This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about H/ACA ribonucleoprotein complex subunit DKC1.
Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674).
Human | |
---|---|
Gene Name: | DKC1 |
Uniprot: | O60832 |
Entrez: | 1736 |
Belongs to: |
---|
pseudouridine synthase TruB family |
CBF5 homolog; CBF5; cbf5p homolog; DKC; dyskeratosis congenita 1, dyskerin; Dyskerin; EC 5.4.99; EC 5.4.99.-; FLJ97620; H/ACA ribonucleoprotein complex subunit 4; NAP57; NOLA4dyskerin; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP101
Mass (kDA):
57.674 kDA
Human | |
---|---|
Location: | Xq28 |
Sequence: | X; NC_000023.11 (154762742..154777689) |
Ubiquitously expressed.
[Isoform 1]: Nucleus, nucleolus. Nucleus, Cajal body. Also localized to Cajal bodies (coiled bodies).; [Isoform 3]: Cytoplasm.
PMID: 9590285 by Heiss N.S., et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
PMID: 10364516 by Knight S.W., et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.