Misplaced Pages

KRT17
Identifiers
Aliases	KRT17, K17, PC, PC2, PCHC1, 39.1, CK-17, keratin 17
External IDs	OMIM: 148069; MGI: 96691; HomoloGene: 363; GeneCards: KRT17; OMA:KRT17 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.2 Start 41,619,442 bp End 41,624,842 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 D|11 63.44 cM Start 100,147,043 bp End 100,151,855 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gingival epithelium olfactory zone of nasal mucosa amniotic fluid vulva skin of thigh hair follicle skin of arm skin of abdomen nipple buccal mucosa cell Top expressed in lip molar skin of back epidermis hair follicle skin of external ear skin of abdomen thymus corneal stroma hair More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural constituent of cytoskeleton MHC class II receptor activity protein binding structural molecule activity MHC class II protein binding Cellular component cytoplasm extracellular exosome intermediate filament cell periphery cytosol intermediate filament cytoskeleton Biological process morphogenesis of an epithelium positive regulation of hair follicle development hair follicle morphogenesis intermediate filament organization positive regulation of cell growth positive regulation of translation signal transduction epidermis development keratinization cornification cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3872 16667 Ensembl ENSG00000128422 ENSMUSG00000035557 UniProt Q04695 Q9QWL7 RefSeq (mRNA) NM_000422 NM_010663 RefSeq (protein) NP_000413 NP_034793 Location (UCSC) Chr 17: 41.62 – 41.62 Mb Chr 11: 100.15 – 100.15 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the KRT17 gene.

Keratin 17 is a type I cytokeratin. It is found in nail beds, hair follicles, sebaceous glands, and other epidermal appendages. Mutations in the gene encoding this protein lead to PC-K17 (previously known as Jackson-Lawler) type pachyonychia congenita and steatocystoma multiplex.

Interactions

Keratin 17 has been shown to interact with CCDC85B.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000128422 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000035557 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C (Jul 1995). "Keratin 16 and keratin 17 mutations cause pachyonychia congenita". Nat Genet. 9 (3): 273–8. doi:10.1038/ng0395-273. PMID 7539673. S2CID 1873772.
6. Troyanovsky SM, Leube RE, Franke WW (Jan 1993). "Characterization of the human gene encoding cytokeratin 17 and its expression pattern". Eur J Cell Biol. 59 (1): 127–37. PMID 1281771.
7. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". J Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
8. ^ "Entrez Gene: KRT17 keratin 17".
9. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Further reading

