Entity Details

Primary name K2C6C_HUMAN
Entity type UniProt
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Details

AccessionP48668
EntryNameK2C6C_HUMAN
FullNameKeratin, type II cytoskeletal 6C
TaxID9606
Evidenceevidence at protein level
Length564
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesKRT6C

GO terms

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GOName
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0031424 keratinization
GO:0045095 keratin filament
GO:0045104 intermediate filament cytoskeleton organization
GO:0070062 extracellular exosome
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
615735 OMIMPalmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD)A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. The disease is caused by variants affecting the gene represented in this entry.