Dyskerin: Difference between revisions

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{{Infobox_gene}}
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'''H/ACA ribonucleoprotein complex subunit 4''' is a [[protein]] that in humans is encoded by the ''DKC1'' [[gene]].<ref name="pmid9590285">{{cite journal | vauthors = Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I | title = X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions | journal = Nat Genet | volume = 19 | issue = 1 | pages = 32–8 |date=May 1998 | pmid = 9590285 | pmc =  | doi = 10.1038/ng0598-32 }}</ref><ref name="pmid9888995">{{cite journal | vauthors = Hassock S, Vetrie D, Giannelli F | title = Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene | journal = Genomics | volume = 55 | issue = 1 | pages = 21–7 |date=Mar 1999 | pmid = 9888995 | pmc =  | doi = 10.1006/geno.1998.5600 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1736| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Dyskeratosis congenita 1, dyskerin
| HGNCid = 2890
| Symbol = DKC1
| AltSymbols =; DKC; NAP57; NOLA4; XAP101; dyskerin
| OMIM = 300126
| ECnumber =
| Homologene = 1045
| MGIid =
| GeneAtlas_image1 = PBB_GE_DKC1_201479_at_tn.png
| GeneAtlas_image2 = PBB_GE_DKC1_201478_s_at_tn.png
  | GeneAtlas_image3 = PBB_GE_DKC1_216212_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003720 |text = telomerase activity}} {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0016439 |text = tRNA-pseudouridine synthase activity}} {{GNF_GO|id=GO:0016853 |text = isomerase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005654 |text = nucleoplasm}} {{GNF_GO|id=GO:0005697 |text = telomerase holoenzyme complex}} {{GNF_GO|id=GO:0005730 |text = nucleolus}}
| Process = {{GNF_GO|id=GO:0000074 |text = regulation of progression through cell cycle}} {{GNF_GO|id=GO:0006364 |text = rRNA processing}} {{GNF_GO|id=GO:0007004 |text = telomere maintenance via telomerase}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1736
    | Hs_Ensembl = ENSG00000130826
    | Hs_RefseqProtein = NP_001354
    | Hs_RefseqmRNA = NM_001363
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 153644229
    | Hs_GenLoc_end = 153659158
    | Hs_Uniprot = O60832
    | Mm_EntrezGene =
    | Mm_Ensembl = 
    | Mm_RefseqmRNA =
    | Mm_RefseqProtein =
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr =   
    | Mm_GenLoc_start =
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Dyskeratosis congenita 1, dyskerin''', also known as '''DKC1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1736| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = This gene is a member of the [[snoRNA|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|(Cajal) bodies]] in the nucleus. Both 18S [[rRNA]] production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted.  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 (MPP1) 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]].<ref name="entrez">{{cite web | title = Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1736| accessdate = }}</ref>
| summary_text = This gene is a member of the [[snoRNA|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|(Cajal) bodies]] in the nucleus. Both 18S [[rRNA]] production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted.  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 (MPP1) 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]].<ref name="entrez"/>
}}
}}
== Clinical significance ==
Mutations in [[DKC1]] are associated to {{SWL|type=mutations_associated_to|target=Hoyeraal-Hreidarsson syndrome|label=Hoyeraal-Hreidarsson syndrome}}.<ref>{{Cite journal
| pmid = 24914498
| year = 2014
| author1 = Lim
| first1 = B. C.
| title = Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing
| journal = Gene
| last2 = Yoo
| first2 = S. K.
| last3 = Lee
| first3 = S
| last4 = Shin
| first4 = J. Y.
| last5 = Hwang
| first5 = H
| last6 = Chae
| first6 = J. H.
| last7 = Hwang
| first7 = Y. S.
| last8 = Seo
| first8 = J. S.
| last9 = Kim
| first9 = J. I.
| last10 = Kim
| first10 = K. J.
| doi = 10.1016/j.gene.2014.06.011
| volume=546
| issue=2
| pages=425–9
}}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Marrone A, Dokal I |title=Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. |journal=Expert reviews in molecular medicine |volume=6 |issue= 26 |pages= 1-23 |year= 2007 |pmid= 15613268 |doi= 10.1017/S1462399404008671 }}
*{{cite journal  | vauthors=Marrone A, Dokal I |title=Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. |journal=Expert Reviews in Molecular Medicine |volume=6 |issue= 26 |pages= 1–23 |year= 2004 |pmid= 15613268 |doi= 10.1017/S1462399404008671 }}
