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Homo sapiens keratin 6A (KRT6A), mRNA.


RefSeq Accession Definition Services Price Order
NM_005554 Homo sapiens keratin 6A (KRT6A), mRNA. ORF Sequence $491.55
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RefSeq Version NM_005554.3, 126273584
Length 2450 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens keratin 6A (KRT6A), mRNA.
Product keratin, type II cytoskeletal 6A
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. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008].

RefSeq NP_005545.1
CDS 210..1904
Misc Feature(1)114..116
Misc Feature(2)114..116
Misc Feature(3)213..695
Misc Feature(4)213..695
Misc Feature(5)213..215
Misc Feature(6)693..1634
Misc Feature(7)696..1625
Misc Feature(8)696..803
Misc Feature(9)804..860
Misc Feature(10)861..1136
Misc Feature(11)1137..1208
Misc Feature(12)1209..1625
Misc Feature(13)1449..1451
Misc Feature(14)1626..1901
Exon (1)1..749
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Exon (2)750..964
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Exon (3)965..1025
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Exon (4)1026..1121
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Exon (5)1122..1286
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Exon (6)1287..1412
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Exon (7)1413..1633
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Exon (8)1634..1668
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Exon (9)1669..2450
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Translation MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSVSRSRGSGGLGGACGGAGFGSRS LYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAG GFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPTIQRVRAEEREQIKTLNNKFASFIDK VRFLEQQNKVLETKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELR GMQDLVEDFKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRA LYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKY EELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMAL KDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG VGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRAIGGGLS SVGGGSSTIKYTTTSSSSRKSYKH
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Position Chain Variation Link
complement(150)-g, adbSNP:7313756
complement(191)-g, adbSNP:2939599
complement(215)-t, cdbSNP:11540285
complement(265)-t, cdbSNP:201201647
complement(271)-t, cdbSNP:17845411
complement(369)-g, cdbSNP:111569932
complement(389)-g, adbSNP:199677961
complement(390)-g, adbSNP:201545589
complement(392)-t, cdbSNP:200231214
complement(407)-t, gdbSNP:201927660
complement(471)-t, cdbSNP:201156103
complement(498)-t, cdbSNP:200254647
complement(541)-g, adbSNP:681063
complement(584)-g, adbSNP:200967849
complement(602)-t, gdbSNP:184577522
complement(626)-g, adbSNP:1707768
complement(627)-t, cdbSNP:201221663
complement(665)-g, adbSNP:1707767
complement(669)-g, c, adbSNP:11836126
complement(681)-t, gdbSNP:201896183
complement(692)-g, adbSNP:711317
complement(696)-g, adbSNP:267607464
complement(700)-g, cdbSNP:62635293
complement(704)-t, cdbSNP:376545
complement(706)-c, adbSNP:267607460
complement(709)-t, g, adbSNP:57126929
complement(717)-t, cdbSNP:57448541
complement(720)-t, g, adbSNP:62635294
complement(721)-g, c, adbSNP:58556099
complement(722)-c, adbSNP:59685571
complement(723..725)-, aacdbSNP:267607459
complement(729)-t, gdbSNP:28933087
complement(730)-t, g, cdbSNP:61145796
complement(735)-t, cdbSNP:59642296
complement(742)-t, adbSNP:267607461
complement(776)-dbSNP:
complement(776)-t, cdbSNP:7298145
complement(837)-t, gdbSNP:144401677
complement(877)-t, cdbSNP:200977095
complement(889)-t, cdbSNP:200763387
complement(893)-g, adbSNP:201568563
complement(896)-g, adbSNP:201950477
complement(904)-t, cdbSNP:149632009
complement(914)-t, cdbSNP:201153696
complement(920)-t, cdbSNP:199531479
complement(927)-t, cdbSNP:199528324
complement(930)-t, cdbSNP:201663666
complement(931)-t, cdbSNP:199613662
complement(954)-g, adbSNP:201142403
complement(1028)-dbSNP:
complement(1028)-g, adbSNP:12578949
complement(1088)-g, adbSNP:398542
complement(1131..1132)-dbSNP:
complement(1131..1132)-, gdbSNP:35052919
complement(1156)-g, cdbSNP:201208927
complement(1160)-g, adbSNP:432834
complement(1169)-t, cdbSNP:370500
complement(1212)-t, cdbSNP:140989962
complement(1234)-t, cdbSNP:200194396
complement(1250)-t, cdbSNP:187791200
complement(1254)-c, adbSNP:1053699
complement(1274)-t, cdbSNP:138331383
complement(1283)-c, adbSNP:1132953
complement(1351)-dbSNP:
complement(1351)-g, adbSNP:201750033
complement(1400)-g, adbSNP:202094973
complement(1407)-t, gdbSNP:199654876
