Entity Details

Primary name K2C71_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ3SY84
EntryNameK2C71_HUMAN
FullNameKeratin, type II cytoskeletal 71
TaxID9606
Evidenceevidence at protein level
Length523
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesKRT71

GO terms

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GOName
GO:0005829 cytosol
GO:0031069 hair follicle morphogenesis
GO:0031424 keratinization
GO:0045095 keratin filament
GO:0045109 intermediate filament organization
GO:0070062 extracellular exosome
GO:0070268 cornification

Subcellular Location

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Subcellular Location
Cytoplasm

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
615896 OMIMHypotrichosis 13 (HYPT13)A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is an autosomal dominant form characterized by sparse woolly hair. The disease is caused by variants affecting the gene represented in this entry.