Keratin, type I cytoskeletal 14

Details

Name
Keratin, type I cytoskeletal 14
Synonyms
  • CK-14
  • Cytokeratin-14
  • K14
  • Keratin-14
Gene Name
KRT14
Organism
Humans
Amino acid sequence
>lcl|BSEQ0049880|Keratin, type I cytoskeletal 14
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSG
GACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQ
NLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTAT
VDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRK
DAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLE
ETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLE
GEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN
Number of residues
472
Molecular Weight
51561.075
Theoretical pI
Not Available
GO Classification
Functions
keratin filament binding / structural constituent of cytoskeleton
Processes
aging / cornification / epidermis development / hair cycle / hemidesmosome assembly / intermediate filament bundle assembly / keratinization / response to ionizing radiation / response to zinc ion
Components
basal part of cell / cell periphery / cytoplasm / cytosol / extracellular exosome / intermediate filament / keratin filament / nucleus
General Function
The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.
Specific Function
Keratin filament binding
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Cytoplasm
Gene sequence
>lcl|BSEQ0049881|Keratin, type I cytoskeletal 14 (KRT14)
ATGACCACCTGCAGCCGCCAGTTCACCTCCTCCAGCTCCATGAAGGGCTCCTGCGGCATC
GGGGGCGGCATCGGGGGCGGCTCCAGCCGCATCTCCTCCGTCCTGGCCGGAGGGTCCTGC
CGCGCCCCCAGCACCTACGGGGGCGGCCTGTCTGTCTCATCCTCCCGCTTCTCCTCTGGG
GGAGCCTACGGGCTGGGGGGCGGCTATGGCGGTGGCTTCAGCAGCAGCAGCAGCAGCTTT
GGTAGTGGCTTTGGGGGAGGATATGGTGGTGGCCTTGGTGCTGGCTTGGGTGGTGGCTTT
GGTGGTGGCTTTGCTGGTGGTGATGGGCTTCTGGTGGGCAGTGAGAAGGTGACCATGCAG
AACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCTCTGGAGGAGGCCAAC
GCCGACCTGGAAGTGAAGATCCGTGACTGGTACCAGAGGCAGCGGCCTGCTGAGATCAAA
GACTACAGTCCCTACTTCAAGACCATTGAGGACCTGAGGAACAAGATTCTCACAGCCACA
GTGGACAATGCCAATGTCCTTCTGCAGATTGACAATGCCCGTCTGGCCGCGGATGACTTC
CGCACCAAGTATGAGACAGAGTTGAACCTGCGCATGAGTGTGGAAGCCGACATCAATGGC
CTGCGCAGGGTGCTGGACGAACTGACCCTGGCCAGAGCTGACCTGGAGATGCAGATTGAG
AGCCTGAAGGAGGAGCTGGCCTACCTGAAGAAGAACCACGAGGAGGAGATGAATGCCCTG
AGAGGCCAGGTGGGTGGAGATGTCAATGTGGAGATGGACGCTGCACCTGGCGTGGACCTG
AGCCGCATTCTGAACGAGATGCGTGACCAGTATGAGAAGATGGCAGAGAAGAACCGCAAG
GATGCCGAGGAATGGTTCTTCACCAAGACAGAGGAGCTGAACCGCGAGGTGGCCACCAAC
AGCGAGCTGGTGCAGAGCGGCAAGAGCGAGATCTCGGAGCTCCGGCGCACCATGCAGAAC
CTGGAGATTGAGCTGCAGTCCCAGCTCAGCATGAAAGCATCCCTGGAGAACAGCCTGGAG
GAGACCAAAGGTCGCTACTGCATGCAGCTGGCCCAGATCCAGGAGATGATTGGCAGCGTG
GAGGAGCAGCTGGCCCAGCTCCGCTGCGAGATGGAGCAGCAGAACCAGGAGTACAAGATC
CTGCTGGACGTGAAGACGCGGCTGGAGCAGGAGATCGCCACCTACCGCCGCCTGCTGGAG
GGCGAGGACGCCCACCTCTCCTCCTCCCAGTTCTCCTCTGGATCGCAGTCATCCAGAGAT
GTGACCTCCTCCAGCCGCCAAATCCGCACCAAGGTCATGGATGTGCACGATGGCAAGGTG
GTGTCCACCCACGAGCAGGTCCTTCGCACCAAGAACTGA
Chromosome Location
17
Locus
17q21.2
External Identifiers
ResourceLink
UniProtKB IDP02533
UniProtKB Entry NameK1C14_HUMAN
HGNC IDHGNC:6416
General References
  1. Marchuk D, McCrohon S, Fuchs E: Remarkable conservation of structure among intermediate filament genes. Cell. 1984 Dec;39(3 Pt 2):491-8. [Article]
  2. Marchuk D, McCrohon S, Fuchs E: Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene. Proc Natl Acad Sci U S A. 1985 Mar;82(6):1609-13. [Article]
  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. [Article]
  4. 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. [Article]
  5. Hanukoglu I, Fuchs E: The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins. Cell. 1982 Nov;31(1):243-52. [Article]
  6. Chan YM, Cheng J, Gedde-Dahl T Jr, Niemi KM, Fuchs E: Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol. 1996 Feb;106(2):327-34. [Article]
  7. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E: Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell. 1991 Sep 20;66(6):1301-11. [Article]
  8. Yamanishi K, Matsuki M, Konishi K, Yasuno H: A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. Hum Mol Genet. 1994 Jul;3(7):1171-2. [Article]
  9. Bowden PE, Hainey SD, Parker G, Jones DO, Zimonjic D, Popescu N, Hodgins MB: Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. J Invest Dermatol. 1998 Feb;110(2):158-64. [Article]
  10. Inada H, Izawa I, Nishizawa M, Fujita E, Kiyono T, Takahashi T, Momoi T, Inagaki M: Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD. J Cell Biol. 2001 Oct 29;155(3):415-26. Epub 2001 Oct 29. [Article]
  11. Bousquet O, Ma L, Yamada S, Gu C, Idei T, Takahashi K, Wirtz D, Coulombe PA: The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro. J Cell Biol. 2001 Nov 26;155(5):747-54. Epub 2001 Nov 26. [Article]
  12. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. doi: 10.1016/j.molcel.2008.07.007. [Article]
  13. 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. [Article]
