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Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu23856 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu23856C Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001363.4, 570700849
Length 1545 bp
Structure linear
Update Date 11-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.
Product H/ACA ribonucleoprotein complex subunit 4 isoform 1
Comment

Summary: This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].


Transcript Variant: This variant (1) encodes the longest isoform (1).

RefSeq NP_001354.1
CDS 225..1769
Misc Feature(1)228..287
Misc Feature(2)228..287
Misc Feature(3)228..230
Misc Feature(4)285..287
Misc Feature(5)285..287
Misc Feature(6)366..542
Misc Feature(7)390..1367
Misc Feature(8)486..1034
Misc Feature(9)order(588..599,903..905)
Misc Feature(10)1113..1334
Misc Feature(11)1560..1766
Misc Feature(12)1575..1577
Misc Feature(13)1575..1577
Misc Feature(14)1581..1583
Misc Feature(15)1581..1583
Misc Feature(16)1587..1589
Misc Feature(17)1587..1589
Misc Feature(18)1596..1598
Misc Feature(19)1677..1679
Misc Feature(20)1704..1706
Misc Feature(21)1704..1706
Misc Feature(22)1704..1706
Misc Feature(23)1710..1712
Misc Feature(24)1713..1715
Misc Feature(25)1761..1763
Misc Feature(26)1761..1763
Exon (1)1..240
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (2)241..308
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (3)309..395
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (4)396..487
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (5)488..672
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (6)673..737
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (7)738..864
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (8)865..995
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (9)996..1139
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (10)1140..1260
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (11)1261..1379
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (12)1380..1483
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (13)1484..1562
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (14)1563..1700
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (15)1701..2591
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Translation MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
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Position Chain Variation Link
83+dbSNP:
83+c, gdbSNP:199422241
154+c, tdbSNP:370861650
182+c, tdbSNP:372512982
186+c, gdbSNP:377108299
205+c, tdbSNP:369686351
210+a, gdbSNP:373433875
229+c, tdbSNP:121912303
253+dbSNP:
253+c, tdbSNP:199422242
265+a, gdbSNP:376632263
308+c, tdbSNP:142474971
315+dbSNP:
315+a, c, gdbSNP:137854491
321+a, gdbSNP:372511229
330+g, tdbSNP:121912293
333..335+, cttdbSNP:137854489
339+a, gdbSNP:121912296
343+c, gdbSNP:121912292
345+a, gdbSNP:121912302
351+a, gdbSNP:199422243
362+a, gdbSNP:369777662
370+c, tdbSNP:121912304
390..391+ct, tcdbSNP:121912287
418+dbSNP:
418+c, gdbSNP:121912301
420+a, gdbSNP:121912297
424+c, tdbSNP:199422244
428+a, cdbSNP:199422245
438..439+ct, tadbSNP:121912294
438+c, tdbSNP:121912306
451+a, cdbSNP:2853347
516+dbSNP:
516+c, tdbSNP:11558982
521+c, tdbSNP:201963962
585+a, gdbSNP:121912305
593+a, g, tdbSNP:2728532
623+c, tdbSNP:140714103
639+a, gdbSNP:374799227
696+dbSNP:
696+c, tdbSNP:199422246
845+dbSNP:
845+c, tdbSNP:371421366
846+a, gdbSNP:374771308
880+dbSNP:
880+a, gdbSNP:5945234
892+a, gdbSNP:2728533
complement(901)-t, gdbSNP:2728534
941+c, tdbSNP:372842795
1000+dbSNP:
1000+a, cdbSNP:61757608
1062+a, cdbSNP:146700772
1070+a, gdbSNP:2853350
1075+a, gdbSNP:200438009
1077+g, tdbSNP:17850575
1135+a, gdbSNP:199422247
1165+dbSNP:
1165+a, gdbSNP:199422248
1173+c, g, tdbSNP:121912290
1189+a, gdbSNP:121912291
1199+c, tdbSNP:374103494
1200+a, gdbSNP:140273992
1202+c, tdbSNP:145325102
1273+dbSNP:
1273+c, tdbSNP:121912300
1274+a, gdbSNP:121912298
1282+c, tdbSNP:121912288
1283+a, gdbSNP:375274293
1293+a, gdbSNP:137854492
1299+a, gdbSNP:199422249
1373+c, tdbSNP:2853355
1374+c, tdbSNP:199422250
1375+c, tdbSNP:199422251
1380+dbSNP:
1380+a, gdbSNP:199422252
1391+a, gdbSNP:369066088
1417+c, tdbSNP:199422253
1428+a, gdbSNP:121912299
1429+a, gdbSNP:121912295
1430+a, gdbSNP:199803984
1447+c, tdbSNP:199422254
1450+c, tdbSNP:121912289
1472+c, tdbSNP:371321732
1517+dbSNP:
1517+a, gdbSNP:138065506
1529+a, gdbSNP:189466923
1541+c, tdbSNP:143207180
1556+a, tdbSNP:373010861
1577+dbSNP:
1577+a, tdbSNP:370788135
1592+c, tdbSNP:143209714
1655+a, gdbSNP:3752356
1680+a, gdbSNP:150319104
1685+c, tdbSNP:1127051
1703+dbSNP:
1703+c, tdbSNP:147447481
1748+g, tdbSNP:186518477
1762+a, cdbSNP:138410549
1775+a, c, gdbSNP:1800533
1787+c, tdbSNP:113386014
1798+a, cdbSNP:11795799
1809+c, tdbSNP:143263287
1866+a, gdbSNP:7878787
2082+c, tdbSNP:141487608
2149+g, tdbSNP:191271657
Gene SymbolDKC1
Gene SynonymCBF5; DKC; DKCX; NAP57; NOLA4; XAP101
ChromosomeX
Locus MapXq28
Title Intron retention: a human DKC1 gene common splicing event .
Author Turano M, Angrisani A, Di Maio N and Furia M.
Journal Biochem. Cell Biol. 91 (6), 506-512 (2013)
Title Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene .
Author Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, Lieblich LM, Auerbach R, Auerbach AD, Wheelan SJ and Armanios M.
Journal Hum. Mutat. 34 (11), 1481-1485 (2013)
Title Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects .
Author Brault ME, Lauzon C and Autexier C.
Journal Hum. Mol. Genet. 22 (17), 3498-3507 (2013)
Title A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex .
Author Vogiatzi P, Perdigones N, Mason PJ, Wilson DB and Bessler M.
Journal Pediatr Blood Cancer 60 (6), E4-E6 (2013)
Title DKC1 gene mutations in human sporadic cancer .
Author Penzo M, Casoli L, Ceccarelli C, Trere D, Ludovini V, Crino L and Montanaro L.
Journal Histol. Histopathol. 28 (3), 365-372 (2013)
Title A new human dyskerin isoform with cytoplasmic localization .
Author Angrisani A, Turano M, Paparo L, Di Mauro C and Furia M.
Journal Biochim. Biophys. Acta 1810 (12), 1361-1368 (2011)
Title X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions .
Author Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A and Dokal I.
Journal Nat. Genet. 19 (1), 32-38 (1998)
Title Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita .
Author Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, van Geet C, Degreef H, Cassiman JJ and Fryns JP.
Journal Am. J. Hum. Genet. 60 (3), 581-587 (1997)
Title The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia .
Author Aalfs CM, van den Berg H, Barth PG and Hennekam RC.
Journal Eur. J. Pediatr. 154 (4), 304-308 (1995)
Title Dyskeratosis Congenita .
Author Savage,S.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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