Homo sapiens Protein: KRT17
Summary
InnateDB Protein IDBP-32532.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KRT17
Protein Name keratin 17
Synonyms K17; PC; PC2; PCHC1;
Species Homo sapiens
Ensembl Protein ENSP00000308452
InnateDB Gene IDBG-32530 (KRT17)
Protein Structure
UniProt Annotation
Function May play a role in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial "stem cells". May act as an autoantigen in the immunopathogenesis of psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation. Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state. Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway. Involved in tissue repair (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm {ECO:0000250}.
Disease Associations Pachyonychia congenita 2 (PC2) [MIM:167210]: 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. {ECO:0000269PubMed:10571744, ECO:0000269PubMed:11348474, ECO:0000269PubMed:11874497, ECO:0000269PubMed:11886499, ECO:0000269PubMed:15102078, ECO:0000269PubMed:15795125, ECO:0000269PubMed:16620218, ECO:0000269PubMed:16625196, ECO:0000269PubMed:7539673, ECO:0000269PubMed:9008238, ECO:0000269PubMed:9767294}. Note=The disease is caused by mutations affecting the gene represented in this entry.Steatocystoma multiplex (SM) [MIM:184500]: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. {ECO:0000269PubMed:16620218, ECO:0000269PubMed:9008238, ECO:0000269PubMed:9767294}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.
Tissue Specificity Expressed in the outer root sheath and medulla region of hair follicle specifically from eyebrow and beard, digital pulp, nail matrix and nail bed epithelium, mucosal stratified squamous epithelia and in basal cells of oral epithelium, palmoplantar epidermis and sweat and mammary glands. Also expressed in myoepithelium of prostate, basal layer of urinary bladder, cambial cells of sebaceous gland and in exocervix (at protein level). {ECO:0000269PubMed:10651700, ECO:0000269PubMed:10844551, ECO:0000269PubMed:1281771, ECO:0000269PubMed:2481679}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 42 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 42 [view]
Protein-Protein 42 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0032395 MHC class II receptor activity
GO:0042289 MHC class II protein binding
Biological Process
GO:0002009 morphogenesis of an epithelium
GO:0007165 signal transduction
GO:0008544 epidermis development
GO:0030307 positive regulation of cell growth
GO:0031424 keratinization
GO:0045109 intermediate filament organization
GO:0045727 positive regulation of translation
GO:0051798 positive regulation of hair follicle development
Cellular Component
GO:0005737 cytoplasm
GO:0005882 intermediate filament
GO:0070062 extracellular vesicular exosome
GO:0071944 cell periphery
Protein Structure and Domains
PDB ID
InterPro IPR001664 Intermediate filament protein
IPR002957 Keratin, type I
IPR009053 Prefoldin
PFAM PF00038
PRINTS PR01248
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q04695
PhosphoSite PhosphoSite-Q04695
TrEMBL K7ESE1
UniProt Splice Variant
Entrez Gene 3872
UniGene
RefSeq NP_000413
HUGO HGNC:6427
OMIM 148069
CCDS CCDS11402
HPRD 01019
IMGT
EMBL AC022596 AC130686 AK095342 AK304373 AL353997 BC000159 BC011901 BC056421 BC072018 BC072019 EF608068 EF608069 EF608070 EF608071 S78515 X62571 Z19574
GenPept AAB34565 AAH00159 AAH11901 AAH56421 AAH72018 AAH72019 ABQ96595 ABQ96596 ABQ96597 ABQ96598 BAC04534 BAG65211 CAA44451 CAA79626