Homo sapiens keratin 6C (KRT6C), mRNA.
| RefSeq Version | NM_173086.4, 155969696 |
| Length | 2345 bp |
| Structure | linear |
| Update Date | 27-DEC-2010 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens keratin 6C (KRT6C), mRNA. |
| Product | keratin, type II cytoskeletal 6C |
| Comment | Summary: Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq]. COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_775109.2 |
| CDS | 49..1743 | Exon (1) | 1..588 | Exon (2) | 1..588 | Exon (3) | 589..803 | Exon (4) | 804..864 | Exon (5) | 865..960 | Exon (6) | 961..1125 | Exon (7) | 1126..1251 | Exon (8) | 1252..1472 | Exon (9) | 1473..1507 | Exon (10) | 1508..2289 |
| Translation | MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSISVSRSRGSGGLGGACGGAGFGSRS
LYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAG
GFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPAIQRVRAEEREQIKTLNNKFASFIDK
VRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELR
NMQDLVEDLKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRA
LYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKY
EELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCASLQAAIADAEQRGEMAL
KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG
VGQVNVSVVQSTISSGYGGASGVGSGLGLGGGSSYSYGSGLGIGGGFSSSSGRAIGGGLS
SVGGGSSTIKYTTTSSSSRKSYKH
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| Position | Chain | Variation | Link |
| complement(110) | - | t, c | dbSNP:61741601 |
| complement(195) | - | g, a | dbSNP:74093594 |
| complement(195) | - | g, a | dbSNP:61732611 |
| complement(228..231) | - | taag, caga | dbSNP:71450798 |
| complement(228) | - | g, a | dbSNP:61740354 |
| complement(228) | - | , a | dbSNP:33998545 |
| complement(229) | - | g, a | dbSNP:61740355 |
| 231 | + | a, g, ta | dbSNP:2885799 |
| complement(231) | - | t, c | dbSNP:61732948 |
| 246 | + | a, c | dbSNP:419374 |
| complement(246) | - | t, g | dbSNP:28542082 |
| 248 | + | c, t | dbSNP:11544883 |
| complement(310) | - | t, c | dbSNP:61914500 |
| complement(310) | - | t, c | dbSNP:411107 |
| 335 | + | c, t | dbSNP:11544882 |
| complement(380) | - | t, c | dbSNP:61745883 |
| complement(380) | - | t, c | dbSNP:394598 |
| complement(380) | - | t, c | dbSNP:61914499 |
| complement(465) | - | g, a | dbSNP:71455206 |
| 465 | + | c, t | dbSNP:1053684 |
| complement(476) | - | t, c | dbSNP:28538343 |
| 543 | + | a, g | dbSNP:11540300 |
| 564..566 | + | , caa | dbSNP:58401785 |
| complement(593) | - | t, c | dbSNP:11608915 |
| 663 | + | c, t | dbSNP:11266758 |
| 691 | + | c, g | dbSNP:11266911 |
| 728 | + | a, g | dbSNP:3194286 |
| 728 | + | a, g | dbSNP:17099602 |
| complement(729) | - | g, a | dbSNP:77218649 |
| 732 | + | c, t | dbSNP:1053688 |
| 735 | + | c, g | dbSNP:425073 |
| 747 | + | c, t | dbSNP:3194290 |
| 747 | + | c, t | dbSNP:395664 |
| complement(749) | - | t, c | dbSNP:12298348 |
| 750 | + | c, t | dbSNP:385476 |
| complement(753) | - | t, c | dbSNP:117030701 |
| 759 | + | a, g | dbSNP:1053692 |
| 769 | + | a, g | dbSNP:1132949 |