complement(1432)-dbSNP:
complement(1432)-g, adbSNP:201401681
complement(1453)-t, cdbSNP:61730612
complement(1478)-g, adbSNP:145246640
complement(1494)-g, cdbSNP:190973167
complement(1512)-t, cdbSNP:267607467
complement(1536)-g, adbSNP:62617089
complement(1537)-t, cdbSNP:186117617
complement(1547)-t, cdbSNP:201046313
complement(1587)-t, c, adbSNP:180935064
complement(1590)-g, c, adbSNP:267607468
complement(1594)-t, g, adbSNP:57629991
complement(1596)-g, cdbSNP:267607462
complement(1599)-c, adbSNP:61293647
complement(1602)-t, cdbSNP:267607463
complement(1603)-g, adbSNP:267607469
complement(1612)-t, c, adbSNP:59018888
complement(1615)-t, g, cdbSNP:57052654
complement(1622)-t, cdbSNP:1132960
complement(1623)-g, adbSNP:60554162
complement(1625)-g, cdbSNP:267607470
complement(1650)-dbSNP:
complement(1650)-t, cdbSNP:201376827
complement(1664)-g, adbSNP:200693998
complement(1665)-t, cdbSNP:150913083
complement(1673)-dbSNP:
complement(1673)-g, adbSNP:3194315
complement(1685)-g, adbSNP:200390705
complement(1686)-t, cdbSNP:201432146
complement(1720..1721)-, gdbSNP:267607471
complement(1776)-c, adbSNP:62617088
complement(1784)-t, cdbSNP:1053718
complement(1813)-t, cdbSNP:1053734
complement(1822)-g, cdbSNP:200198490
complement(1842)-t, cdbSNP:201826031
complement(1864)-g, cdbSNP:11540301
complement(1884)-t, cdbSNP:201823807
complement(1895)-t, cdbSNP:1053740
complement(1903)-g, adbSNP:1053741
complement(1910)-t, cdbSNP:200885123
complement(1913)-t, cdbSNP:3204925
complement(1916)-t, cdbSNP:1053745
complement(1923)-g, adbSNP:202133726
complement(1924)-g, adbSNP:1053748
complement(1932)-t, cdbSNP:199818997
complement(1933)-g, cdbSNP:201116384
complement(1944..1945)-t, cdbSNP:11544884
complement(1945)-t, cdbSNP:3194366
complement(1954)-t, adbSNP:1053770
complement(1978)-t, cdbSNP:1053795
complement(1980)-c, adbSNP:28667515
complement(1986)-t, cdbSNP:1053803
complement(2009)-t, cdbSNP:1063922
complement(2010)-g, cdbSNP:1053825
complement(2015)-g, adbSNP:1063923
complement(2028)-t, gdbSNP:1053854
complement(2032)-g, adbSNP:1053857
complement(2045)-t, cdbSNP:1063931
complement(2062)-g, adbSNP:11544880
complement(2065)-t, gdbSNP:181234451
complement(2067)-g, adbSNP:1063939
complement(2071)-c, adbSNP:3204962
complement(2096)-g, cdbSNP:76154868
complement(2146..2147)-, aadbSNP:10656649
complement(2149..2150)-, aadbSNP:139063530
complement(2184)-t, adbSNP:189193366
complement(2187)-g, adbSNP:11544881
complement(2283)-t, gdbSNP:140939076
complement(2409)-g, adbSNP:1054122
complement(2412)-g, cdbSNP:1133153
complement(2435)-t, cdbSNP:75743814
Gene SymbolKRT6A
Gene SynonymCK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D
Chromosome12
Locus Map12q13.13
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_005554 Homo sapiens keratin 6A (KRT6A), mRNA. Full Length $710.50
ORF Sequence $491.55
Title A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita .
Author Eliason,M.J., Leachman,S.A., Feng,B.J., Schwartz,M.E. and Hansen,C.D.
Journal J. Am. Acad. Dermatol. 67 (4), 680-686 (2012)
Title Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma .
Author Du,Z.F., Xu,C.M., Zhao,Y., Liu,W.T., Chen,X.L., Chen,C.Y., Fang,H., Ke,H.P. and Zhang,X.N.
Journal Eur J Dermatol 22 (4), 476-480 (2012)
Title Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16 .
Author Spaunhurst,K.M., Hogendorf,A.M., Smith,F.J., Lingala,B., Schwartz,M.E., Cywinska-Bernas,A., Zeman,K.J. and Tang,J.Y.
Journal Br. J. Dermatol. 166 (4), 875-878 (2012)
Title The diagnostic utility of D2-40, calretinin, CK5/6, desmin and MOC-31 in the differentiation of mesothelioma from adenocarcinoma in pleural effusion cytology .
Author Hyun,T.S., Barnes,M. and Tabatabai,Z.L.
Journal Acta Cytol. 56 (5), 527-532 (2012)
Title Pachyonychia congenita with laryngeal obstruction .
Author Haber,R.M. and Drummond,D.
Journal Pediatr Dermatol 28 (4), 429-432 (2011)
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)
Title Mutation of a type II keratin gene (K6a) in pachyonychia congenita .
Author Bowden,P.E., Haley,J.L., Kansky,A., Rothnagel,J.A., Jones,D.O. and Turner,R.J.
Journal Nat. Genet. 10 (3), 363-365 (1995)
Title Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins .
Author Kouklis,P.D., Hutton,E. and Fuchs,E.
Journal J. Cell Biol. 127 (4), 1049-1060 (1994)
Title Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12 .
Author Rosenberg,M., Fuchs,E., Le Beau,M.M., Eddy,R.L. and Shows,T.B.
Journal Cytogenet. Cell Genet. 57 (1), 33-38 (1991)
Title The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins .
Author Hanukoglu,I. and Fuchs,E.
Journal Cell 33 (3), 915-924 (1983)

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