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Identification
HMDB Protein ID HMDBP01675
Secondary Accession Numbers
  • 7012
Name H/ACA ribonucleoprotein complex subunit 4
Synonyms
  1. CBF5 homolog
  2. Dyskerin
  3. Nopp140-associated protein of 57 kDa
  4. Nucleolar protein NAP57
  5. Nucleolar protein family A member 4
  6. snoRNP protein DKC1
Gene Name DKC1
Protein Type Enzyme
Biological Properties
General Function Involved in RNA processing
Specific Function Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme
Pathways Not Available
Reactions Not Available
GO Classification
Function
binding
catalytic activity
nucleic acid binding
isomerase activity
pseudouridine synthase activity
intramolecular transferase activity
rna binding
Process
rna metabolic process
metabolic process
macromolecule metabolic process
cellular macromolecule metabolic process
rna processing
rna modification
pseudouridine synthesis
Cellular Location
  1. Nucleus
  2. Nucleus
  3. nucleolus
  4. Cajal body
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs DKC1
Gene Sequence
>1545 bp
ATGGCGGATGCGGAAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAG
TCATTGCCAGAAGAAGATGTAGCCGAAATACAACACGCTGAAGAATTTCTTATCAAACCT
GAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGAATTTTGAT
AAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAG
AGAGAGATTGGGGACTATATCAGGACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCC
TCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCAC
AGTGGTACTCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACT
CGCTTGGTGAAGTCACAACAGAGTGCAGGCAAAGAGTATGTGGGGATTGTCCGGCTGCAC
AATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGCCCTAGAAACTCTGACAGGTGCCTTA
TTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTAC
GAGAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGAATCTTTTGGGTGAGTTGT
GAGGCTGGCACCTACATTCGGACATTATGTGTGCACCTTGGTTTGTTATTGGGAGTTGGT
GGTCAGATGCAGGAGCTTCGGAGGGTTCGTTCTGGAGTCATGAGTGAAAAGGACCACATG
GTGACAATGCATGATGTGCTTGATGCTCAGTGGCTGTATGATAACCACAAGGATGAGAGT
TACCTGCGGCGAGTTGTTTACCCTTTGGAAAAGCTGTTGACATCTCATAAACGGCTGGTT
ATGAAAGACAGTGCAGTAAATGCCATCTGCTATGGGGCCAAGATTATGCTTCCAGGTGTT
CTTCGATATGAGGACGGCATTGAGGTCAATCAGGAGATTGTGGTTATCACCACCAAAGGA
GAAGCAATCTGCATGGCTATTGCATTAATGACCACAGCGGTCATCTCTACCTGCGACCAT
GGTATAGTAGCCAAGATCAAGAGAGTGATCATGGAGAGAGACACTTACCCTCGGAAGTGG
GGTTTAGGTCCAAAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAG
CATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGT
GAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAA
GCAGCAAAAACTGCGAAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCA
GCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAA
GCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGACAGTGATACCACCAAGAAGAAG
AAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAG
Protein Properties
Number of Residues 514
Molecular Weight 57673.7
Theoretical pI 10.02
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>H/ACA ribonucleoprotein complex subunit 4
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD
KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH
SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL
FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH
GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK
AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
GenBank ID Protein 3873221
UniProtKB/Swiss-Prot ID O60832
UniProtKB/Swiss-Prot Entry Name DKC1_HUMAN
PDB IDs Not Available
GenBank Gene ID AF067008
GeneCard ID DKC1
GenAtlas ID DKC1
HGNC ID HGNC:2890
References
General References
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  17. Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco A, Hochstrasser D, Diaz JJ: Functional proteomic analysis of human nucleolus. Mol Biol Cell. 2002 Nov;13(11):4100-9. [PubMed:12429849 ]
  18. Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R: Phosphoproteome analysis of the human mitotic spindle. Proc Natl Acad Sci U S A. 2006 Apr 4;103(14):5391-6. Epub 2006 Mar 24. [PubMed:16565220 ]
  19. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I: X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet. 1998 May;19(1):32-8. [PubMed:9590285 ]
  20. Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A: X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet. 1999 Jul;65(1):50-8. [PubMed:10364516 ]
  21. Hassock S, Vetrie D, Giannelli F: Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. Genomics. 1999 Jan 1;55(1):21-7. [PubMed:9888995 ]
  22. Heiss NS, Girod A, Salowsky R, Wiemann S, Pepperkok R, Poustka A: Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum Mol Genet. 1999 Dec;8(13):2515-24. [PubMed:10556300 ]
  23. Mitchell JR, Wood E, Collins K: A telomerase component is defective in the human disease dyskeratosis congenita. Nature. 1999 Dec 2;402(6761):551-5. [PubMed:10591218 ]
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  25. Pogacic V, Dragon F, Filipowicz W: Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. Mol Cell Biol. 2000 Dec;20(23):9028-40. [PubMed:11074001 ]
  26. Wang C, Meier UT: Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. EMBO J. 2004 Apr 21;23(8):1857-67. Epub 2004 Mar 25. [PubMed:15044956 ]
  27. Darzacq X, Kittur N, Roy S, Shav-Tal Y, Singer RH, Meier UT: Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. J Cell Biol. 2006 Apr 24;173(2):207-18. Epub 2006 Apr 17. [PubMed:16618814 ]
  28. Hoareau-Aveilla C, Bonoli M, Caizergues-Ferrer M, Henry Y: hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. RNA. 2006 May;12(5):832-40. Epub 2006 Apr 6. [PubMed:16601202 ]
  29. Venteicher AS, Abreu EB, Meng Z, McCann KE, Terns RM, Veenstra TD, Terns MP, Artandi SE: A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. Science. 2009 Jan 30;323(5914):644-8. doi: 10.1126/science.1165357. [PubMed:19179534 ]
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  31. Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I: A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol. 2002 Dec;119(3):765-8. [PubMed:12437656 ]