Keratin, type II cytoskeletal 1

Details

Name
Keratin, type II cytoskeletal 1
Kind
protein
Synonyms
  • 67 kDa cytokeratin
  • CK-1
  • Cytokeratin-1
  • Hair alpha protein
  • K1
  • Keratin-1
  • KRTA
  • Type-II keratin Kb1
Gene Name
KRT1
UniProtKB Entry
P04264Swiss-Prot
Organism
Humans
NCBI Taxonomy ID
9606
Amino acid sequence
>lcl|BSEQ0049834|Keratin, type II cytoskeletal 1
MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGG
GFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFG
GFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSRE
REQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRR
RVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD
LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYED
IAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIA
TYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYG
SGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG
GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR
Number of residues
644
Molecular Weight
66038.505
Theoretical pI
Not Available
GO Classification
Functions
protein heterodimerization activity / signaling receptor activity / structural constituent of skin epidermis
Processes
intermediate filament organization / protein heterotetramerization
Components
collagen-containing extracellular matrix / cytoplasm
General Function
May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK
Specific Function
carbohydrate binding
Pfam Domain Function
Signal Regions
Not Available
Transmembrane Regions
Not Available
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0049835|Keratin, type II cytoskeletal 1 (KRT1)
ATGAGTCGACAGTTTAGTTCCAGGTCTGGGTACCGAAGTGGAGGGGGCTTCAGCTCTGGC
TCTGCTGGGATCATCAACTACCAGCGCAGGACCACCAGCAGCTCCACACGCCGCAGTGGA
GGAGGTGGTGGGAGATTTTCAAGCTGTGGTGGTGGTGGTGGTAGCTTTGGTGCTGGTGGT
GGATTTGGAAGTCGGAGTCTTGTTAACCTTGGTGGCAGTAAAAGCATCTCCATAAGTGTG
GCTAGAGGAGGTGGACGTGGTAGTGGCTTTGGTGGTGGTTATGGTGGTGGTGGCTTTGGT
GGTGGTGGCTTTGGTGGTGGTGGCTTTGGTGGAGGTGGCATTGGGGGTGGTGGCTTTGGT
GGTTTTGGCAGTGGTGGTGGTGGTTTTGGTGGAGGTGGCTTTGGGGGTGGTGGATATGGG
GGTGGTTATGGTCCTGTCTGCCCTCCTGGTGGCATACAAGAAGTCACTATCAACCAGAGC
CTTCTTCAGCCCCTCAATGTGGAGATTGACCCTGAGATCCAAAAGGTGAAGTCTCGAGAA
AGGGAGCAAATCAAGTCACTCAACAACCAATTTGCCTCCTTCATTGACAAGGTGAGGTTC
CTGGAGCAGCAGAACCAGGTACTGCAAACAAAATGGGAGCTGCTGCAGCAGGTAGATACC
TCCACTAGAACCCATAATTTAGAGCCCTACTTTGAGTCATTCATCAACAATCTCCGAAGG
AGAGTGGACCAACTGAAGAGTGATCAATCTCGGTTGGATTCGGAACTGAAGAACATGCAG
GACATGGTGGAGGATTACCGGAACAAGTATGAGGATGAAATCAACAAGCGGACAAATGCA
GAGAATGAATTTGTGACCATCAAGAAGGATGTGGATGGTGCTTATATGACCAAGGTGGAC
CTTCAGGCCAAACTTGACAACTTGCAGCAGGAAATTGATTTCCTTACAGCACTCTACCAA
GCAGAGTTGTCTCAGATGCAGACTCAAATCAGTGAAACTAATGTCATCCTCTCTATGGAC
AACAACCGCAGTCTCGACCTGGACAGCATCATTGCTGAGGTCAAGGCCCAGTACGAGGAT
ATAGCCCAGAAGAGCAAAGCTGAGGCCGAGTCCTTGTACCAGAGCAAGTATGAAGAGCTG
CAGATCACTGCTGGCAGACATGGGGATAGTGTGAGAAATTCAAAGATAGAAATTTCTGAG
CTGAATCGTGTGATCCAGAGACTTAGATCTGAAATCGACAATGTCAAGAAGCAGATCTCC
AACTTGCAGCAGTCCATCAGTGATGCAGAGCAGCGTGGCGAGAATGCCCTCAAGGATGCC
AAGAACAAGCTGAATGACCTGGAGGATGCCCTGCAGCAGGCCAAGGAAGACCTGGCCCGC
CTGCTGCGCGACTACCAGGAGCTGATGAACACCAAGCTGGCCCTGGATCTGGAGATTGCC
ACCTACAGGACCCTCCTGGAGGGAGAAGAAAGCAGGATGTCTGGAGAATGTGCCCCGAAC
GTGAGTGTGTCTGTGAGCACAAGCCACACCACCATCAGTGGAGGTGGCAGCCGAGGAGGT
GGCGGCGGTGGCTACGGCTCTGGAGGTAGCAGCTATGGCTCCGGAGGTGGTAGCTATGGT
TCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGC
TCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAGCTACGGCTCC
GGAAGCAGCAGTGGGGGCTACAGAGGTGGCTCTGGAGGCGGCGGCGGCGGCAGCTCTGGC
GGCCGGGGCTCTGGCGGCGGGAGCTCTGGAGGCTCCATAGGAGGCCGGGGATCCAGCTCT
GGGGGTGTCAAGTCCTCTGGTGGCAGTTCCAGCGTGAAGTTTGTTTCTACCACTTATTCC
GGAGTAACCAGATAA
