Homo sapiens keratin 10 (KRT10), mRNA.
| RefSeq Version | NM_000421.3, 195972865 |
| Length | 2162 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens keratin 10 (KRT10), mRNA. |
| Product | keratin, type I cytoskeletal 10 |
| Comment | Summary: This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq]. |
| RefSeq | NP_000412.3 |
| CDS | 27..1781 | Exon (1) | 1..653 | Exon (2) | 1..653 | Exon (3) | 654..736 | Exon (4) | 737..893 | Exon (5) | 894..1055 | Exon (6) | 1056..1181 | Exon (7) | 1182..1399 | Exon (8) | 1400..1774 | Exon (9) | 1775..2140 |
| Translation | MSVRYSSSKHYSSSRSGGGGGGGGCGGGGGVSSLRISSSKGSLGGGFSSGGFSGGSFSRG
SSGGGCFGGSSGGYGGLGGFGGGSFRGSYGSSSFGGSYGGSFGGGSFGGGSFGGGSFGGG
GFGGGGFGGGFGGGFGGDGGLLSGNEKVTMQNLNDRLASYLDKVRALEESNYELEGKIKE
WYEKHGNSHQGEPRDYSKYYKTIDDLKNQILNLTTDNANILLQIDNARLAADDFRLKYEN
EVALRQSVEADINGLRRVLDELTLTKADLEMQIESLTEELAYLKKNHEEEMKDLRNVSTG
DVNVEMNAAPGVDLTQLLNNMRSQYEQLAEQNRKDAEAWFNEKSKELTTEIDNNIEQISS
YKSEITELRRNVQALEIELQSQLALKQSLEASLAETEGRYCVQLSQIQAQISALEEQLQQ
IRAETECQNTEYQQLLDIKIRLENEIQTYRSLLEGEGSSGGGGRGGGSFGGGYGGGSSGG
GSSGGGHGGGHGGSSGGGYGGGSSGGGSSGGGYGGGSSSGGHGGSSSGGYGGGSSGGGGG
GYGGGSSGGGSSSGGGYGGGSSSGGHKSSSSGSVGESSSKGPRY
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| Position | Chain | Variation | Link |
| complement(70) | - | t, c | dbSNP:28411890 |
| complement(283) | - | t, c | dbSNP:117610737 |
| complement(328) | - | g, c, a | dbSNP:4261597 |
| complement(331) | - | g, a | dbSNP:114467326 |
| complement(401) | - | g, a | dbSNP:71371451 |
| complement(402) | - | t, c | dbSNP:77919366 |
| 431 | + | c, t | dbSNP:1132252 |
| 440 | + | c, t | dbSNP:1132253 |
| 443 | + | c, t | dbSNP:1132254 |
| 475 | + | g, t | dbSNP:58901407 |
| 483 | + | c, g | dbSNP:61460100 |
| 486 | + | a, c | dbSNP:57784225 |
| 491..492 | + | aa, cc | dbSNP:60712939 |
| 492 | + | a, c | dbSNP:58852768 |
| 493 | + | a, g | dbSNP:58075662 |
| 495 | + | c, t | dbSNP:1132255 |
| 498 | + | c, g | dbSNP:59175042 |
| 500 | + | c, t | dbSNP:1132256 |
| 504 | + | g, t | dbSNP:58414354 |
| 505 | + | a, c | dbSNP:58735429 |
| 507..512 | + | , ttggac | dbSNP:56809156 |
| 507 | + | c, t | dbSNP:1132257 |
| 508 | + | c, t | dbSNP:60118264 |
| 567 | + | c, t | dbSNP:1132258 |
| 592 | + | a, g | dbSNP:1132259 |
| 671 | + | a, t | dbSNP:1132260 |
| 827 | + | c, t | dbSNP:1132262 |
| 833 | + | a, g | dbSNP:1132263 |
| complement(883) | - | t, g | dbSNP:61735162 |
| 886 | + | a, g | dbSNP:1132264 |
| 903 | + | c, g | dbSNP:1132265 |
| 923 | + | c, t | dbSNP:1132266 |
| 1284 | + | c, g | dbSNP:1132268 |
| 1290..1291 | + | cg, ga | dbSNP:59075499 |
| 1326 | + | c, t | dbSNP:60035576 |
| 1341 | + | a, g | dbSNP:61434181 |
| 1351 | + | a, t | dbSNP:58026994 |
| 1377 | + | a, g | dbSNP:1132269 |
| complement(1443..1444) | - | , gagcttccgccgccg | dbSNP:35710360 |
| complement(1444..1445) | - | , gagcttccgccgccg | dbSNP:11268553 |
| complement(1445..1459) | - | , gagcttccgccgccg | dbSNP:72074479 |
| complement(1482..1483) | - | , ctt | dbSNP:72471582 |
| complement(1485) | - | g, a | dbSNP:17855579 |
