Keratin, type I cytoskeletal 9

Details

Name
Keratin, type I cytoskeletal 9
Synonyms
  • CK-9
  • Cytokeratin-9
  • K9
  • Keratin-9
Gene Name
KRT9
Organism
Humans
Amino acid sequence
>lcl|BSEQ0049840|Keratin, type I cytoskeletal 9
MSCRQFSSSYLSRSGGGGGGGLGSGGSIRSSYSRFSSSGGGGGGGRFSSSSGYGGGSSRV
CGRGGGGSFGYSYGGGSGGGFSASSLGGGFGGGSRGFGGASGGGYSSSGGFGGGFGGGSG
GGFGGGYGSGFGGFGGFGGGAGGGDGGILTANEKSTMQELNSRLASYLDKVQALEEANND
LENKIQDWYDKKGPAAIQKNYSPYYNTIDDLKDQIVDLTVGNNKTLLDIDNTRMTLDDFR
IKFEMEQNLRQGVDADINGLRQVLDNLTMEKSDLEMQYETLQEELMALKKNHKEEMSQLT
GQNSGDVNVEINVAPGKDLTKTLNDMRQEYEQLIAKNRKDIENQYETQITQIEHEVSSSG
QEVQSSAKEVTQLRHGVQELEIELQSQLSKKAALEKSLEDTKNRYCGQLQMIQEQISNLE
AQITDVRQEIECQNQEYSLLLSIKMRLEKEIETYHNLLEGGQEDFESSGAGKIGLGGRGG
SGGSYGRGSRGGSGGSYGGGGSGGGYGGGSGSRGGSGGSYGGGSGSGGGSGGGYGGGSGG
GHSGGSGGGHSGGSGGNYGGGSGSGGGSGGGYGGGSGSRGGSGGSHGGGSGFGGESGGSY
GGGEEASGSGGGYGGGSGKSSHS
Number of residues
623
Molecular Weight
62064.29
Theoretical pI
Not Available
GO Classification
Functions
structural constituent of cytoskeleton
Processes
cornification / epidermis development / intermediate filament organization / keratinization / skin development / spermatogenesis
Components
cytosol / extracellular exosome / extracellular space / intermediate filament / membrane / nucleus
General Function
May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.
Specific Function
Structural constituent of cytoskeleton
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Not Available
Gene sequence
>lcl|BSEQ0049841|Keratin, type I cytoskeletal 9 (KRT9)
ATGAGCTGCAGACAGTTCTCCTCGTCCTACTTGAGCCGCAGCGGCGGGGGTGGCGGGGGC
GGCCTGGGCAGCGGGGGCAGCATAAGGTCTTCCTACAGCCGCTTCAGCTCCTCAGGGGGC
GGTGGAGGAGGGGGCCGATTCAGCTCTTCTAGTGGCTATGGTGGGGGAAGCTCTCGTGTC
TGTGGGAGGGGAGGCGGTGGCAGTTTTGGCTACAGCTACGGCGGAGGATCTGGGGGTGGT
TTTAGTGCCAGTAGTTTAGGCGGTGGCTTTGGGGGTGGTTCCAGAGGTTTTGGTGGTGCT
TCTGGAGGAGGCTATAGTAGTTCTGGGGGTTTTGGAGGTGGCTTTGGTGGTGGTTCTGGA
GGTGGCTTTGGTGGTGGCTATGGGAGTGGGTTTGGGGGGTTTGGGGGCTTTGGAGGTGGT
GCTGGAGGAGGTGATGGTGGTATTCTGACTGCTAATGAGAAGAGCACCATGCAGGAACTC
AATTCTCGGCTGGCCTCTTACTTGGATAAGGTGCAGGCTCTAGAGGAGGCCAACAACGAC
CTGGAGAATAAGATCCAGGATTGGTACGACAAGAAGGGACCTGCTGCTATCCAGAAGAAC
TACTCCCCTTATTATAACACTATTGATGATCTCAAGGACCAGATTGTGGACCTGACAGTG
GGCAACAACAAAACTCTCCTGGACATTGACAACACTCGCATGACACTGGATGACTTCAGG
ATAAAGTTTGAGATGGAGCAAAACCTGCGGCAAGGAGTGGATGCTGACATCAATGGCCTG
CGGCAGGTGCTGGACAATCTGACCATGGAGAAGTCTGACCTGGAGATGCAGTATGAGACT
CTGCAGGAGGAGCTGATGGCCCTCAAGAAGAATCATAAGGAGGAGATGAGTCAGCTGACT
GGGCAGAACAGTGGAGATGTCAATGTGGAGATAAACGTTGCTCCTGGCAAAGATCTCACC
AAGACCCTCAATGACATGCGTCAGGAGTATGAGCAGCTCATTGCTAAGAACAGAAAGGAC
ATCGAGAATCAATATGAGACTCAGATAACCCAGATCGAGCATGAGGTATCCAGTAGTGGT
CAGGAGGTGCAGTCCAGTGCCAAGGAGGTGACCCAGCTCCGGCACGGTGTCCAGGAGTTG
GAGATTGAGCTGCAGTCTCAGCTCAGCAAGAAAGCAGCTCTGGAGAAGAGCTTGGAAGAC
ACGAAGAACCGCTACTGTGGCCAGCTGCAGATGATCCAGGAGCAGATCAGTAACTTGGAG
GCCCAGATCACTGACGTCCGGCAAGAGATCGAGTGCCAGAATCAGGAATACAGCCTTCTG
CTCAGCATTAAGATGCGGCTGGAGAAGGAAATCGAGACCTACCACAACCTCCTTGAGGGA
GGCCAGGAAGACTTTGAATCCTCCGGAGCTGGAAAAATTGGCCTTGGAGGTCGAGGAGGA
AGTGGAGGCAGTTATGGAAGAGGATCCAGGGGAGGAAGTGGAGGCAGCTATGGTGGAGGA
GGAAGTGGAGGTGGCTATGGTGGAGGAAGTGGGTCCAGGGGAGGAAGTGGAGGCAGCTAC
