Keratin, type I cytoskeletal 12

NameKeratin, type I cytoskeletal 12
Synonyms
  • CK-12
  • Cytokeratin-12
  • K12
  • Keratin-12
Gene NameKRT12
OrganismHuman
Amino acid sequence
>lcl|BSEQ0017500|Keratin, type I cytoskeletal 12
MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAA
SMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGL
LSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYY
PLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLD
ELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLND
MRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQ
SQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKA
RLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNG
EVVSSQVQEIEELM
Number of residues494
Molecular Weight53510.935
Theoretical pINot Available
GO Classification
Functions
  • structural molecule activity
Processes
  • epithelium development
  • cornea development in camera-type eye
  • visual perception
Components
  • extracellular exosome
  • intermediate filament
General FunctionStructural molecule activity
Specific FunctionMay play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity).
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDQ99456
UniProtKB Entry NameK1C12_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0017501|Keratin, type I cytoskeletal 12 (KRT12)
ATGGATCTCTCCAACAACACCATGTCACTCTCAGTGCGCACCCCCGGACTGTCCCGGCGG
CTCTCCTCGCAGAGTGTGATAGGCAGACCCAGGGGCATGTCTGCTTCCAGTGTTGGAAGT
GGTTATGGGGGAAGTGCCTTTGGCTTTGGAGCCAGCTGTGGGGGAGGCTTTTCTGCTGCT
TCCATGTTTGGTTCTAGTTCCGGCTTTGGGGGTGGCTCCGGAAGTTCCATGGCAGGAGGA
CTGGGTGCTGGTTATGGGAGAGCCCTGGGTGGAGGTAGCTTTGGAGGGCTGGGGATGGGA
TTTGGGGGCAGCCCAGGAGGTGGCTCTCTAGGTATTCTCTCGGGCAATGATGGAGGCCTT
CTTTCTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGATAGATTAGCTTCCTACCTG
GATAAGGTGCGAGCTCTAGAAGAGGCTAATACTGAGCTAGAAAATAAAATTCGAGAATGG
TATGAAACACGAGGAACTGGGACTGCAGATGCTTCACAGAGCGATTACAGCAAATATTAT
CCACTGATTGAAGACCTCAGGAATAAGATCATTTCAGCCAGCATTGGAAATGCCCAGCTC
CTCTTGCAGATTGACAATGCGAGACTAGCTGCTGAGGACTTCAGGATGAAGTATGAGAAT
GAACTGGCCCTGCGCCAGGGCGTAGAGGCCGACATCAATGGCCTGCGCCGGGTGCTGGAC
GAGCTGACCCTGACCAGGACCGACCTGGAGATGCAGATCGAGAGCCTGAACGAGGAGCTG
GCCTACATGAAGAAGAACCACGAGGATGAGCTCCAAAGCTTCCGGGTGGGCGGCCCAGGC
GAGGTCAGCGTAGAAATGGACGCTGCCCCCGGAGTGGACCTCACCAGGCTCCTCAATGAT
ATGCGGGCGCAGTATGAAACCATCGCTGAGCAGAATCGGAAGGACGCTGAAGCCTGGTTC
ATTGAAAAGAGCGGGGAGCTCCGTAAGGAGATTAGCACCAACACCGAGCAGCTTCAGTCC
AGCAAGAGCGAGGTCACCGACCTGCGTCGCGCCTTTCAGAACCTGGAGATCGAGCTACAG
TCCCAGCTCGCCATGAAGAAATCCCTGGAGGACTCCTTGGCCGAAGCCGAGGGCGATTAC
TGCGCGCAGCTGTCCCAGGTGCAGCAGCTCATCAGCAACCTGGAGGCACAGCTGCTCCAG
GTGCGCGCGGACGCAGAGCGCCAGAACGTGGACCACCAGCGGCTGCTGAATGTCAAGGCC
CGCCTGGAGCTGGAGATTGAGACCTACCGCCGCCTGCTGGACGGGGAGGCCCAAGGTGAT
GGTTTGGAGGAAAGTTTATTTGTGACAGACTCCAAATCACAAGCACAGTCAACTGATTCC
TCTAAAGACCCAACCAAAACCCGAAAAATCAAGACAGTTGTGCAGGAGATGGTGAATGGT
GAGGTGGTCTCATCTCAAGTTCAGGAAATTGAAGAACTAATGTAA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:6414
Chromosome Location17
LocusNot Available
References
  1. Nishida K, Adachi W, Shimizu-Matsumoto A, Kinoshita S, Mizuno K, Matsubara K, Okubo K: A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA. Invest Ophthalmol Vis Sci. 1996 Aug;37(9):1800-9. 8759347
  2. Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, Shimomura Y, Kinoshita S: Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet. 1997 Dec;61(6):1268-75. 9399908
  3. Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, McLEAN WH: Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res. 2000 Jan;70(1):41-9. 10644419
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  5. 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. 12665801
  6. 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. 21269460
  7. Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997 Jun;16(2):184-7. 9171831
  8. Corden LD, Swensson O, Swensson B, Rochels R, Wannke B, Thiel HJ, McLean WH: A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. Br J Ophthalmol. 2000 May;84(5):527-30. 10781519
  9. Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A: Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. Jpn J Ophthalmol. 2002 Nov-Dec;46(6):673-4. 12543196
  10. Yoon MK, Warren JF, Holsclaw DS, Gritz DC, Margolis TP: A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. Br J Ophthalmol. 2004 Jun;88(6):752-6. 15148206
  11. Chen YT, Tseng SH, Chao SC: Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. Cornea. 2005 Nov;24(8):928-32. 16227835
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  13. Sullivan LS, Baylin EB, Font R, Daiger SP, Pepose JS, Clinch TE, Nakamura H, Zhao XC, Yee RW: A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. Mol Vis. 2007 Jun 21;13:975-80. 17653038
  14. Nielsen K, Orntoft T, Hjortdal J, Rasmussen T, Ehlers N: A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. Cornea. 2008 Jan;27(1):100-2. doi: 10.1097/ICO.0b013e31815652fd. 18245975
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  16. Clausen I, Duncker GI, Grunauer-Kloevekorn C: Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family. Mol Vis. 2010 May 29;16:954-60. 20577595
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  18. Ogasawara M, Matsumoto Y, Hayashi T, Ohno K, Yamada H, Kawakita T, Dogru M, Shimazaki J, Tsubota K, Tsuneoka H: KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy. Am J Ophthalmol. 2014 Jan;157(1):93-102.e1. doi: 10.1016/j.ajo.2013.08.008. Epub 2013 Oct 5. 24099278