| complement(1709..1710) | - | , gctgccgccgccgtatccgccgccggagct | dbSNP:11275186 |
| complement(1735) | - | g, c | dbSNP:112018671 |
| complement(1788) | - | g, a | dbSNP:79174420 |
| complement(1823) | - | g, a | dbSNP:71371449 |
| 1846 | + | a, g | dbSNP:12231 |
| complement(1875) | - | g, a | dbSNP:117588718 |
| 1897 | + | a, g | dbSNP:1132367 |
| complement(1909) | - | g, a | dbSNP:111849607 |
| complement(1928) | - | t, g | dbSNP:112791986 |
| complement(1962) | - | g, a | dbSNP:76090067 |
| complement(2092) | - | g, a | dbSNP:112000562 |
| Gene Symbol | KRT10 |
| Gene Synonym | BCIE; BIE; CK10; EHK; K10; KPP |
| Chromosome | 17 |
| Locus Map | 17q21 |
| All Transcripts | NM_000421 |
| Title | Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10 . |
| Author | Choate,K.A., Lu,Y., Zhou,J., Choi,M., Elias,P.M., Farhi,A., Nelson-Williams,C., Crumrine,D., Williams,M.L., Nopper,A.J., Bree,A., Milstone,L.M. and Lifton,R.P. |
| Journal | Science 330 (6000), 94-97 (2010) |
| Title | Profiling pancreatic cancer-secreted proteome using 15N amino acids and serum-free media . |
| Author | Xiao,J., Lee,W.N., Zhao,Y., Cao,R., Go,V.L., Recker,R.R., Wang,Q. and Xiao,G.G. |
| Journal | Pancreas 39 (1), E17-E23 (2010) |
| Title | Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene . |
| Author | Terheyden,P., Grimberg,G., Hausser,I., Rose,C., Korge,B.P., Krieg,T. and Arin,M.J. |
| Journal | J. Invest. Dermatol. 129 (11), 2721-2723 (2009) |
| Title | Expression of cytokeratins 10, 13, 14 and 19 in oral lichen planus . |
| Author | Jacques,C.M., Pereira,A.L., Maia,V., Cuzzi,T. and Ramos-e-Silva,M. |
| Journal | J Oral Sci 51 (3), 355-365 (2009) |
| Title | Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions . |
| Author | Barcelos,A.C. and Sotto,M.N. |
| Journal | J. Cutan. Pathol. 36 (6), 647-654 (2009) |
| Title | Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes . |
| Author | Rasmussen,H.H., van Damme,J., Puype,M., Gesser,B., Celis,J.E. and Vandekerckhove,J. |
| Journal | Electrophoresis 13 (12), 960-969 (1992) |
| Title | The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes . |
| Author | Cheng,J., Syder,A.J., Yu,Q.C., Letai,A., Paller,A.S. and Fuchs,E. |
| Journal | Cell 70 (5), 811-819 (1992) |
| Title | Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis . |
| Author | Rothnagel,J.A., Dominey,A.M., Dempsey,L.D., Longley,M.A., Greenhalgh,D.A., Gagne,T.A., Huber,M., Frenk,E., Hohl,D. and Roop,D.R. |
| Journal | Science 257 (5073), 1128-1130 (1992) |
| Title | Exons I and VII of the gene (Ker10) encoding human keratin 10 undergo structural rearrangements within repeats . |
| Author | Tkachenko,A.V., Buchman,V.L., Bliskovsky,V.V., Shvets,Yu.P. and Kisselev,L.L. |
| Journal | Gene 116 (2), 245-251 (1992) |
| Title | Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops . |
| Author | Korge,B.P., Gan,S.Q., McBride,O.W., Mischke,D. and Steinert,P.M. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 89 (3), 910-914 (1992) |
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