• Flohr T, Buwitt U, Bonnekoh B, Decker T, Böttger EC (1992). "Interferon-gamma regulates expression of a novel keratin class I gene". Eur. J. Immunol. 22 (4): 975–9. doi:10.1002/eji.1830220415. PMID 1372562. S2CID 85892865.
• Trask DK, Band V, Zajchowski DA, Yaswen P, Suh T, Sager R (1990). "Keratins as markers that distinguish normal and tumor-derived mammary epithelial cells". Proc. Natl. Acad. Sci. U.S.A. 87 (6): 2319–23. Bibcode:1990PNAS...87.2319T. doi:10.1073/pnas.87.6.2319. PMC 53678. PMID 1690428.
• Kartasova T, Cornelissen BJ, Belt P, van de Putte P (1987). "Effects of UV, 4-NQO and TPA on gene expression in cultured human epidermal keratinocytes". Nucleic Acids Res. 15 (15): 5945–62. doi:10.1093/nar/15.15.5945. PMC 306060. PMID 2442723.
• Takahashi K, Folmer J, Coulombe PA (1994). "Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin". J. Cell Biol. 127 (2): 505–20. doi:10.1083/jcb.127.2.505. PMC 2120213. PMID 7523421.
• Munro CS, Carter S, Bryce S, Hall M, Rees JL, Kunkeler L, Stephenson A, Strachan T (1995). "A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21". J. Med. Genet. 31 (9): 675–8. doi:10.1136/jmg.31.9.675. PMC 1050075. PMID 7529318.
• Leigh IM, Navsaria H, Purkis PE, McKay IA, Bowden PE, Riddle PN (1995). "Keratins (K16 and K17) as markers of keratinocyte hyperproliferation in psoriasis in vivo and in vitro". Br. J. Dermatol. 133 (4): 501–11. doi:10.1111/j.1365-2133.1995.tb02696.x. PMID 7577575. S2CID 85097321.
• Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH (1997). "Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex". J. Invest. Dermatol. 108 (2): 220–3. doi:10.1111/1523-1747.ep12335315. PMID 9008238.
• Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH (1999). "Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2". Br. J. Dermatol. 139 (3): 475–80. doi:10.1046/j.1365-2133.1998.02413.x. PMID 9767294. S2CID 22421872.
• McGowan KM, Coulombe PA (1998). "Onset of keratin 17 expression coincides with the definition of major epithelial lineages during skin development". J. Cell Biol. 143 (2): 469–86. doi:10.1083/jcb.143.2.469. PMC 2132846. PMID 9786956.
• Schön M, Benwood J, O'Connell-Willstaedt T, Rheinwald JG (1999). "Human sweat gland myoepithelial cells express a unique set of cytokeratins and reveal the potential for alternative epithelial and mesenchymal differentiation states in culture". J. Cell Sci. 112 (12): 1925–36. doi:10.1242/jcs.112.12.1925. PMID 10341211.
• Celebi JT, Tanzi EL, Yao YJ, Michael EJ, Peacocke M (1999). "Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2". J. Invest. Dermatol. 113 (5): 848–50. doi:10.1046/j.1523-1747.1999.00762.x. PMID 10571744.
• Smith FJ, Coleman CM, Bayoumy NM, Tenconi R, Nelson J, David A, McLean WH (2001). "Novel keratin 17 mutations in pachyonychia congenita type 2". J. Invest. Dermatol. 116 (5): 806–8. doi:10.1046/j.0022-202x.2001.doc.x. PMID 11348474.
• Suzuki H, Fukunishi Y, Kagawa I, Saito R, Oda H, Endo T, Kondo S, Bono H, Okazaki Y, Hayashizaki Y (2001). "Protein-protein interaction panel using mouse full-length cDNAs". Genome Res. 11 (10): 1758–65. doi:10.1101/gr.180101. PMC 311163. PMID 11591653.
• Hashiguchi T, Yotsumoto S, Shimada H, Terasaki K, Setoyama M, Kobayashi K, Saheki T, Kanzaki T (2002). "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2". J. Invest. Dermatol. 118 (3): 545–7. doi:10.1046/j.0022-202x.2001.01701.x. PMID 11874497.
• Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH (2002). "Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita". J. Invest. Dermatol. 117 (6): 1391–6. doi:10.1046/j.0022-202x.2001.01565.x. PMID 11886499.
• Scherl A, Couté Y, Déon C, Callé A, Kindbeiter K, Sanchez JC, Greco A, Hochstrasser D, Diaz JJ (2003). "Functional proteomic analysis of human nucleolus". Mol. Biol. Cell. 13 (11): 4100–9. doi:10.1091/mbc.E02-05-0271. PMC 133617. PMID 12429849.
• van de Rijn M, Perou CM, Tibshirani R, Haas P, Kallioniemi O, Kononen J, Torhorst J, Sauter G, Zuber M, Köchli OR, Mross F, Dieterich H, Seitz R, Ross D, Botstein D, Brown P (2003). "Expression of cytokeratins 17 and 5 identifies a group of breast carcinomas with poor clinical outcome". Am. J. Pathol. 161 (6): 1991–6. doi:10.1016/S0002-9440(10)64476-8. PMC 1850928. PMID 12466114.

External links

• GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita

This article on a gene on human chromosome 17 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 17
• Keratins
• Human chromosome 17 gene stubs