Description: Homo sapiens keratin 17 (KRT17), mRNA. RefSeq Summary (NM_000422): This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]. Transcript (Including UTRs) Position: hg19 chr17:39,775,692-39,780,882 Size: 5,191 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr17:39,775,846-39,780,761 Size: 4,916 Coding Exon Count: 8
ID:K1C17_HUMAN DESCRIPTION: RecName: Full=Keratin, type I cytoskeletal 17; AltName: Full=39.1; AltName: Full=Cytokeratin-17; Short=CK-17; AltName: Full=Keratin-17; Short=K17; 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). SUBUNIT: Heterodimer of a type I and a type II keratin. KRT17 associates with KRT6 isomers. Interacts with TRADD and SFN (By similarity). INTERACTION: Q15834:CCDC85B; NbExp=2; IntAct=EBI-297873, EBI-739674; SUBCELLULAR LOCATION: Cytoplasm (By similarity). 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). INDUCTION: Induced in damaged or stressed epidermis. Induced by the cytokines interferon-gamma (IFN-gamma), tumor necrosis factor alpha (TNF-alpha) and transforming growth factor-alpha (TGF- alpha), and by the potent NF-kappa B inhibitor compounds Bay 11- 7082 and Bay 11-7085. Down-regulated by the drug Imatinib. DISEASE: Defects in KRT17 are a cause of pachyonychia congenita type 2 (PC2) [MIM:167210]; also known as pachyonychia congenita Jackson-Lawler type. PC2 is 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. DISEASE: Defects in KRT17 are a cause of steatocystoma multiplex (SM) [MIM:184500]. SM is a disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. DISEASE: Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris. MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). SIMILARITY: Belongs to the intermediate filament family. SEQUENCE CAUTION: Sequence=AAH72018.1; Type=Frameshift; Positions=109; WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT17"; WEB RESOURCE: Name=Wikipedia; Note=Keratin-17 entry; URL="http://en.wikipedia.org/wiki/Keratin_17";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q04695
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: 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:0031069 hair follicle morphogenesis GO:0031424 keratinization GO:0045109 intermediate filament organization GO:0045727 positive regulation of translation GO:0051798 positive regulation of hair follicle development GO:0070268 cornification
US Server
