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Homo sapiens keratin 6A (KRT6A), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005554 Homo sapiens keratin 6A (KRT6A), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_005554.3, 126273584
Length 2450 bp
Structure linear
Update Date 03-MAY-2014
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)1317..>1652
Misc Feature(14)1449..1451
Misc Feature(15)1626..1901
Exon (1)1..749
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Exon (2)750..964
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Exon (3)965..1025
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Exon (4)1026..1121
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Exon (5)1122..1286
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Exon (6)1287..1412
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Exon (7)1413..1633
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Exon (8)1634..1668
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Exon (9)1669..2450
Gene:KRT6A
Gene Synonym:CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
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
215+c, tdbSNP:11540285
complement(231)-t, cdbSNP:372264347
complement(239)-g, adbSNP:369229884
complement(265)-t, cdbSNP:201201647
complement(271)-t, cdbSNP:17845411
complement(297)-g, adbSNP:368524604
complement(327)-g, adbSNP:375671619
complement(356)-g, adbSNP:367621240
complement(369)-g, cdbSNP:111569932
complement(372)-t, cdbSNP:374545789
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(495)-t, cdbSNP:372112762
complement(497)-g, adbSNP:368455216
complement(498)-t, cdbSNP:200254647
complement(541)-g, adbSNP:681063
complement(543)-g, adbSNP:374275838
complement(572)-g, adbSNP:370840968
complement(584)-g, adbSNP:200967849
complement(602)-t, gdbSNP:184577522
complement(605)-t, adbSNP:377196186
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
696+a, gdbSNP:267607464
700+c, gdbSNP:62635293
complement(704)-t, cdbSNP:376545
706+a, cdbSNP:267607460
709+a, g, tdbSNP:57126929
717+c, tdbSNP:57448541
720+a, g, tdbSNP:62635294
721+a, c, gdbSNP:58556099
722+a, cdbSNP:59685571
723..725+, aacdbSNP:267607459
729+c, g, tdbSNP:28933087
730+c, g, tdbSNP:61145796
735+c, tdbSNP:59642296
742+a, tdbSNP:267607461
complement(754)-dbSNP:
complement(754)-t, cdbSNP:367973525
complement(776)-t, cdbSNP:7298145
complement(777)-t, cdbSNP:371455502
complement(788)-t, cdbSNP:368555326
complement(837)-t, gdbSNP:144401677
complement(845)-t, cdbSNP:371264380
complement(870)-g, adbSNP:368436863
complement(877)-t, cdbSNP:200977095
complement(879)-g, cdbSNP:370627541
complement(889)-t, cdbSNP:200763387
complement(893)-g, adbSNP:201568563
complement(896)-g, adbSNP:201950477
complement(904)-t, cdbSNP:149632009
complement(909)-g, adbSNP:370031805
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(969)-dbSNP:
complement(969)-t, cdbSNP:370032292
complement(988)-t, cdbSNP:376821206
complement(995)-t, cdbSNP:373623240
complement(996)-t, cdbSNP:369296947
complement(1028)-dbSNP:
complement(1028)-g, adbSNP:12578949
complement(1031)-c, adbSNP:368725695
complement(1071)-t, cdbSNP:376480528
complement(1088)-g, adbSNP:398542
complement(1131..1132)-dbSNP:
complement(1131..1132)-, gdbSNP:35052919
complement(1148)-t, gdbSNP:374415163
complement(1156)-g, cdbSNP:201208927
complement(1160)-g, adbSNP:432834
complement(1169)-t, cdbSNP:370500
complement(1171)-g, adbSNP:372287870
complement(1181)-t, gdbSNP:368061297
complement(1185)-g, adbSNP:373927281
complement(1206)-t, cdbSNP:370221157
complement(1212)-t, cdbSNP:140989962
complement(1213)-g, cdbSNP:374286502
complement(1234)-t, cdbSNP:200194396
complement(1250)-t, cdbSNP:187791200
1254+a, cdbSNP:1053699
complement(1274)-t, cdbSNP:138331383
1283+a, cdbSNP:1132953
complement(1289)-dbSNP:
complement(1289)-g, adbSNP:374430447
complement(1290)-t, cdbSNP:369911781
complement(1302)-t, cdbSNP:376633846
complement(1325)-g, adbSNP:372043088
complement(1332)-g, adbSNP:368272363
complement(1340)-g, cdbSNP:374230378
complement(1351)-g, adbSNP:201750033
complement(1366)-t, cdbSNP:371739150
complement(1378)-t, cdbSNP:373694426
complement(1400)-g, adbSNP:202094973
complement(1407)-t, gdbSNP:199654876
complement(1416)-dbSNP:
complement(1416)-t, cdbSNP:372637888
complement(1430)-g, adbSNP:369027797
complement(1432)-g, adbSNP:201401681
complement(1442)-g, adbSNP:374013120
