Keratin, type II cytoskeletal 6A
Details
- Name
- Keratin, type II cytoskeletal 6A
- Synonyms
- CK-6A
- CK-6D
- Cytokeratin-6A
- Cytokeratin-6D
- K6A
- Keratin-6A
- KRT6D
- Type-II keratin Kb6
- Gene Name
- KRT6A
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0049886|Keratin, type II cytoskeletal 6A MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSVSRSRGSGGLGGACGGAGFGSRS LYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAG GFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPTIQRVRAEEREQIKTLNNKFASFIDK VRFLEQQNKVLETKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELR GMQDLVEDFKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRA LYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKY EELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMAL KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG VGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRAIGGGLS SVGGGSSTIKYTTTSSSSRKSYKH
- Number of residues
- 564
- Molecular Weight
- 60044.525
- Theoretical pI
- Not Available
- GO Classification
- Functionsstructural constituent of cytoskeletonProcessescell differentiation / cornification / keratinization / morphogenesis of an epithelium / positive regulation of cell proliferation / wound healingComponentscytosol / extracellular exosome / keratin filament / membrane / nucleus
- General Function
- Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.
- Specific Function
- Structural constituent of cytoskeleton
- Pfam Domain Function
- Transmembrane Regions
- Not Available
- Cellular Location
- Not Available
- Gene sequence
>lcl|BSEQ0049887|Keratin, type II cytoskeletal 6A (KRT6A) ATGGCCAGCACATCCACCACCATCAGGAGCCACAGCAGCAGCCGCCGGGGTTTCAGTGCC AACTCAGCCAGGCTCCCTGGGGTCAGCCGCTCTGGCTTCAGCAGCGTCTCCGTGTCCCGC TCCAGGGGCAGTGGTGGCCTGGGTGGTGCATGTGGAGGAGCTGGCTTTGGCAGCCGCAGT CTGTATGGCCTGGGGGGCTCCAAGAGGATCTCCATTGGAGGGGGCAGCTGTGCCATCAGT GGCGGCTATGGCAGCAGAGCCGGAGGCAGCTATGGCTTTGGTGGCGCCGGGAGTGGATTT GGTTTCGGTGGTGGAGCCGGCATTGGCTTTGGTCTGGGTGGTGGAGCCGGCCTTGCTGGT GGCTTTGGGGGCCCTGGCTTCCCTGTGTGCCCCCCTGGAGGCATCCAAGAGGTCACCGTC AACCAGAGTCTCCTGACTCCCCTCAACCTGCAAATCGATCCCACCATCCAGCGGGTGCGG GCTGAGGAGCGTGAACAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATCGACAAG GTGCGGTTCCTGGAGCAGCAGAACAAGGTTCTGGAAACAAAGTGGACCCTGCTGCAGGAG CAGGGCACCAAGACTGTGAGGCAGAACCTGGAGCCGTTGTTCGAGCAGTACATCAACAAC CTCAGGAGGCAGCTGGACAGCATTGTCGGGGAACGGGGCCGCCTGGACTCAGAGCTCAGA GGCATGCAGGACCTGGTGGAGGACTTCAAGAACAAATATGAGGATGAAATCAACAAGCGC ACAGCAGCAGAGAATGAATTTGTGACTCTGAAGAAGGATGTGGATGCTGCCTACATGAAC AAGGTTGAACTGCAAGCCAAGGCAGACACTCTCACAGACGAGATCAACTTCCTGAGAGCC TTGTATGATGCAGAGCTGTCCCAGATGCAGACCCACATCTCAGACACATCTGTGGTGCTG TCCATGGACAACAACCGCAACCTGGACCTGGACAGCATCATCGCTGAGGTCAAGGCCCAA TATGAGGAGATTGCTCAGAGAAGCCGGGCTGAGGCTGAGTCCTGGTACCAGACCAAGTAC GAGGAGCTGCAGGTCACAGCAGGCAGACATGGGGACGACCTGCGCAACACCAAGCAGGAG ATTGCTGAGATCAACCGCATGATCCAGAGGCTGAGATCTGAGATCGACCACGTCAAGAAG CAGTGCGCCAACCTGCAGGCCGCCATTGCTGATGCTGAGCAGCGTGGGGAGATGGCCCTC AAGGATGCCAAGAACAAGCTGGAAGGGCTGGAGGATGCCCTGCAGAAGGCCAAGCAGGAC CTGGCCCGGCTGCTGAAGGAGTACCAGGAGCTGATGAATGTCAAGCTGGCCCTGGACGTG GAGATCGCCACCTACCGCAAGCTGCTGGAGGGTGAGGAGTGCAGGCTGAATGGCGAAGGC GTTGGACAAGTCAACATCTCTGTGGTGCAGTCCACCGTCTCCAGTGGCTATGGCGGTGCC AGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCAGTGGT CTTGGCGTTGGAGGTGGCTTCAGTTCCAGCAGTGGCAGAGCCATTGGGGGTGGCCTCAGC TCTGTTGGAGGCGGCAGTTCCACCATCAAGTACACCACCACCTCCTCCTCCAGCAGGAAG AGCTATAAGCACTAA
