Sequence in raw or FASTA format:
Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.
| RefSeq Version | NM_001363.3, 215598984 |
| Length | 2594 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| 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]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). |
| RefSeq | NP_001354.1 |
| CDS | 211..1755 | Exon (1) | 1..226 | Exon (2) | 1..226 | Exon (3) | 227..294 | Exon (4) | 295..381 | Exon (5) | 382..473 | Exon (6) | 474..658 | Exon (7) | 659..723 | Exon (8) | 724..850 | Exon (9) | 851..981 | Exon (10) | 982..1125 | Exon (11) | 1126..1246 | Exon (12) | 1247..1365 | Exon (13) | 1366..1469 | Exon (14) | 1470..1548 | Exon (15) | 1549..1686 | Exon (16) | 1687..2577 |
| Translation | MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD
KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH
SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL
FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH
GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK
AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
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| Position | Chain | Variation | Link |
| 215 | + | c, t | dbSNP:121912303 |
| 301 | + | a, c | dbSNP:137854491 |
| 316 | + | g, t | dbSNP:121912293 |
| 319..321 | + | , ctt | dbSNP:137854489 |
| 319..320 | + | ct, ta | dbSNP:137854490 |
| 323 | + | c, t | dbSNP:28936072 |
| 325 | + | a, g | dbSNP:121912296 |
| 329 | + | c, g | dbSNP:121912292 |
| 331 | + | a, g | dbSNP:121912302 |
| 356 | + | c, t | dbSNP:121912304 |
| 376..377 | + | ct, tc | dbSNP:121912287 |
| 404 | + | c, g | dbSNP:121912301 |
| 406 | + | a, g | dbSNP:121912297 |
| 424..425 | + | ct, ta | dbSNP:121912294 |
| 424 | + | c, t | dbSNP:121912306 |
| 571 | + | a, g | dbSNP:121912305 |
| 1159 | + | c, t | dbSNP:121912290 |
| 1171 | + | a, c, g | dbSNP:2728726 |
| 1175 | + | a, g | dbSNP:121912291 |
| 1259 | + | c, t | dbSNP:121912300 |
| 1260 | + | a, g | dbSNP:121912298 |
| 1268 | + | c, t | dbSNP:121912288 |
| 1279 | + | a, g | dbSNP:137854492 |
| 1414 | + | a, g | dbSNP:121912299 |
| 1415 | + | a, g | dbSNP:121912295 |
| 1436 | + | c, t | dbSNP:121912289 |
| Gene Symbol | DKC1 |
| Gene Synonym | CBF5; DKC; FLJ97620; NAP57; NOLA4; XAP101 |
| Chromosome | X |
| Locus Map | Xq28 |
| All Transcripts | NM_001363 , NM_001142463 |
| Title | Novel dyskerin-mediated mechanism of p53 inactivation through defective mRNA translation . |
| Author | Montanaro,L., Calienni,M., Bertoni,S., Rocchi,L., Sansone,P., Storci,G., Santini,D., Ceccarelli,C., Taffurelli,M., Carnicelli,D., Brigotti,M., Bonafe,M., Trere,D. and Derenzini,M. |
| Journal | Cancer Res. 70 (11), 4767-4777 (2010) |
| Title | Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs . |
| Author | Trahan,C., Martel,C. and Dragon,F. |
| Journal | Hum. Mol. Genet. 19 (5), 825-836 (2010) |
| Title | Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita . |
| Author | Rostamiani,K., Klauck,S.M., Heiss,N., Poustka,A., Khaleghi,M., Rosales,R. and Metzenberg,A.B. |
| Journal | Blood Cells Mol. Dis. 44 (2), 88 (2010) |
| Title | Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers . |
| Author | Smith,I.M., Mithani,S.K., Mydlarz,W.K., Chang,S.S. and Califano,J.A. |
| Journal | ORL J. Otorhinolaryngol. Relat. Spec. 72 (1), 44-50 (2010) |
| Title | Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations . |
| Author | Ashbridge,B., Orte,A., Yeoman,J.A., Kirwan,M., Vulliamy,T., Dokal,I., Klenerman,D. and Balasubramanian,S. |
| Journal | Biochemistry 48 (46), 10858-10865 (2009) |
| 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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