Keratin, type II cytoskeletal 5

Details

Name
Keratin, type II cytoskeletal 5
Synonyms
  • 58 kDa cytokeratin
  • CK-5
  • Cytokeratin-5
  • K5
  • Keratin-5
  • Type-II keratin Kb5
Gene Name
KRT5
Organism
Humans
Amino acid sequence
>lcl|BSEQ0049884|Keratin, type II cytoskeletal 5
MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGY
GSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGG
AGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQRVRTEEREQIKTLNNKFA
SFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRL
DSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEI
NFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIANRSRTEAESW
YQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQR
GELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECR
LSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGV
GLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVKFVSTTSSSRKSFKS
Number of residues
590
Molecular Weight
62377.985
Theoretical pI
Not Available
GO Classification
Functions
scaffold protein binding / structural constituent of cytoskeleton
Processes
cornification / epidermis development / hemidesmosome assembly / keratinization
Components
cytoplasm / cytosol / extracellular exosome / intermediate filament / keratin filament / membrane / mitochondrion / nucleus / plasma membrane
General Function
Not Available
Specific Function
Scaffold protein binding
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Not Available
Gene sequence
>lcl|BSEQ0049885|Keratin, type II cytoskeletal 5 (KRT5)
ATGTCTCGCCAGTCAAGTGTGTCCTTCCGGAGCGGGGGCAGTCGTAGCTTCAGCACCGCC
TCTGCCATCACCCCGTCTGTCTCCCGCACCAGCTTCACCTCCGTGTCCCGGTCCGGGGGT
GGCGGTGGTGGTGGCTTCGGCAGGGTCAGCCTTGCGGGTGCTTGTGGAGTGGGTGGCTAT
GGCAGCCGGAGCCTCTACAACCTGGGGGGCTCCAAGAGGATATCCATCAGCACTAGTGGT
GGCAGCTTCAGGAACCGGTTTGGTGCTGGTGCTGGAGGCGGCTATGGCTTTGGAGGTGGT
GCCGGTAGTGGATTTGGTTTCGGCGGTGGAGCTGGTGGTGGCTTTGGGCTCGGTGGCGGA
GCTGGCTTTGGAGGTGGCTTCGGTGGCCCTGGCTTTCCTGTCTGCCCTCCTGGAGGTATC
CAAGAGGTCACTGTCAACCAGAGTCTCCTGACTCCCCTCAACCTGCAAATCGACCCCAGC
ATCCAGAGGGTGAGGACCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATAAGTTTGCC
TCCTTCATCGACAAGGTGCGGTTCCTGGAGCAGCAGAACAAGGTTCTGGACACCAAGTGG
ACCCTGCTGCAGGAGCAGGGCACCAAGACTGTGAGGCAGAACCTGGAGCCGTTGTTCGAG
CAGTACATCAACAACCTCAGGAGGCAGCTGGACAGCATCGTGGGGGAACGGGGCCGCCTG
GACTCAGAGCTGAGAAACATGCAGGACCTGGTGGAAGACTTCAAGAACAAGTATGAGGAT
GAAATCAACAAGCGTACCACTGCTGAGAATGAGTTTGTGATGCTGAAGAAGGATGTAGAT
GCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATT
AACTTCATGAAGATGTTCTTTGATGCGGAGCTGTCCCAGATGCAGACGCATGTCTCTGAC
ACCTCAGTGGTCCTCTCCATGGACAACAACCGCAACCTGGACCTGGATAGCATCATCGCT
GAGGTCAAGGCCCAGTATGAGGAGATTGCCAACCGCAGCCGGACAGAAGCCGAGTCCTGG
TATCAGACCAAGTATGAGGAGCTGCAGCAGACAGCTGGCCGGCATGGCGATGACCTCCGC
AACACCAAGCATGAGATCTCTGAGATGAACCGGATGATCCAGAGGCTGAGAGCCGAGATT
GACAATGTCAAGAAACAGTGCGCCAATCTGCAGAACGCCATTGCGGATGCCGAGCAGCGT
GGGGAGCTGGCCCTCAAGGATGCCAGGAACAAGCTGGCCGAGCTGGAGGAGGCCCTGCAG
AAGGCCAAGCAGGACATGGCCCGGCTGCTGCGTGAGTACCAGGAGCTCATGAACACCAAG
CTGGCCCTGGACGTGGAGATCGCCACTTACCGCAAGCTGCTGGAGGGCGAGGAATGCAGA
CTCAGTGGAGAAGGAGTTGGACCAGTCAACATCTCTGTTGTCACAAGCAGTGTTTCCTCT
GGATATGGCAGTGGCAGTGGCTATGGCGGTGGCCTCGGTGGAGGTCTTGGCGGCGGCCTC
GGTGGAGGTCTTGCCGGAGGTAGCAGTGGAAGCTACTACTCCAGCAGCAGTGGGGGTGTC
GGCCTAGGTGGTGGGCTCAGTGTGGGGGGCTCTGGCTTCAGTGCAAGCAGTGGCCGAGGG
CTGGGGGTGGGCTTTGGCAGTGGCGGGGGTAGCAGCTCCAGCGTCAAATTTGTCTCCACC
ACCTCCTCCTCCCGGAAGAGCTTCAAGAGCTAA
Chromosome Location
12
Locus
12q13.13
External Identifiers
ResourceLink
UniProtKB IDP13647
UniProtKB Entry NameK2C5_HUMAN
HGNC IDHGNC:6442
General References
  1. Eckert RL, Rorke EA: The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins. DNA. 1988 Jun;7(5):337-45. [PubMed:2456903]
  2. Lersch R, Stellmach V, Stocks C, Giudice G, Fuchs E: Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control. Mol Cell Biol. 1989 Sep;9(9):3685-97. [PubMed:2476664]
  3. Whittock NV, Eady RA, McGrath JA: Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. Biochem Biophys Res Commun. 2000 Jul 21;274(1):149-52. [PubMed:10903910]
  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. [PubMed:15489334]
  5. Lersch R, Fuchs E: Sequence and expression of a type II keratin, K5, in human epidermal cells. Mol Cell Biol. 1988 Jan;8(1):486-93. [PubMed:2447486]
  6. Xu Z, Dong H, Sun X, Zhu X, Yang Y: A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. Clin Exp Dermatol. 2004 Jan;29(1):74-6. [PubMed:14723728]
  7. Galup C, Darmon MY: Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin. J Invest Dermatol. 1988 Jul;91(1):39-42. [PubMed:2455002]
  8. Nishizawa M, Izawa I, Inoko A, Hayashi Y, Nagata K, Yokoyama T, Usukura J, Inagaki M: Identification of trichoplein, a novel keratin filament-binding protein. J Cell Sci. 2005 Mar 1;118(Pt 5):1081-90. [PubMed:15731013]
  9. 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]
  10. 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]