| 770 | + | a, g | dbSNP:1132950 |
| 793 | + | c, t | dbSNP:1132951 |
| 867 | + | c, t | dbSNP:11267005 |
| complement(867) | - | g, a | dbSNP:61730611 |
| 896 | + | c, t | dbSNP:437616 |
| 921 | + | c, t | dbSNP:3194297 |
| 943 | + | a, t | dbSNP:430612 |
| 1071 | + | c, t | dbSNP:11540289 |
| complement(1071) | - | g, a | dbSNP:4079521 |
| 1089 | + | a, g | dbSNP:15923 |
| 1141 | + | a, g | dbSNP:17099476 |
| complement(1141) | - | t, c | dbSNP:62619943 |
| complement(1203) | - | t, g | dbSNP:61746301 |
| 1232 | + | g, t | dbSNP:1132954 |
| 1239 | + | c, t | dbSNP:11540290 |
| 1259 | + | a, g | dbSNP:1132956 |
| 1263 | + | a, g | dbSNP:11540291 |
| 1263 | + | a, g | dbSNP:1132957 |
| 1269 | + | c, t | dbSNP:11540292 |
| 1305 | + | a, c | dbSNP:382367 |
| 1317 | + | c, t | dbSNP:1053702 |
| complement(1356) | - | t, c | dbSNP:61729952 |
| complement(1362) | - | t, c | dbSNP:3894847 |
| 1375 | + | c, t | dbSNP:11266757 |
| complement(1401) | - | t, c | dbSNP:112260566 |
| 1407 | + | c, t | dbSNP:1053703 |
| 1425 | + | c, t | dbSNP:1053704 |
| complement(1482) | - | g, c | dbSNP:11170142 |
| complement(1489) | - | t, c | dbSNP:412533 |
| 1504 | + | a, g | dbSNP:11540298 |
| 1512 | + | a, g | dbSNP:380215 |
| complement(1515) | - | t, c | dbSNP:391214 |
| 1515 | + | a, g | dbSNP:11540295 |
| 1525 | + | a, g | dbSNP:11540297 |
| 1551 | + | c, t | dbSNP:17418272 |
| 1551 | + | c, t | dbSNP:410562 |
| complement(1615) | - | t, c | dbSNP:112885852 |
| complement(1615) | - | c, a | dbSNP:61730610 |
| 1629 | + | c, t | dbSNP:1053722 |
| 1641 | + | c, t | dbSNP:1053727 |
| complement(1661) | - | g, c | dbSNP:71453291 |
| complement(1661) | - | g, c | dbSNP:77874079 |
| 1806 | + | c, t | dbSNP:2568 |
| 1819 | + | a, g, t | dbSNP:1053796 |
| 1822 | + | c, g | dbSNP:2567 |
| complement(1968) | - | t, a | dbSNP:79587378 |
| complement(1975) | - | t, g | dbSNP:583678 |
| 2027 | + | a, c | dbSNP:447151 |
| complement(2064) | - | g, a | dbSNP:372790 |
| 2086 | + | a, g | dbSNP:432498 |
| complement(2209) | - | t, a | dbSNP:77737438 |
| complement(2227) | - | g, a | dbSNP:56879750 |
| Gene Symbol | KRT6C |
| Gene Synonym | K6E; KRT6E; MGC102925; MGC163455; MGC163457 |
| Chromosome | 12 |
| Locus Map | 12q13.13 |
| All Transcripts | NM_173086 |
| Title | Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma . |
| Author | Bowden,P.E. |
| Journal | J. Invest. Dermatol. 130 (2), 336-338 (2010) |
| Title | Keratin K6c mutations cause focal palmoplantar keratoderma . |
| Author | Wilson,N.J., Messenger,A.G., Leachman,S.A., O'Toole,E.A., Lane,E.B., McLean,W.H. and Smith,F.J. |
| Journal | J. Invest. Dermatol. 130 (2), 425-429 (2010) |
| 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 | The finished DNA sequence of human chromosome 12 . |