Chromosome Location
12
Locus
12q13.13
External Identifiers
ResourceLink
UniProtKB IDP04264
UniProtKB Entry NameK2C1_HUMAN
GeneCard IDKRT1
HGNC IDHGNC:6412
PDB ID(s)4ZRY, 6E2J, 6UUI
KEGG IDhsa:3848
NCBI Gene ID3848
General References
  1. Johnson LD, Idler WW, Zhou XM, Roop DR, Steinert PM: Structure of a gene for the human epidermal 67-kDa keratin. Proc Natl Acad Sci U S A. 1985 Apr;82(7):1896-900. [Article]
  2. 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. [Article]
  3. Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. J Invest Dermatol. 2001 Apr;116(4):606-9. [Article]
  4. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  5. Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. [Article]
  6. 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]
  7. Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. [Article]
  8. Steinert PM, Parry DA, Idler WW, Johnson LD, Steven AC, Roop DR: Amino acid sequences of mouse and human epidermal type II keratins of Mr 67,000 provide a systematic basis for the structural and functional diversity of the end domains of keratin intermediate filament subunits. J Biol Chem. 1985 Jun 10;260(11):7142-9. [Article]
  9. Senshu T, Kan S, Ogawa H, Manabe M, Asaga H: Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis. Biochem Biophys Res Commun. 1996 Aug 23;225(3):712-9. [Article]
  10. Sprecher E, Ishida-Yamamoto A, Becker OM, Marekov L, Miller CJ, Steinert PM, Neldner K, Richard G: Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol. 2001 Apr;116(4):511-9. [Article]
  11. Ishida-Yamamoto A, Senshu T, Eady RA, Takahashi H, Shimizu H, Akiyama M, Iizuka H: Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination. J Invest Dermatol. 2002 Feb;118(2):282-7. [Article]
  12. Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA: Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol. 2002 May;118(5):838-44. [Article]
  13. Wang W, Sumiyoshi H, Yoshioka H, Fujiwara S: Interactions between epiplakin and intermediate filaments. J Dermatol. 2006 Aug;33(8):518-27. [Article]
  14. Smith JA, Blanchette RA, Burnes TA, Jacobs JJ, Higgins L, Witthuhn BA, David AJ, Gillman JH: Proteomic comparison of needles from blister rust-resistant and susceptible Pinus strobus seedlings reveals upregulation of putative disease resistance proteins. Mol Plant Microbe Interact. 2006 Feb;19(2):150-60. [Article]
  15. Chuang NN, Huang CC: Interaction of integrin beta1 with cytokeratin 1 in neuroblastoma NMB7 cells. Biochem Soc Trans. 2007 Nov;35(Pt 5):1292-4. [Article]
  16. Islam MA, Sturrock RN, Ekramoddoullah AK: A proteomics approach to identify proteins differentially expressed in Douglas-fir seedlings infected by Phellinus sulphurascens. J Proteomics. 2008 Oct 7;71(4):425-38. doi: 10.1016/j.jprot.2008.06.004. Epub 2008 Jun 15. [Article]
  17. 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]
  18. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [Article]
  19. Basha SM, Mazhar H, Vasanthaiah HK: Proteomics approach to identify unique xylem sap proteins in Pierce's disease-tolerant Vitis species. Appl Biochem Biotechnol. 2010 Mar;160(3):932-44. doi: 10.1007/s12010-009-8620-1. Epub 2009 May 2. [Article]
  20. Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci Signal. 2010 Jan 12;3(104):ra3. doi: 10.1126/scisignal.2000475. [Article]
  21. 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]
  22. Pixley RA, Espinola RG, Ghebrehiwet B, Joseph K, Kao A, Bdeir K, Cines DB, Colman RW: Interaction of high-molecular-weight kininogen with endothelial cell binding proteins suPAR, gC1qR and cytokeratin 1 determined by surface plasmon resonance (BiaCore). Thromb Haemost. 2011 Jun;105(6):1053-9. doi: 10.1160/TH10-09-0591. Epub 2011 May 5. [Article]