*{{cite journal  | author=Yamaguchi H |title=Mutations of telomerase complex genes linked to bone marrow failures. |journal=Journal of Nippon Medical School = Nihon Ika Daigaku zasshi |volume=74 |issue= 3 |pages= 202-9 |year= 2007 |pmid= 17625368 |doi=  }}
*{{cite journal  | author=Yamaguchi H |title=Mutations of telomerase complex genes linked to bone marrow failures. |journal=Journal of Nippon Medical School = Nihon Ika Daigaku zasshi |volume=74 |issue= 3 |pages= 202–9 |year= 2007 |pmid= 17625368 |doi=  10.1272/jnms.74.202}}
*{{cite journal  | author=Aalfs CM, van den Berg H, Barth PG, Hennekam RC |title=The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. |journal=Eur. J. Pediatr. |volume=154 |issue= 4 |pages= 304-8 |year= 1995 |pmid= 7607282 |doi=  }}
*{{cite journal  | vauthors=Aalfs CM, van den Berg H, Barth PG, Hennekam RC |title=The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. |journal=Eur. J. Pediatr. |volume=154 |issue= 4 |pages= 304–8 |year= 1995 |pmid= 7607282 |doi=10.1007/BF01957367 }}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
*{{cite journal  | author=Devriendt K, Matthijs G, Legius E, ''et al.'' |title=Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. |journal=Am. J. Hum. Genet. |volume=60 |issue= 3 |pages= 581-7 |year= 1997 |pmid= 9042917 |doi=  }}
*{{cite journal  | vauthors=Devriendt K, Matthijs G, Legius E |title=Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita |journal=Am. J. Hum. Genet. |volume=60 |issue= 3 |pages= 581–7 |year= 1997 |pmid= 9042917 |doi=  | pmc=1712491  |display-authors=etal}}
*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
*{{cite journal  | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  |display-authors=etal}}
*{{cite journal  | author=Heiss NS, Knight SW, Vulliamy TJ, ''et al.'' |title=X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. |journal=Nat. Genet. |volume=19 |issue= 1 |pages= 32-8 |year= 1998 |pmid= 9590285 |doi= 10.1038/ng0598-32 }}
*{{cite journal  | author=McGrath JA |title=Dyskeratosis congenita: new clinical and molecular insights into ribosome function |journal=Lancet |volume=353 |issue= 9160 |pages= 1204–5 |year= 1999 |pmid= 10217077 |doi=10.1016/S0140-6736(99)00011-2 }}
*{{cite journal  | author=Hassock S, Vetrie D, Giannelli F |title=Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. |journal=Genomics |volume=55 |issue= 1 |pages= 21-7 |year= 1999 |pmid= 9888995 |doi= 10.1006/geno.1998.5600 }}
*{{cite journal  | vauthors=Knight SW, Heiss NS, Vulliamy TJ |title=X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 50–8 |year= 1999 |pmid= 10364516 |doi=10.1086/302446 | pmc=1378074  |display-authors=etal}}
*{{cite journal  | author=McGrath JA |title=Dyskeratosis congenita: new clinical and molecular insights into ribosome function. |journal=Lancet |volume=353 |issue= 9160 |pages= 1204-5 |year= 1999 |pmid= 10217077 |doi=  }}
*{{cite journal  | vauthors=Vulliamy TJ, Knight SW, Heiss NS |title=Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier |journal=Blood |volume=94 |issue= 4 |pages= 1254–60 |year= 1999 |pmid= 10438713 |doi=  |display-authors=etal}}
*{{cite journal  | author=Knight SW, Heiss NS, Vulliamy TJ, ''et al.'' |title=X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 50-8 |year= 1999 |pmid= 10364516 |doi=  }}
*{{cite journal  | vauthors=Heiss NS, Girod A, Salowsky R |title=Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita |journal=Hum. Mol. Genet. |volume=8 |issue= 13 |pages= 2515–24 |year= 2000 |pmid= 10556300 |doi=10.1093/hmg/8.13.2515 |display-authors=etal}}
*{{cite journal  | author=Vulliamy TJ, Knight SW, Heiss NS, ''et al.'' |title=Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. |journal=Blood |volume=94 |issue= 4 |pages= 1254-60 |year= 1999 |pmid= 10438713 |doi=  }}
*{{cite journal  | vauthors=Knight SW, Heiss NS, Vulliamy TJ |title=Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 |journal=Br. J. Haematol. |volume=107 |issue= 2 |pages= 335–9 |year= 2000 |pmid= 10583221 |doi=10.1046/j.1365-2141.1999.01690.x |display-authors=etal}}
*{{cite journal  | author=Heiss NS, Girod A, Salowsky R, ''et al.'' |title=Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. |journal=Hum. Mol. Genet. |volume=8 |issue= 13 |pages= 2515-24 |year= 2000 |pmid= 10556300 |doi=  }}
*{{cite journal  | vauthors=Mitchell JR, Wood E, Collins K |title=A telomerase component is defective in the human disease dyskeratosis congenita |journal=Nature |volume=402 |issue= 6761 |pages= 551–5 |year= 1999 |pmid= 10591218 |doi= 10.1038/990141 }}