  11. 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]
  12. 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]
  13. Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, Eady RA: A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature. 1992 Mar 19;356(6366):244-6. [PubMed:1372711]
  14. Dong W, Ryynanen M, Uitto J: Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex. Hum Mutat. 1993;2(2):94-102. [PubMed:7686424]
  15. Wanner R, Forster HH, Tilmans I, Mischke D: Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12. J Invest Dermatol. 1993 Jun;100(6):735-41. [PubMed:7684424]
  16. 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]
  17. Chan YM, Yu QC, Fine JD, Fuchs E: The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7414-8. [PubMed:7688477]
  18. Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E: Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. J Cell Sci. 1994 Apr;107 ( Pt 4):765-74. [PubMed:7520042]
  19. Stephens K, Zlotogorski A, Smith L, Ehrlich P, Wijsman E, Livingston RJ, Sybert VP: Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. Am J Hum Genet. 1995 Mar;56(3):577-85. [PubMed:7534039]
  20. Matsuki M, Hashimoto K, Yoshikawa K, Yasuno H, Yamanishi K: Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5. Hum Mol Genet. 1995 Oct;4(10):1999-2000. [PubMed:8595431]
  21. Humphries MM, Mansergh FC, Kiang AS, Jordan SA, Sheils DM, Martin MJ, Farrar GJ, Kenna PF, Young MM, Humphries P: Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland. Hum Mutat. 1996;8(1):57-63. [PubMed:8807337]
  22. Nomura K, Shimizu H, Meng X, Umeki K, Tamai K, Sawamura D, Nagao K, Kawakami T, Nishikawa T, Hashimoto I: A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol. 1996 Aug;107(2):253-4. [PubMed:8757772]
  23. Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T Jr, Fine JD, Fuchs E: The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):9079-84. [PubMed:8799157]
  24. Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert VP: Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. J Invest Dermatol. 1997 Mar;108(3):349-53. [PubMed:9036937]
  25. Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes AE: A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. J Invest Dermatol. 1997 Dec;109(6):815-6. [PubMed:9406827]
  26. Galligan P, Listwan P, Siller GM, Rothnagel JA: A novel mutation in the L12 domain of keratin 5 in the Kobner variant of epidermolysis bullosa simplex. J Invest Dermatol. 1998 Sep;111(3):524-7. [PubMed:9740251]
  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]
  28. Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF: Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Am J Med Genet. 1999 Oct 8;86(4):376-9. [PubMed:10494094]
  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. [PubMed:9989794]
  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. [PubMed:10730767]
  31. Liovic M, Podrumac B, Dragos V, Vouk K, Komel R: K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne). Hum Hered. 2000 Jul-Aug;50(4):234-6. [PubMed:10782015]
  32. Liovic M, Stojan J, Bowden PE, Gibbs D, Vahlquist A, Lane EB, Komel R: A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. J Invest Dermatol. 2001 Jun;116(6):964-9. [PubMed:11407988]
  33. Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H: Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. J Biol Chem. 2002 Jun 28;277(26):23670-4. Epub 2002 Apr 24. [PubMed:11973334]
  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. [PubMed:12707098]
  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. [PubMed:12655565]
  36. Gu LH, Kim SC, Ichiki Y, Park J, Nagai M, Kitajima Y: A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. J Invest Dermatol. 2003 Sep;121(3):482-5. [PubMed:12925204]
  37. Li JG, Feng J, Xiao SX, Ai YL, Wang JM, Peng ZH: A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. Clin Exp Dermatol. 2004 Sep;29(5):539-41. [PubMed:15347343]
  38. Liovic M, Bowden PE, Marks R, Komel R: A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. Exp Dermatol. 2004 May;13(5):332-4. [PubMed:15140024]
  39. Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nothen MM, Magin TM, Kruse R: Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet. 2006 Mar;78(3):510-9. Epub 2006 Jan 19. [PubMed:16465624]
  40. 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]
  41. 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]
  42. Garcia M, Santiago JL, Terron A, Hernandez-Martin A, Vicente A, Fortuny C, De Lucas R, Lopez JC, Cuadrado-Corrales N, Holguin A, Illera N, Duarte B, Sanchez-Jimeno C, Llames S, Garcia E, Ayuso C, Martinez-Santamaria L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escamez MJ, Del Rio M: Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. [PubMed:21623745]

Drug Relations

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