InnateDB Protein
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IDBP-32532.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KRT17
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Protein Name
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keratin 17
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Synonyms
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K17; PC; PC2; PCHC1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000308452
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InnateDB Gene
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IDBG-32530 (KRT17)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm {ECO:0000250}.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
42
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
6 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001664
Intermediate filament protein
IPR002957
Keratin, type I
IPR009053
Prefoldin
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PFAM |
PF00038
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PRINTS |
PR01248
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q04695
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PhosphoSite |
PhosphoSite-Q04695
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TrEMBL |
K7ESE1
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UniProt Splice Variant |
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Entrez Gene |
3872
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UniGene |
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RefSeq |
NP_000413
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HUGO |
HGNC:6427
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OMIM |
148069
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CCDS |
CCDS11402
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HPRD |
01019
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IMGT |
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EMBL |
AC022596
AC130686
AK095342
AK304373
AL353997
BC000159
BC011901
BC056421
BC072018
BC072019
EF608068
EF608069
EF608070
EF608071
S78515
X62571
Z19574
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GenPept |
AAB34565
AAH00159
AAH11901
AAH56421
AAH72018
AAH72019
ABQ96595
ABQ96596
ABQ96597
ABQ96598
BAC04534
BAG65211
CAA44451
CAA79626
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