| Author | Scherer,S.E., Muzny,D.M., Buhay,C.J., Chen,R., Cree,A., Ding,Y., Dugan-Rocha,S., Gill,R., Gunaratne,P., Harris,R.A., Hawes,A.C., Hernandez,J., Hodgson,A.V., Hume,J., Jackson,A., Khan,Z.M., Kovar-Smith,C., Lewis,L.R., Lozado,R.J., Metzker,M.L., Milosavljevic,A., Miner,G.R., Montgomery,K.T., Morgan,M.B., Nazareth,L.V., Scott,G., Sodergren,E., Song,X.Z., Steffen,D., Lovering,R.C., Wheeler,D.A., Worley,K.C., Yuan,Y., Zhang,Z., Adams,C.Q., Ansari-Lari,M.A., Ayele,M., Brown,M.J., Chen,G., Chen,Z., Clerc-Blankenburg,K.P., Davis,C., Delgado,O., Dinh,H.H., Draper,H., Gonzalez-Garay,M.L., Havlak,P., Jackson,L.R., Jacob,L.S., Kelly,S.H., Li,L., Li,Z., Liu,J., Liu,W., Lu,J., Maheshwari,M., Nguyen,B.V., Okwuonu,G.O., Pasternak,S., Perez,L.M., Plopper,F.J., Santibanez,J., Shen,H., Tabor,P.E., Verduzco,D., Waldron,L., Wang,Q., Williams,G.A., Zhang,J., Zhou,J., Allen,C.C., Amin,A.G., Anyalebechi,V., Bailey,M., Barbaria,J.A., Bimage,K.E., Bryant,N.P., Burch,P.E., Burkett,C.E., Burrell,K.L., Calderon,E., Cardenas,V., Carter,K., Casias,K., Cavazos,I., Cavazos,S.R., Ceasar,H., Chacko,J., Chan,S.N., Chavez,D., Christopoulos,C., Chu,J., Cockrell,R., Cox,C.D., Dang,M., Dathorne,S.R., David,R., Davis,C.M., Davy-Carroll,L., Deshazo,D.R., Donlin,J.E., D'Souza,L., Eaves,K.A., Egan,A., Emery-Cohen,A.J., Escotto,M., Flagg,N., Forbes,L.D., Gabisi,A.M., Garza,M., Hamilton,C., Henderson,N., Hernandez,O., Hines,S., Hogues,M.E., Huang,M., Idlebird,D.G., Johnson,R., Jolivet,A., Jones,S., Kagan,R., King,L.M., Leal,B., Lebow,H., Lee,S., LeVan,J.M., Lewis,L.C., London,P., Lorensuhewa,L.M., Loulseged,H., Lovett,D.A., Lucier,A., Lucier,R.L., Ma,J., Madu,R.C., Mapua,P., Martindale,A.D., Martinez,E., Massey,E., Mawhiney,S., Meador,M.G., Mendez,S., Mercado,C., Mercado,I.C., Merritt,C.E., Miner,Z.L., Minja,E., Mitchell,T., Mohabbat,F., Mohabbat,K., Montgomery,B., Moore,N., Morris,S., Munidasa,M., Ngo,R.N., Nguyen,N.B., Nickerson,E., Nwaokelemeh,O.O., Nwokenkwo,S., Obregon,M., Oguh,M., Oragunye,N., Oviedo,R.J., Parish,B.J., Parker,D.N., Parrish,J., Parks,K.L., Paul,H.A., Payton,B.A., Perez,A., Perrin,W., Pickens,A., Primus,E.L., Pu,L.L., Puazo,M., Quiles,M.M., Quiroz,J.B., Rabata,D., Reeves,K., Ruiz,S.J., Shao,H., Sisson,I., Sonaike,T., Sorelle,R.P., Sutton,A.E., Svatek,A.F., Svetz,L.A., Tamerisa,K.S., Taylor,T.R., Teague,B., Thomas,N., Thorn,R.D., Trejos,Z.Y., Trevino,B.K., Ukegbu,O.N., Urban,J.B., Vasquez,L.I., Vera,V.A., Villasana,D.M., Wang,L., Ward-Moore,S., Warren,J.T., Wei,X., White,F., Williamson,A.L., Wleczyk,R., Wooden,H.S., Wooden,S.H., Yen,J., Yoon,L., Yoon,V., Zorrilla,S.E., Nelson,D., Kucherlapati,R., Weinstock,G. and Gibbs,R.A. |
| Journal | Nature 440 (7082), 346-351 (2006) |
| Title | Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18 . |
| Author | Hesse,M., Magin,T.M. and Weber,K. |
| Journal | J. Cell. Sci. 114 (PT 14), 2569-2575 (2001) |
| Title | Phosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431 . |
| Author | Ku,N.O. and Omary,M.B. |
| Journal | J. Biol. Chem. 272 (11), 7556-7564 (1997) |
| Title | Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms . |
| Author | Takahashi,K., Paladini,R.D. and Coulombe,P.A. |
| Journal | J. Biol. Chem. 270 (31), 18581-18592 (1995) |
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