GGTGGAGGAAGTGGTTCTGGAGGAGGTAGTGGAGGTGGCTATGGTGGAGGAAGTGGAGGT
GGCCATAGCGGAGGAAGTGGAGGTGGTCATAGTGGAGGAAGTGGGGGCAACTATGGAGGA
GGAAGTGGCTCTGGAGGAGGAAGTGGGGGTGGCTATGGTGGAGGAAGTGGGTCCAGGGGA
GGAAGTGGAGGCAGCCATGGTGGAGGAAGTGGTTTTGGAGGTGAAAGTGGAGGCAGCTAC
GGAGGCGGTGAAGAAGCGAGTGGAAGTGGTGGCGGCTACGGAGGAGGAAGCGGAAAATCA
TCCCATTCCTAG
Chromosome Location
17
Locus
17q21.2
External Identifiers
ResourceLink
UniProtKB IDP35527
UniProtKB Entry NameK1C9_HUMAN
HGNC IDHGNC:6447
General References
  1. Langbein L, Heid HW, Moll I, Franke WW: Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression. Differentiation. 1993 Dec;55(1):57-71. [PubMed:7507869]
  2. Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schrock E, Royer-Pokora B, Franke WW, Sperling K, et al.: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet. 1994 Feb;6(2):174-9. [PubMed:7512862]
  3. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20;440(7087):1045-9. [PubMed:16625196]
  4. Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S: Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. FEBS Lett. 1996 May 20;386(2-3):149-55. [PubMed:8647270]
  5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  6. Rosen EM, Meromsky L, Romero R, Setter E, Goldberg I: Human placenta contains an epithelial scatter protein. Biochem Biophys Res Commun. 1990 May 16;168(3):1082-8. [PubMed:2140676]
  7. Kobayashi S, Kore-eda S, Tanaka T: Demonstration of the pathogenic effect of point mutated keratin 9 in vivo. FEBS Lett. 1999 Mar 19;447(1):39-43. [PubMed:10218578]
  8. Yamaguchi Y, Itami S, Tarutani M, Hosokawa K, Miura H, Yoshikawa K: Regulation of keratin 9 in nonpalmoplantar keratinocytes by palmoplantar fibroblasts through epithelial-mesenchymal interactions. J Invest Dermatol. 1999 Apr;112(4):483-8. [PubMed:10201533]
  9. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648]
  10. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [PubMed:21269460]
  11. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [PubMed:24275569]
  12. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [PubMed:25944712]
  13. Hennies HC, Zehender D, Kunze J, Kuster W, Reis A: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet. 1994 Jun;93(6):649-54. [PubMed:7516304]
  14. Bonifas JM, Matsumura K, Chen MA, Berth-Jones J, Hutchison PE, Zloczower M, Fritsch PO, Epstein EH Jr: Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Oct;103(4):474-7. [PubMed:7523529]
  15. Torchard D, Blanchet-Bardon C, Serova O, Langbein L, Narod S, Janin N, Goguel AF, Bernheim A, Franke WW, Lenoir GM, et al.: Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Nat Genet. 1994 Jan;6(1):106-10. [PubMed:7511021]
  16. Rothnagel JA, Wojcik S, Liefer KM, Dominey AM, Huber M, Hohl D, Roop DR: Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. J Invest Dermatol. 1995 Mar;104(3):430-3. [PubMed:7532199]
  17. Endo H, Hatamochi A, Shinkai H: A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. J Invest Dermatol. 1997 Jul;109(1):113-5. [PubMed:9204965]
  18. Covello SP, Irvine AD, McKenna KE, Munro CS, Nevin NC, Smith FJ, Uitto J, McLean WH: Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol. 1998 Dec;111(6):1207-9. [PubMed:9856842]
