Sequence in raw or FASTA format:
Homo sapiens keratin 1 (KRT1), mRNA.
| RefSeq Version | NM_006121.3, 119395749 |
| Length | 2451 bp |
| Structure | linear |
| Update Date | 05-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens keratin 1 (KRT1), mRNA. |
| Product | keratin, type II cytoskeletal 1 |
| Comment | Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq]. |
| RefSeq | NP_006112.3 |
| CDS | 60..1994 | Exon (1) | 1..650 | Exon (2) | 1..650 | Exon (3) | 651..865 | Exon (4) | 866..926 | Exon (5) | 927..1022 | Exon (6) | 1023..1187 | Exon (7) | 1188..1313 | Exon (8) | 1314..1534 | Exon (9) | 1535..1569 | Exon (10) | 1570..2451 |
| Translation | MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGG
GFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFG
GFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSRE
REQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRR
RVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD
LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYED
IAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIA
TYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYG
SGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG
GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR
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| Position | Chain | Variation | Link |
| complement(95) | - | t, c | dbSNP:111907110 |
| complement(134) | - | g, a | dbSNP:828367 |
| complement(172) | - | t, c | dbSNP:34787940 |
| complement(252) | - | g, a | dbSNP:116444444 |
| 280 | + | a, t | dbSNP:57977969 |
| 338 | + | c, t | dbSNP:2741151 |
| 340 | + | a, t | dbSNP:2741152 |
| 458 | + | c, t | dbSNP:1050870 |
| 523 | + | a, g, t | dbSNP:57959072 |
| 541 | + | c, t | dbSNP:57695159 |
| 578 | + | , gaccctgagatc | dbSNP:58422839 |
| 590 | + | g, t | dbSNP:58381018 |
| 595 | + | c, g | dbSNP:59044845 |
| 615 | + | c, t | dbSNP:60022878 |
| 618 | + | c, t | dbSNP:59151464 |
| 622 | + | a, g | dbSNP:58928370 |
| 623 | + | a, c | dbSNP:59429455 |
| 630 | + | a, t | dbSNP:59022806 |
| 631 | + | g, t | dbSNP:58008716 |
| 632 | + | g, t | dbSNP:59208902 |
| 636 | + | c, t | dbSNP:60937700 |
| 682 | + | c, t | dbSNP:61616632 |
| 700 | + | c, t | dbSNP:61549035 |
| 757 | + | c, t | dbSNP:60297570 |
| 779 | + | a, g | dbSNP:1050871 |
| complement(800) | - | g, a | dbSNP:56895471 |
| 821 | + | a, g | dbSNP:2741155 |
| complement(832) | - | t, a | dbSNP:75711771 |
| 859 | + | a, g | dbSNP:60359468 |
| 990 | + | c, g | dbSNP:137853224 |
| 1078 | + | a, t | dbSNP:58062863 |
| 1131 | + | a, t | dbSNP:1050872 |
| complement(1343) | - | c, a | dbSNP:117108628 |
| complement(1419) | - | c, a | dbSNP:17678945 |
| 1435..1458 | + | , cccgcctgctgcgcgactaccagg | dbSNP:60447237 |
| complement(1448) | - | g, a | dbSNP:936958 |
| complement(1472) | - | t, g | dbSNP:698170 |
| 1483 | + | c, t | dbSNP:137853225 |
| 1491 | + | a, g | dbSNP:59089201 |
| 1493 | + | g, t | dbSNP:58949162 |
| 1494 | + | a, t | dbSNP:61218439 |
| 1495 | + | c, t | dbSNP:57837128 |
| 1500 | + | a, c | dbSNP:59431558 |
| 1504 | + | a, g | dbSNP:58420087 |
| 1516 | + | c, t | dbSNP:56914602 |
| 1524 | + | a, g | dbSNP:58773503 |
| 1527 | + | c, g | dbSNP:60279707 |
| 1528 | + | a, g | dbSNP:58453920 |
| complement(1565) | - | g, a | dbSNP:34154891 |
| complement(1579) | - | t, g | dbSNP:75007002 |
| 1615 | + | , g | dbSNP:58373389 |
| 1629..1655 | + | , ggctacggctctggaggtagcagctat | dbSNP:58193503 |
| 1668..1669 | + | a, gg | dbSNP:59169454 |
| 1687 | + | , g | dbSNP:57650413 |
| complement(1708..1728) | - | , tacctccggagccatagctgc | dbSNP:66529359 |
| 1709 | + | c, t | dbSNP:11556631 |
| 1716 | + | , ggctccggaggtagcagctac | dbSNP:61226348 |
| complement(1728) | - | t, c | dbSNP:77846840 |
| complement(1736) | - | g, a | dbSNP:11170232 |
| complement(1752..1772) | - | , gccacctccagagccatagct | dbSNP:67486529 |
| 1810..1811 | + | , g | dbSNP:60765982 |
| 1821 | + | a, g | dbSNP:60526003 |
| 1957 | + | a, g | dbSNP:14024 |
| 2034 | + | g, t | dbSNP:2741161 |
| 2195 | + | c, t | dbSNP:1050886 |
| complement(2215) | - | g, a | dbSNP:112275575 |
| complement(2224) | - | , a | dbSNP:35022771 |
| 2274 | + | a, t | dbSNP:1050890 |
| 2337 | + | a, t | dbSNP:1050893 |
| complement(2338) | - | g, a | dbSNP:11170231 |
| 2339 | + | a, t | dbSNP:1050895 |
| 2397 | + | a, t | dbSNP:1050897 |
| Gene Symbol | KRT1 |
| Gene Synonym | CK1; EHK; EHK1; EPPK; K1; KRT1A; NEPPK |
| Chromosome | 12 |
| Locus Map | 12q13.13 |
| All Transcripts | NM_006121 |
| Title | A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis . |
| Author | Bolling,M.C., Bladergroen,R.S., van Steensel,M.A., Willemsen,M., Jonkman,M.F. and van Geel,M. |
| Journal | Br. J. Dermatol. 162 (4), 875-879 (2010) |
| Title | Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules . |
| Author | Grimberg,G., Hausser,I., Muller,F.B., Wodecki,K., Schaffrath,C., Krieg,T., Oji,V., Traupe,H. and Arin,M.J. |
| Journal | Br. J. Dermatol. 160 (2), 446-449 (2009) |
| Title | The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain . |
| Author | Korge,B.P., Compton,J.G., Steinert,P.M. and Mischke,D. |
| Journal | J. Invest. Dermatol. 99 (6), 697-702 (1992) |
| Title | Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q . |
| Author | Compton,J.G., DiGiovanna,J.J., Santucci,S.K., Kearns,K.S., Amos,C.I., Abangan,D.L., Korge,B.P., McBride,O.W., Steinert,P.M. and Bale,S.J. |
| Journal | Nat. Genet. 1 (4), 301-305 (1992) |
| Title | Chromosomal mapping of human keratin genes: evidence of non-linkage . |
| Author | Lessin,S.R., Huebner,K., Isobe,M., Croce,C.M. and Steinert,P.M. |
| Journal | J. Invest. Dermatol. 91 (6), 572-578 (1988) |
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