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Homo sapiens keratin 86 (KRT86), mRNA.


RefSeq Accession Definition Services Price Order
NM_002284 Homo sapiens keratin 86 (KRT86), mRNA. ORF Sequence $423.69
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_002284.3, 109637786
Length 2091 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens keratin 86 (KRT86), mRNA.
Product keratin, type II cuticular Hb6
Comment

Summary: The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008].

RefSeq NP_002275.1
CDS 53..1513
Misc Feature(1)53..370
Misc Feature(2)53..370
Misc Feature(3)365..1300
Misc Feature(4)371..1291
Misc Feature(5)371..475
Misc Feature(6)476..505
Misc Feature(7)506..808
Misc Feature(8)809..859
Misc Feature(9)860..1291
Misc Feature(10)1292..1510
Exon (1)1..421
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Exon (2)422..630
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Exon (3)631..691
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Exon (4)692..787
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Exon (5)788..952
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Exon (6)953..1078
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Exon (7)1079..1299
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Exon (8)1300..1331
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Exon (9)1332..2091
Gene:KRT86
Gene Synonym:Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Translation MTCGSYCGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCG RSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAF IDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASEL NHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLR RLYEEEIRVLQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSK CEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAA LSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEG VGSVNVCVSSSRGGVVCGDLCASTTAPVVSTRVSSVPSNSNVVVGTTNACAPSARVGVCG GSCKRC
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Position Chain Variation Link
20+a, cdbSNP:56016927
68+c, tdbSNP:117662922
79+a, cdbSNP:201329364
100+c, gdbSNP:199538989
106+c, tdbSNP:74651927
112+c, gdbSNP:201694571
130+c, tdbSNP:201420491
139+c, tdbSNP:112261068
159+a, cdbSNP:202141424
249+a, c, g, tdbSNP:57242951
349+a, gdbSNP:199751260
392+a, c, gdbSNP:61091894
400+a, c, g, tdbSNP:58580222
405+a, cdbSNP:60612575
468+dbSNP:
468+a, c, g, tdbSNP:58717266
688+dbSNP:
688+a, gdbSNP:144317368
693+dbSNP:
693+a, gdbSNP:56677856
713+c, tdbSNP:199678774
718+a, gdbSNP:201521867
736+c, tdbSNP:200750977
757+g, tdbSNP:200085173
771+a, gdbSNP:201433700
773+c, tdbSNP:111429470
780+a, gdbSNP:202150817
784+a, gdbSNP:78831098
796+dbSNP:
796+c, tdbSNP:58523335
797+a, gdbSNP:61914259
808+c, gdbSNP:61915660
823+c, gdbSNP:112956699
880+c, tdbSNP:200472524
914+c, tdbSNP:199724105
925+c, tdbSNP:190756867
932+a, gdbSNP:183358379
944+c, tdbSNP:201943606
945+a, gdbSNP:199840628
963+dbSNP:
963+c, tdbSNP:201760569
985+c, tdbSNP:144028073
1031+c, tdbSNP:139895699
1054+a, gdbSNP:2032360
1060+a, gdbSNP:202026667
1088+dbSNP:
1088+c, tdbSNP:191545221
1096+c, tdbSNP:4761788
1098+c, tdbSNP:201286632
1105+c, tdbSNP:28733260
1121+c, gdbSNP:201484793
1131+c, tdbSNP:202169108
1138+c, tdbSNP:11170086
1145+c, tdbSNP:201833908
1154+c, tdbSNP:11170087
1160+g, tdbSNP:200353690
1171+c, tdbSNP:11170088
1256+a, c, gdbSNP:60687604
1275+a, gdbSNP:199951808
1289+a, gdbSNP:121909129
1291+g, tdbSNP:121909130
1394+dbSNP:
1394+a, c, gdbSNP:200098470
1497+c, gdbSNP:4313620
1509+a, gdbSNP:201740931
1516+a, gdbSNP:148309398
1559+a, cdbSNP:201257801
1607+a, gdbSNP:2280949
1640+c, tdbSNP:4076515
1722+a, gdbSNP:185290279
1733+a, gdbSNP:188381439
1777+a, gdbSNP:1137013
1783..1784+, ttdbSNP:111847567
1785..1786+, t, ttdbSNP:3215437
1800+a, gdbSNP:1137014
1825+c, tdbSNP:1137015
1871+a, gdbSNP:116249711
1983+c, gdbSNP:141418442
Gene SymbolKRT86
Gene SynonymHb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Chromosome12
Locus Map12q13
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_002284 Homo sapiens keratin 86 (KRT86), mRNA. Full Length $606.39
ORF Sequence $423.69
Title Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation .
Author Feng,Y.G., Xiao,S.X., Xu,A.L., Feng,J.Y. and Wang,J.M.
Journal J. Dermatol. 39 (9), 817-819 (2012)
Title A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance .
Author De Cruz,R., Horev,L., Green,J., Babay,S., Sladden,M., Zlotogorski,A. and Sinclair,R.
Journal Br. J. Dermatol. 166 (SUPPL 2), 20-26 (2012)
Title Mutation E402K of the hHb6 in a Chinese Han family with monilethrix .
Author ZHANG,S.D., MENG,J., ZHAO,J.J. and TIAN,W.
Journal Eur J Dermatol 19 (5), 508-509 (2009)
Title [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix] .
Author Feng,A.P., Liu,P. and Yang,T.
Journal Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25 (2), 141-144 (2008)
Title hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes .
Author Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M.
Journal Genomics 89 (3), 307-315 (2007)
Title Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6 .
Author Winter,H., Clark,R.D., Tarras-Wahlberg,C., Rogers,M.A. and Schweizer,J.
Journal J. Invest. Dermatol. 113 (2), 263-266 (1999)
Title Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle .
Author Bowden,P.E., Hainey,S.D., Parker,G., Jones,D.O., Zimonjic,D., Popescu,N. and Hodgins,M.B.
Journal J. Invest. Dermatol. 110 (2), 158-164 (1998)
Title A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix .
Author Winter,H., Rogers,M.A., Gebhardt,M., Wollina,U., Boxall,L., Chitayat,D., Babul-Hirji,R., Stevens,H.P., Zlotogorski,A. and Schweizer,J.
Journal Hum. Genet. 101 (2), 165-169 (1997)
Title Sequences and differential expression of three novel human type-II hair keratins .
Author Rogers,M.A., Langbein,L., Praetzel,S., Moll,I., Krieg,T., Winter,H. and Schweizer,J.
Journal Differentiation 61 (3), 187-194 (1997)
Title Sequence data and chromosomal localization of human type I and type .
Author Rogers,M.A., Nischt,R., Korge,B., Krieg,T., Fink,T.M., Lichter,P., Winter,H. and Schweizer,J.
Journal Exp. Cell Res. 220 (2), 357-362 (1995)

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