  19. Szalai S, Szalai C, Becker K, Torok E: Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma. Pediatr Dermatol. 1999 Nov-Dec;16(6):430-5. [PubMed:10632938]
  20. Warmuth I, Cserhalmi-Friedman PB, Schneiderman P, Grossman ME, Christiano AM: Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene. Clin Exp Dermatol. 2000 May;25(3):244-6. [PubMed:10844507]
  21. Kuster W, Reis A, Hennies HC: Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. Arch Dermatol Res. 2002 Aug;294(6):268-72. Epub 2002 Jul 2. [PubMed:12192490]
  22. Rugg EL, Common JE, Wilgoss A, Stevens HP, Buchan J, Leigh IM, Kelsell DP: Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. Br J Dermatol. 2002 Jun;146(6):952-7. [PubMed:12072061]
  23. Csikos M, Hollo P, Becker K, Racz E, Horvath A, Karpati S: Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma. Acta Derm Venereol. 2003;83(4):303-5. [PubMed:12926810]
  24. Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. Am J Med Genet A. 2003 Jul 30;120A(3):345-9. [PubMed:12838553]
  25. Lee JH, Ahn KS, Lee CH, Youn SJ, Kim JW, Lee DY, Lee ES, Steinert PM, Yang JM: Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. Exp Dermatol. 2003 Dec;12(6):876-81. [PubMed:14675368]
  26. He XH, Zhang XN, Mao W, Chen HP, Xu LR, Chen H, He XL, Le YP: A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. Br J Dermatol. 2004 Apr;150(4):647-51. [PubMed:15099359]
  27. Lin JH, Lin MH, Yang MH, Chao SC: A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma. Clin Exp Dermatol. 2004 May;29(3):308-10. [PubMed:15115518]
  28. Kon A, Itagaki K, Yoneda K, Takagaki K: A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma. Arch Dermatol Res. 2005 Feb;296(8):375-8. Epub 2004 Dec 17. [PubMed:15605275]
  29. Kon A, Ito N, Kudo Y, Nomura K, Yoneda K, Hanada K, Hashimoto I, Takagaki K: L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. Br J Dermatol. 2006 Sep;155(3):624-6. [PubMed:16911293]
  30. Shimazu K, Tsunemi Y, Hattori N, Saeki H, Komine M, Adachi M, Tamaki K: A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma. Int J Dermatol. 2006 Sep;45(9):1128-30. [PubMed:16961539]
  31. Shimomura Y, Wajid M, Weiser J, Kraemer L, Christiano AM: Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. Clin Exp Dermatol. 2010 Oct;35(7):759-64. doi: 10.1111/j.1365-2230.2009.03700.x. [PubMed:19874353]
  32. Wang K, He CD, Song F, Liu J, Chen HD: A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. Int J Dermatol. 2010 Nov;49(11):1342-4. doi: 10.1111/j.1365-4632.2009.04295.x. [PubMed:20964665]
  33. Du ZF, Wei W, Wang YF, Chen XL, Chen CY, Liu WT, Lu JJ, Mao LG, Xu CM, Fang H, Zhang XN: A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly. Eur J Dermatol. 2011 Sep-Oct;21(5):675-9. doi: 10.1684/ejd.2011.1458. [PubMed:21715251]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB09130Copperapproved, investigationalunknownDetails
DB01593Zincapproved, investigationalunknownDetails
DB14487Zinc acetateapproved, investigationalunknownDetails
DB14533Zinc chlorideapproved, investigationalunknownDetails