurrent skin vesicles (HRSV)A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions