DKC1

Also known as CBF5, DKC, DKCX, NAP57, NOLA4, XAP101, Dyskerin, dyskerin pseudouridine synthase 1

H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the DKC1 gene. The encoded protein, known as dyskerin, is a highly conserved nucleolar enzyme that plays key roles in rRNA modification, telomerase function, and ribosome biogenesis.

Gene data

DKC1

Name: dyskerin pseudouridine synthase 1
Type: protein-coding
Chromosome: X
Aliases: CBF5, CHINE1, DKC, DKCX, NAP57, NOLA4, XAP101

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].

via MyGene.info

Gene · Ensembl

dyskerin pseudouridine synthase 1

Symbol: DKC1
Biotype: Protein coding
Organism: Homo sapiens
Location: Chr X:154,762,741-154,777,697
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 1045
exact match: identifiers.org/ncbigene/1736
genomic start: 154762742
genomic end: 154005964
cytogenetic location: Xq28

Sources (4)

via Wikidata · CC0

~3 min read

Article

6 sections

Contents

Structure
Function
Clinical significance
References
Further reading
External links

== Structure == Dyskerin is an L-shaped protein consisting of approximately 514 amino acid residues, with a molecular weight of about 58 kilo-daltons. It belongs to the TruB family of pseudouridine synthase enzymes and forms the catalytic core of the H/ACA box snoRNP (small nucleolar ribonucleoprotein) complex. The DKC1 gene is located on the X chromosome, in a tail-to-tail orientation with the gene encoding palmitoylated erythrocyte membrane protein 1 (MPP1), and is transcribed in a telomere-to-centromere direction.