Homo sapiens keratin 3 (KRT3), mRNA.
| RefSeq Version | NM_057088.2, 109148551 |
| Length | 2327 bp |
| Structure | linear |
| Update Date | 05-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens keratin 3 (KRT3), mRNA. |
| Product | keratin, type II cytoskeletal 3 |
| 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 corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq]. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_476429.2 |
| CDS | 67..1953 | Exon (1) | 1..711 | Exon (2) | 1..711 | Exon (3) | 712..932 | Exon (4) | 933..993 | Exon (5) | 994..1089 | Exon (6) | 1090..1254 | Exon (7) | 1255..1380 | Exon (8) | 1381..1601 | Exon (9) | 1602..1636 | Exon (10) | 1637..2310 |
| Translation | MSRQASKTSGGGSQGFSGRSAVVSGSSRMSCVAHSGGAGGGAYGFRSGAGGFGSRSLYNL
GGNKSISISVAAGGSRAGGFGGGRSSCAFAGGYGGGFGSGYGGGFGGGFGGGRGMGGGFG
GAGGFGGAGGFGGAGGFGGPGGFGGSGGFGGPGSLGSPGGFGPGGFPGGIQEVTINQSLL
QPLNVEIDPQIGQVKAQEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWNLLQQQGTSS
ISGTNNLEPLFENHINYLRSYLDNILGERGRLDSELKNMEDLVEDFKKKYEDEINKRTAA
ENEFVTLKKDVDSAYMNKVELQAKVDALIDEIDFLRTLYDAELSQMQSHISDTSVVLSMD
NNRSLDLDSIIAEVRAQYEDIAQRSKAEAEALYQTKLGELQTTAGRHGDDLRNTKSEIIE
LNRMIQRLRAEIEGVKKQNANLQTAIAEAEQHGEMALKDANAKLQELQAALQQAKDDLAR
LLRDYQELMNVKLALDVEIATYRKLLEGEEYRMSGECPSAVSISVVSSSTTSASAGGYGG
GYGGGMGGGLGGGFSAGGGSGSGFGRGGGGGIGGGFGGGSSGFSGGSGFGSISGARYGVS
GGGFSSASNRGGSIKFSQSSQSSQRYSR
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| Position | Chain | Variation | Link |
| complement(197) | - | g, c | dbSNP:28721426 |
| complement(316) | - | g, a | dbSNP:62617086 |
| complement(374) | - | g, c | dbSNP:112593469 |
| 381 | + | c, t | dbSNP:111435734 |
| complement(447) | - | t, c | dbSNP:117364830 |
| complement(519) | - | , cccaccaaagccaccaga | dbSNP:68098033 |
| complement(772) | - | g, c | dbSNP:76767665 |
| complement(790) | - | g, a | dbSNP:115512783 |
| complement(1041) | - | c, a | dbSNP:114915149 |
| complement(1052) | - | g, a | dbSNP:114078275 |
| complement(1093) | - | t, g | dbSNP:116142090 |
| complement(1122) | - | g, a | dbSNP:115678044 |
| complement(1155) | - | g, a | dbSNP:4432093 |
| complement(1189) | - | g, c | dbSNP:3887954 |
| complement(1363) | - | t, c | dbSNP:61929765 |
| 1574 | + | c, g | dbSNP:60410063 |
| 1591 | + | a, g | dbSNP:57872071 |
| complement(1673) | - | , c | dbSNP:35394995 |
| complement(1779) | - | t, c | dbSNP:117816833 |
| complement(1800..1801) | - | , accgctgaaaccgctgctgcc | dbSNP:60125653 |
| complement(1968) | - | g, a | dbSNP:80023802 |
| Gene Symbol | KRT3 |
| Gene Synonym | CK3; FLJ95909; K3 |
| Chromosome | 12 |
| Locus Map | 12q13.13 |
| All Transcripts | NM_057088 |
| Title | Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation . |
| Author | Szaflik,J.P., Oldak,M., Maksym,R.B., Kaminska,A., Pollak,A., Udziela,M., Ploski,R. and Szaflik,J. |
| Journal | Mol. Vis. 14, 1713-1718 (2008) |
| Title | New consensus nomenclature for mammalian keratins . |
| Author | Schweizer,J., Bowden,P.E., Coulombe,P.A., Langbein,L., Lane,E.B., Magin,T.M., Maltais,L., Omary,M.B., Parry,D.A., Rogers,M.A. and Wright,M.W. |
| Journal | J. Cell Biol. 174 (2), 169-174 (2006) |
| Title | Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy . |
| Author | Chen,Y.T., Tseng,S.H. and Chao,S.C. |
| Journal | Cornea 24 (8), 928-932 (2005) |
| Title | Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy . |
| Author | Irvine,A.D., Corden,L.D., Swensson,O., Swensson,B., Moore,J.E., Frazer,D.G., Smith,F.J., Knowlton,R.G., Christophers,E., Rochels,R., Uitto,J. and McLean,W.H. |
| Journal | Nat. Genet. 16 (2), 184-187 (1997) |
| Title | Evolution of keratin genes: different protein domains evolve by different pathways . |
| Author | Klinge,E.M., Sylvestre,Y.R., Freedberg,I.M. and Blumenberg,M. |
| Journal | J. Mol. Evol. 24 (4), 319-329 (1987) |
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