  14. 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. [Article]
  15. 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. [Article]
  16. Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X: Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet. 2016 Dec;48(12):1508-1516. doi: 10.1038/ng.3701. Epub 2016 Oct 31. [Article]
  17. Lee CH, Kim MS, Chung BM, Leahy DJ, Coulombe PA: Structural basis for heteromeric assembly and perinuclear organization of keratin filaments. Nat Struct Mol Biol. 2012 Jun 17;19(7):707-15. doi: 10.1038/nsmb.2330. [Article]
  18. Bonifas JM, Rothman AL, Epstein EH Jr: Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science. 1991 Nov 22;254(5035):1202-5. [Article]
  19. Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH Jr: A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375. Hum Mol Genet. 1993 Nov;2(11):1971-2. [Article]
  20. Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P: A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. Hum Mutat. 1993;2(1):37-42. [Article]
  21. Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A: A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. J Invest Dermatol. 1993 Aug;101(2):240-3. [Article]
  22. Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M: A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Nat Genet. 1993 Apr;3(4):327-32. [Article]
  23. Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB: Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. Nat Genet. 1993 Nov;5(3):294-300. [Article]
  24. Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH Jr: Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. J Invest Dermatol. 1995 Oct;105(4):629-32. [Article]
  25. Hu ZL, Smith L, Martins S, Bonifas JM, Chen H, Epstein EH Jr: Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote. J Invest Dermatol. 1997 Sep;109(3):360-4. [Article]
  26. Shemanko CS, Mellerio JE, Tidman MJ, Lane EB, Eady RA: Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). J Invest Dermatol. 1998 Nov;111(5):893-5. [Article]
  27. Muller FB, Kuster W, Bruckner-Tuderman L, Korge BP: Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. J Invest Dermatol. 1998 Nov;111(5):900-2. [Article]
  28. Sasaki Y, Shimizu H, Akiyama M, Hiraoka Y, Takizawa Y, Yamada S, Morishima Y, Yamanishi K, Aiso S, Nishikawa T: A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. Br J Dermatol. 1999 Oct;141(4):747-8. [Article]
  29. Sorensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N: Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol. 1999 Feb;112(2):184-90. [Article]
  30. Shemanko CS, Horn HM, Keohane SG, Hepburn N, Kerr AI, Atherton DJ, Tidman MJ, Lane EB: Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. Br J Dermatol. 2000 Feb;142(2):315-20. [Article]
  31. Hut PH, v d Vlies P, Jonkman MF, Verlind E, Shimizu H, Buys CH, Scheffer H: Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. J Invest Dermatol. 2000 Apr;114(4):616-9. [Article]
  32. Rugg EL, Baty D, Shemanko CS, Magee G, Polak S, Bergman R, Kadar T, Boxer M, Falik-Zaccai T, Borochowitz Z, Lane EB: DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. Prenat Diagn. 2000 May;20(5):371-7. [Article]
  33. Cummins RE, Klingberg S, Wesley J, Rogers M, Zhao Y, Murrell DF: Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. J Invest Dermatol. 2001 Nov;117(5):1103-7. [Article]
  34. Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E: Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol. 2003 Apr;139(4):498-505. [Article]
  35. Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H: Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. Hum Mutat. 2003 Apr;21(4):447. [Article]
  36. Wood P, Baty DU, Lane EB, McLean WH: Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. J Invest Dermatol. 2003 Mar;120(3):495-7. [Article]
  37. Csikos M, Szalai Z, Becker K, Sebok B, Schneider I, Horvath A, Karpati S: Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. Exp Dermatol. 2004 Mar;13(3):185-91. [Article]
  38. Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E: Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct;79(4):724-30. Epub 2006 Aug 25. [Article]
  39. Yasukawa K, Sawamura D, Goto M, Nakamura H, Jung SY, Kim SC, Shimizu H: Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. Br J Dermatol. 2006 Aug;155(2):313-7. [Article]
  40. Muller FB, Kuster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ: Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. Hum Mutat. 2006 Jul;27(7):719-20. [Article]
  41. Jankowski M, Wertheim-Tysarowska K, Jakubowski R, Sota J, Nowak W, Czajkowski R: Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype. Exp Dermatol. 2014 Sep;23(9):684-7. doi: 10.1111/exd.12478. [Article]

Drug Relations

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