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
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  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. [PubMed:2580298]
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  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. [PubMed:1717157]
  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. [PubMed:7526926]
  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. [PubMed:9457912]
  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. [PubMed:11684708]
  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. [PubMed:11724817]
  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. [PubMed:18691976]
  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. [PubMed:21269460]
  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. [PubMed:24275569]
  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. [PubMed:25944712]
  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. [PubMed:27798626]
  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. [PubMed:22705788]
  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. [PubMed:1720261]
  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. [PubMed:7506606]
  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. [PubMed:7682883]
  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. [PubMed:7688405]
  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. [PubMed:7526933]
  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. [PubMed:7506097]
  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. [PubMed:7561171]
  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. [PubMed:9284105]
  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. [PubMed:9804355]
  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. [PubMed:9804357]
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  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. [PubMed:12603865]
  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. [PubMed:14987259]
  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. [PubMed:16960809]
  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. [PubMed:16882168]
  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. [PubMed:16786515]
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Drug Relations

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