  23. Nawrot R, Barylski J, Schulze WX: Incorrectly annotated keratin derived peptide sequences lead to misleading MS/MS data interpretation. J Proteomics. 2013 Oct 8;91:270-3. doi: 10.1016/j.jprot.2013.07.009. Epub 2013 Jul 27. [Article]
  24. 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]
  25. 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]
  26. Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM: A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell. 1992 Sep 4;70(5):821-8. [Article]
  27. Korge BP, Compton JG, Steinert PM, Mischke D: The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain. J Invest Dermatol. 1992 Dec;99(6):697-702. [Article]
  28. Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science. 1992 Aug 21;257(5073):1128-30. [Article]
  29. Syder AJ, Yu QC, Paller AS, Giudice G, Pearson R, Fuchs E: Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. J Clin Invest. 1994 Apr;93(4):1533-42. [Article]
  30. Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG: Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Jan;102(1):17-23. [Article]
  31. McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM, et al.: Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). J Invest Dermatol. 1994 Jan;102(1):24-30. [Article]
  32. Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG: A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol. 1994 Dec;103(6):764-9. [Article]
  33. Kremer H, Lavrijsen AP, McLean WH, Lane EB, Melchers D, Ruiter DJ, Mariman EC, Steijlen PM: An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. J Invest Dermatol. 1998 Dec;111(6):1224-6. [Article]
  34. Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH: Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet. 1999 Mar;64(3):732-8. [Article]
  35. Arin MJ, Longley MA, Kuster W, Huber M, Hohl D, Rothnagel JA, Roop DR: An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. Exp Dermatol. 1999 Apr;8(2):124-7. [Article]
  36. Michael EJ, Schneiderman P, Grossman ME, Christiano AM: Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. Exp Dermatol. 1999 Dec;8(6):501-3. [Article]
  37. Cserhalmi-Friedman PB, Squeo R, Gordon D, Garzon M, Schneiderman P, Grossman ME, Christiano AM: Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. Clin Exp Dermatol. 2000 May;25(3):241-3. [Article]
  38. Arin MJ, Longley MA, Epstein EH Jr, Rothnagel JA, Roop DR: Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. Exp Dermatol. 2000 Feb;9(1):16-9. [Article]
  39. Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA: New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. Br J Dermatol. 2001 Aug;145(2):330-5. [Article]
  40. Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD: Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol. 2002 Oct;119(4):966-71. [Article]
  41. Lee DY, Ahn KS, Lee CH, Rho NK, Lee JH, Lee ES, Steinert PM, Yang JM: Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol. 2002 Oct;119(4):976-7. [Article]
  42. Arin MJ, Oji V, Emmert S, Hausser I, Traupe H, Krieg T, Grimberg G: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. Br J Dermatol. 2011 Feb;164(2):442-7. doi: 10.1111/j.1365-2133.2010.10096.x. [Article]

Associated Data

Drug Relations
DrugDrug groupPharmacological action?TypeActionsDetails
Copperapproved, investigationalunknowntargetDetails
Zincapproved, investigationalunknowntargetDetails
Zinc acetateapproved, investigationalunknowntargetDetails