*{{cite journal  | author=Knight SW, Heiss NS, Vulliamy TJ, ''et al.'' |title=Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. |journal=Br. J. Haematol. |volume=107 |issue= 2 |pages= 335-9 |year= 2000 |pmid= 10583221 |doi=  }}
*{{cite journal  | vauthors=Yaghmai R, Kimyai-Asadi A, Rostamiani K |title=Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome |journal=J. Pediatr. |volume=136 |issue= 3 |pages= 390–3 |year= 2000 |pmid= 10700698 |doi= 10.1067/mpd.2000.104295 |display-authors=etal}}
*{{cite journal  | author=Mitchell JR, Wood E, Collins K |title=A telomerase component is defective in the human disease dyskeratosis congenita. |journal=Nature |volume=402 |issue= 6761 |pages= 551-5 |year= 1999 |pmid= 10591218 |doi= 10.1038/990141 }}
*{{cite journal  | vauthors=Heiss NS, Bächner D, Salowsky R |title=Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1 |journal=Genomics |volume=67 |issue= 2 |pages= 153–63 |year= 2000 |pmid= 10903840 |doi= 10.1006/geno.2000.6227 |display-authors=etal}}
*{{cite journal  | author=Yaghmai R, Kimyai-Asadi A, Rostamiani K, ''et al.'' |title=Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. |journal=J. Pediatr. |volume=136 |issue= 3 |pages= 390-3 |year= 2000 |pmid= 10700698 |doi= 10.1067/mpd.2000.104295 }}
*{{cite journal  | vauthors=Pogacić V, Dragon F, Filipowicz W |title=Human H/ACA Small Nucleolar RNPs and Telomerase Share Evolutionarily Conserved Proteins NHP2 and NOP10 |journal=Mol. Cell. Biol. |volume=20 |issue= 23 |pages= 9028–40 |year= 2000 |pmid= 11074001 |doi=10.1128/MCB.20.23.9028-9040.2000  | pmc=86556 }}
*{{cite journal  | author=Heiss NS, Bächner D, Salowsky R, ''et al.'' |title=Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. |journal=Genomics |volume=67 |issue= 2 |pages= 153-63 |year= 2000 |pmid= 10903840 |doi= 10.1006/geno.2000.6227 }}
*{{cite journal  | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948 }}
*{{cite journal  | author=Pogacić V, Dragon F, Filipowicz W |title=Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. |journal=Mol. Cell. Biol. |volume=20 |issue= 23 |pages= 9028-40 |year= 2000 |pmid= 11074001 |doi=  }}
*{{cite journal  | vauthors=Simpson JC, Wellenreuther R, Poustka A |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 |display-authors=etal}}
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal  | vauthors=Knight SW, Vulliamy TJ, Morgan B |title=Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis |journal=Hum. Genet. |volume=108 |issue= 4 |pages= 299–303 |year= 2001 |pmid= 11379875 |doi=10.1007/s004390100494 |display-authors=etal}}
*{{cite journal  | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287-92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 }}
*{{cite journal  | author=Knight SW, Vulliamy TJ, Morgan B, ''et al.'' |title=Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. |journal=Hum. Genet. |volume=108 |issue= 4 |pages= 299-303 |year= 2001 |pmid= 11379875 |doi=  }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dkc  GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita]
 
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{{DNA replication}}
 
[[Category:Telomere-related genes]]
[[Category:Telomere-related proteins]]
 
 
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Revision as of 00:10, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (protein)

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Wikidata
View/Edit Human

H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the DKC1 gene.[1][2][3]

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. 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 (MPP1) 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.[3]

Clinical significance

Mutations in DKC1 are associated to Hoyeraal-Hreidarsson syndrome .[4]

References

  1. ↑ Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I (May 1998). "X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions". Nat Genet. 19 (1): 32–8. doi:10.1038/ng0598-32. PMID 9590285.
  2. ↑ Hassock S, Vetrie D, Giannelli F (Mar 1999). "Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene". Genomics. 55 (1): 21–7. doi:10.1006/geno.1998.5600. PMID 9888995.
  3. ↑ 3.0 3.1 "Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin".
  4. ↑ Lim, B. C.; Yoo, S. K.; Lee, S; Shin, J. Y.; Hwang, H; Chae, J. H.; Hwang, Y. S.; Seo, J. S.; Kim, J. I.; Kim, K. J. (2014). "Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing". Gene. 546 (2): 425–9. doi:10.1016/j.gene.2014.06.011. PMID 24914498.

Further reading

External links



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