Entity Details

Primary name K2C4_HUMAN
Entity type UniProt
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Details

AccessionP19013
EntryNameK2C4_HUMAN
FullNameKeratin, type II cytoskeletal 4
TaxID9606
Evidenceevidence at protein level
Length520
SequenceStatuscomplete
DateCreated1990-11-01
DateModified2021-06-02

Ontological Relatives

GenesKRT4

GO terms

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GOName
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0007010 cytoskeleton organization
GO:0009986 cell surface
GO:0030855 epithelial cell differentiation
GO:0031424 keratinization
GO:0045095 keratin filament
GO:0045111 intermediate filament cytoskeleton
GO:0050680 negative regulation of epithelial cell proliferation
GO:0070268 cornification

Subcellular Location

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Domains

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DomainNameCategoryType
IPR003054 Keratin, type IIFamilyFamily
IPR018039 Intermediate filament protein, conserved siteSiteConserved site
IPR032444 Keratin type II headDomainDomain
IPR039008 Intermediate filament, rod domainDomainDomain

Diseases

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Disease IDSourceNameDescription
193900 OMIMWhite sponge nevus 1 (WSN1)A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. The disease is caused by variants affecting the gene represented in this entry.