- Chromosome Location
- 12
- Locus
- 12q13.13
- External Identifiers
Resource Link UniProtKB ID P02538 UniProtKB Entry Name K2C6A_HUMAN HGNC ID HGNC:6443 - General References
- Takahashi K, Paladini RD, Coulombe PA: Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. J Biol Chem. 1995 Aug 4;270(31):18581-92. [Article]
- 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]
- Hanukoglu I, Fuchs E: The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell. 1983 Jul;33(3):915-24. [Article]
- 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. [Article]
- 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]
- Du ZF, Xu CM, Zhao Y, Liu WT, Chen XL, Chen CY, Fang H, Ke HP, Zhang XN: Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. Eur J Dermatol. 2012 Jul-Aug;22(4):476-80. doi: 10.1684/ejd.2012.1773. [Article]
- 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]
- Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ: Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. 1995 Jul;10(3):363-5. [Article]
- Smith FJ, McKenna KE, Irvine AD, Bingham EA, Coleman CM, Uitto J, McLean WH: A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1. Exp Dermatol. 1999 Apr;8(2):109-14. [Article]
- Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH: Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol. 2001 Dec;117(6):1391-6. [Article]
- Kang XJ, Sun M, Yang W, Yu M, Ju Q, Lo WH, Xia LQ, Zhang X: [A de nono I462S mutation in the KRT6A gene is associated with pachyonychia congenita type I]. Zhonghua Yi Xue Za Zhi. 2004 Aug 17;84(16):1344-7. [Article]
- Garcia-Rio I, Penas PF, Garcia-Diez A, McLean WH, Smith FJ: A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a. Br J Dermatol. 2005 Apr;152(4):800-2. [Article]
- Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Bjorck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH: The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct;10(1):21-30. [Article]
- Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ: A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. 2007 Dec;48(3):199-205. Epub 2007 Aug 24. [Article]
- Zhou HL, Yang S, Gao M, Zhao XY, Zhu YG, Li W, Ren YQ, Liang YH, Du WH, Zhang XJ: A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1. J Eur Acad Dermatol Venereol. 2007 Mar;21(3):351-5. [Article]
- Bai ZL, Feng YG, Tan SS, Wang XY, Xiao SX, Wang H, Jia HQ, Wu JW, He DL, Kang RH: Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families. Br J Dermatol. 2008 Jul;159(1):238-40. doi: 10.1111/j.1365-2133.2008.08603.x. Epub 2008 Jul 1. [Article]
- Lv YM, Yang S, Zhang Z, Cui Y, Quan C, Zhou FS, Fang QY, Du WH, Zhang FR, Chang JM, Tao XP, Zhang AL, Kang RH, Du WD, Zhang XJ: Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1. Br J Dermatol. 2009 Jun;160(6):1327-9. doi: 10.1111/j.1365-2133.2009.09062.x. Epub 2009 Mar 11. [Article]
- Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ: A large mutational study in pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17. [Article]