complement(1452)-g, adbSNP:369800257
complement(1453)-t, cdbSNP:61730612
complement(1478)-g, adbSNP:145246640
complement(1491)-t, cdbSNP:371779435
complement(1494)-g, cdbSNP:190973167
complement(1499)-c, adbSNP:368052661
1512+c, tdbSNP:267607467
complement(1513)-t, cdbSNP:376008138
complement(1536)-g, adbSNP:62617089
complement(1537)-t, cdbSNP:186117617
complement(1547)-t, cdbSNP:201046313
complement(1578)-c, adbSNP:367788212
complement(1580)-g, cdbSNP:371399727
complement(1586)-g, adbSNP:368523101
complement(1587)-t, c, adbSNP:180935064
1590+a, c, gdbSNP:267607468
1594+a, g, tdbSNP:57629991
complement(1595)-g, adbSNP:370853930
1596+c, gdbSNP:267607462
1599+a, cdbSNP:61293647
1602+c, tdbSNP:267607463
1603+a, gdbSNP:267607469
complement(1606)-t, cdbSNP:376556886
1612+a, c, tdbSNP:59018888
1615+c, g, tdbSNP:57052654
1622+c, tdbSNP:1132960
1623+a, gdbSNP:60554162
1625+c, gdbSNP:267607470
complement(1644)-dbSNP:
complement(1644)-t, cdbSNP:369674600
complement(1650)-t, cdbSNP:201376827
complement(1658)-t, cdbSNP:372218481
complement(1664)-g, adbSNP:200693998
complement(1665)-t, cdbSNP:150913083
1673+dbSNP:
1673+a, gdbSNP:3194315
complement(1685)-g, adbSNP:200390705
complement(1686)-t, cdbSNP:201432146
complement(1703)-g, adbSNP:374239834
complement(1704)-t, cdbSNP:370904942
complement(1718)-g, adbSNP:376504088
1720..1721+, gdbSNP:267607471
complement(1733)-g, adbSNP:373751709
complement(1776)-c, adbSNP:62617088
1784+c, tdbSNP:1053718
complement(1811)-t, gdbSNP:376474194
1813+a, c, tdbSNP:1053734
complement(1816)-t, cdbSNP:376333253
complement(1822)-g, cdbSNP:200198490
complement(1842)-t, cdbSNP:201826031
1864+c, gdbSNP:11540301
complement(1884)-t, cdbSNP:201823807
1895+c, tdbSNP:1053740
1903+a, gdbSNP:1053741
complement(1910)-t, cdbSNP:200885123
complement(1912)-g, cdbSNP:371708620
1913+c, tdbSNP:3204925
1916+c, tdbSNP:1053745
complement(1923)-g, adbSNP:202133726
1924+a, gdbSNP:1053748
complement(1928)-g, cdbSNP:376487686
complement(1930)-t, cdbSNP:372901135
complement(1932)-t, cdbSNP:199818997
complement(1933)-g, cdbSNP:201116384
1944..1945+c, tdbSNP:11544884
1945+c, tdbSNP:3194366
1954+a, tdbSNP:1053770
1978+c, tdbSNP:1053795
complement(1980)-c, adbSNP:28667515
1986+c, tdbSNP:1053803
complement(2003)-g, adbSNP:372195223
2009+c, tdbSNP:1063922
2010+c, gdbSNP:1053825
2015+a, gdbSNP:1063923
2028+g, tdbSNP:1053854
2032+a, gdbSNP:1053857
2045+c, tdbSNP:1063931
complement(2062)-g, adbSNP:11544880
complement(2065)-t, gdbSNP:181234451
2067+a, gdbSNP:1063939
2071+a, cdbSNP:3204962
complement(2096)-g, cdbSNP:76154868
complement(2146..2147)-, aadbSNP:397785715
complement(2147..2148)-, aadbSNP:10656649
complement(2184)-t, adbSNP:189193366
complement(2187)-g, adbSNP:11544881
complement(2283)-t, gdbSNP:140939076
2409+a, gdbSNP:1054122
2412+c, gdbSNP:1133153
complement(2435)-t, cdbSNP:75743814
Gene SymbolKRT6A
Gene SynonymCK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6C; KRT6D; PC3
Chromosome12
Locus Map12q13.13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005554 Homo sapiens keratin 6A (KRT6A), mRNA. In-stock $509.00 $460.00 12
Title A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita .
Author Eliason MJ, Leachman SA, Feng BJ, Schwartz ME and Hansen CD.
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 ZF, Xu CM, Zhao Y, Liu WT, Chen XL, Chen CY, Fang H, Ke HP and Zhang XN.
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 KM, Hogendorf AM, Smith FJ, Lingala B, Schwartz ME, Cywinska-Bernas A, Zeman KJ and Tang JY.
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 TS, Barnes M and Tabatabai ZL.
Journal Acta Cytol. 56 (5), 527-532 (2012)
Title Pachyonychia congenita with laryngeal obstruction .
Author Haber RM 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 RD and Coulombe PA.
Journal J. Biol. Chem. 270 (31), 18581-18592 (1995)
Title Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins .
Author Kouklis PD, Hutton E and Fuchs E.
Journal J. Cell Biol. 127 (4), 1049-1060 (1994)
Title Pachyonychia Congenita .
Author Smith,F.J.D., Hansen,C.D., Hull,P.R., Leachman,S.A., Kaspar,R.L., Schwartz,M.E., McLean,W.H.I., Milstone,L.M. and Sprecher,E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12 .
Author Rosenberg M, Fuchs E, Le Beau MM, Eddy RL and Shows TB.
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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