Entity Details

Primary name K1C17_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ04695
EntryNameK1C17_HUMAN
FullNameKeratin, type I cytoskeletal 17
TaxID9606
Evidenceevidence at protein level
Length432
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesKRT17

GO terms

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GOName
GO:0005198 structural molecule activity
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0030307 positive regulation of cell growth
GO:0031069 hair follicle morphogenesis
GO:0031424 keratinization
GO:0045109 intermediate filament organization
GO:0045111 intermediate filament cytoskeleton
GO:0045727 positive regulation of translation
GO:0051798 positive regulation of hair follicle development
GO:0070268 cornification
GO:0071944 cell periphery

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR002957 Keratin, type IFamilyFamily
IPR018039 Intermediate filament protein, conserved siteSiteConserved site
IPR039008 Intermediate filament, rod domainDomainDomain

Diseases

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Disease IDSourceNameDescription
184500 OMIMSteatocystoma multiplex (SM)Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. The disease is caused by variants affecting the gene represented in this entry.
167210 OMIMPachyonychia congenita 2 (PC2)An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. The disease is caused by variants affecting the gene represented in this entry.