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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001363 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_001363.3, 215598984
Length 2594 bp
Structure linear
Update Date 17-APR-2013
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 is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_001354.1
CDS 211..1755
Misc Feature(1)214..273
Misc Feature(2)214..273
Misc Feature(3)214..216
Misc Feature(4)271..273
Misc Feature(5)271..273
Misc Feature(6)352..528
Misc Feature(7)376..1353
Misc Feature(8)472..1020
Misc Feature(9)order(574..585,889..891)
Misc Feature(10)1099..1320
Misc Feature(11)1546..1752
Misc Feature(12)1561..1563
Misc Feature(13)1561..1563
Misc Feature(14)1567..1569
Misc Feature(15)1567..1569
Misc Feature(16)1573..1575
Misc Feature(17)1573..1575
Misc Feature(18)1582..1584
Misc Feature(19)1663..1665
Misc Feature(20)1690..1692
Misc Feature(21)1690..1692
Misc Feature(22)1690..1692
Misc Feature(23)1696..1698
Misc Feature(24)1699..1701
Misc Feature(25)1747..1749
Misc Feature(26)1747..1749
Exon (1)1..226
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (2)227..294
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (3)295..381
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (4)382..473
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (5)474..658
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (6)659..723
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (7)724..850
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (8)851..981
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (9)982..1125
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (10)1126..1246
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (11)1247..1365
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (12)1366..1469
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (13)1470..1548
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (14)1549..1686
Gene:DKC1
Gene Synonym:CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
Exon (15)1687..2577
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
69+dbSNP:
69+c, gdbSNP:199422241
215+c, tdbSNP:121912303
239+dbSNP:
239+c, tdbSNP:199422242
266+a, gdbSNP:148764075
294+c, tdbSNP:142474971
301+dbSNP:
301+a, c, gdbSNP:137854491
316+g, tdbSNP:121912293
319..321+, cttdbSNP:137854489
319..320+ct, tadbSNP:137854490
323+c, tdbSNP:28936072
325+a, gdbSNP:121912296
329+c, gdbSNP:121912292
331+a, gdbSNP:121912302
337+a, gdbSNP:199422243
356+c, tdbSNP:121912304
376..377+ct, tcdbSNP:121912287
404+dbSNP:
404+c, gdbSNP:121912301
406+a, gdbSNP:121912297
410+c, tdbSNP:199422244
414+a, cdbSNP:199422245
424..425+ct, tadbSNP:121912294
424+c, tdbSNP:121912306
437+a, cdbSNP:2853347
502+dbSNP:
502+c, tdbSNP:11558982
507+c, tdbSNP:201963962
571+a, gdbSNP:121912305
579+a, g, tdbSNP:2728532
609+c, tdbSNP:140714103
682+dbSNP:
682+c, tdbSNP:199422246
866+dbSNP:
866+a, gdbSNP:5945234
878+a, gdbSNP:2728533
887+g, tdbSNP:2728534
986+dbSNP:
986+a, cdbSNP:61757608
1048+a, cdbSNP:146700772
1056+a, gdbSNP:2853350
1061+a, gdbSNP:200438009
1063+g, tdbSNP:17850575
1121+a, gdbSNP:199422247
1151+dbSNP:
1151+a, gdbSNP:199422248
1159+c, g, tdbSNP:121912290
1171+a, c, gdbSNP:2728726
1175+a, gdbSNP:121912291
1186+a, gdbSNP:140273992
1188+c, tdbSNP:145325102
1259+dbSNP:
1259+c, tdbSNP:121912300
1260+a, gdbSNP:121912298
1268+c, tdbSNP:121912288
1279+a, gdbSNP:137854492
1285+a, gdbSNP:199422249
1359+c, tdbSNP:2853355
1360+c, tdbSNP:199422250
1361+c, tdbSNP:199422251
1366+dbSNP:
1366+a, gdbSNP:199422252
1403+c, tdbSNP:199422253
1414+a, gdbSNP:121912299
1415+a, gdbSNP:121912295
1416+a, gdbSNP:199803984
1433+c, tdbSNP:199422254
1436+c, tdbSNP:121912289
1503+dbSNP:
1503+a, gdbSNP:138065506
1515+a, gdbSNP:189466923
1527+c, tdbSNP:143207180
1578+dbSNP:
1578+c, tdbSNP:143209714
1641+a, gdbSNP:3752356
1666+a, gdbSNP:150319104
1671+c, tdbSNP:1127051
1689+dbSNP:
1689+c, tdbSNP:147447481
1734+g, tdbSNP:186518477
1748+a, cdbSNP:138410549
1761+a, c, gdbSNP:1800533
1773+c, tdbSNP:113386014
1784+a, cdbSNP:11795799
1795+c, tdbSNP:143263287
1852+a, gdbSNP:7878787
2068+c, tdbSNP:141487608
2135+g, tdbSNP:191271657
Gene SymbolDKC1
Gene SynonymCBF5; DKC; DKCX; NAP57; NOLA4; XAP101
ChromosomeX
Locus MapXq28
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001142463 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 2, mRNA. On-demand $699.00 18
NM_001363 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. On-demand $699.00 18
Title The human base excision repair enzyme SMUG1 directly interacts with DKC1 and contributes to RNA quality control .
Author Jobert,L., Skjeldam,H.K., Dalhus,B., Galashevskaya,A., Vagbo,C.B., Bjoras,M. and Nilsen,H.
Journal Mol. Cell 49 (2), 339-345 (2013)
Title High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita .
Author Carrillo,J., Martinez,P., Solera,J., Moratilla,C., Gonzalez,A., Manguan-Garcia,C., Aymerich,M., Canal,L., Del Campo,M., Dapena,J.L., Escoda,L., Garcia-Sagredo,J.M., Martin-Sala,S., Rives,S., Sevilla,J., Sastre,L. and Perona,R.
Journal Blood Cells Mol. Dis. 49 (3-4), 140-146 (2012)
Title The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita .
Author Zeng,X.L., Thumati,N.R., Fleisig,H.B., Hukezalie,K.R., Savage,S.A., Giri,N., Alter,B.P. and Wong,J.M.
Journal Hum. Mol. Genet. 21 (4), 721-729 (2012)
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 rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells .
Author Jack,K., Bellodi,C., Landry,D.M., Niederer,R.O., Meskauskas,A., Musalgaonkar,S., Kopmar,N., Krasnykh,O., Dean,A.M., Thompson,S.R., Ruggero,D. and Dinman,J.D.
Journal Mol. Cell 44 (4), 660-666 (2011)
Title Dyskeratosis congenita: new clinical and molecular insights into ribosome function .
Author McGrath,J.A.
Journal Lancet 353 (9160), 1204-1205 (1999)
Title Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene .
Author Hassock,S., Vetrie,D. and Giannelli,F.
Journal Genomics 55 (1), 21-27 (1999)
Title X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions .
Author Heiss,N.S., Knight,S.W., Vulliamy,T.J., Klauck,S.M., Wiemann,S., Mason,P.J., 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,J.J. and Fryns,J.P.
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,C.M., van den Berg,H., Barth,P.G. and Hennekam,R.C.
Journal Eur. J. Pediatr. 154 (4), 304-308 (1995)


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