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H/ACA ribonucleoprotein complex subunit 4; dyskerin; nucleolar protein family A member 4; snoRNP protein DKC1; Nopp140-associated protein of 57 kDa; nucleolar protein NAP57; CBF5 homolog (DKC1, NOLA4)
Function:
- catalytic subunit of H/ACA small nucleolar ribonucleoprotein complex (H/ACA snoRNP complex)
- required for ribosome biogenesis & telomere maintenance
- also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme
Structure:
- human homolog of rat nucleolus-associated gene encoding NAP57 & yeast centromere/microtubule binding genes (CBF5)
- belongs to the pseudouridine synthase truB family
- contains 1 PUA domain
Compartment:
- nucleus, nucleolus, Cajal body
Expression:
- ubiquitously expressed
Pathology:
- defects in DKC1 are a cause of X-linked dyskeratosis congenita
- defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome
Related
DKC1 gene
X-linked dyskeratosis congenita
General
enzyme catalytic subunit
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 514 aa
MW = 58 kD
COMPARTMENT: cell nucleus
MOTIF: Nucleolar localization {2-21}
acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
lysine-rich region {11-17}
MOTIF: lysine residue (SEVERAL)
Ser phosphorylation site {S21}
aspartate residue {D125}
PUA {296-371}
Ser phosphorylation site {S422}
Nuclear and nucleolar localization {446-514}
MOTIF: Ser phosphorylation site {S451}
Ser phosphorylation site {S453}
Ser phosphorylation site {S455}
Thr phosphorylation site {T458}
Ser phosphorylation site {S485}
Ser phosphorylation site {S494}
Thr phosphorylation site {T496}
Thr phosphorylation site {T497}
Ser phosphorylation site {S513}
Database Correlations
OMIM correlations
MORBIDMAP 300126
UniProt O60832
PFAM correlations
Entrez Gene 1736
References
- Heiss NS et al
X-linked dyskeratosis congenita is caused by mutations in a
highly conserved gene with putative nucleolar functions.
Nature Genetics 19:32-8, 1998
PMID: 9590285
- UniProt :accession O60832
- DKC1base; Note: DKC1 mutation db
http://bioinf.uta.fi/DKC1base/
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/DKC1ID157.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/DKC1
Component-of
H/ACA small nucleolar ribonucleoprotein complex (H/ACA snoRNP complex)