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Gene: DKC1 (dyskerin pseudouridine synthase 1) Homo sapiens
Symbol: DKC1
Name: dyskerin pseudouridine synthase 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CBF5; CBF5 homolog; cbf5p homolog; DKC; DKCX; dyskeratosis congenita 1, dyskerin; FLJ97620; H/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1; NAP57; NOLA4; nopp140-associated protein of 57 kDa; nucleolar protein family A member 4; nucleolar protein NAP57; snoRNP protein DKC1; XAP101
Mus musculus (house mouse) : Dkc1 (dyskeratosis congenita 1, dyskerin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dkc1 (dyskerin pseudouridine synthase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dkc1 (dyskerin pseudouridine synthase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : DKC1 (dyskerin pseudouridine synthase 1)
Canis lupus familiaris (dog) : DKC1 (dyskerin pseudouridine synthase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dkc1 (dyskerin pseudouridine synthase 1)
Sus scrofa (pig) : DKC1 (dyskerin pseudouridine synthase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X154,762,742 - 154,777,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,991,031 - 154,005,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,644,344 - 153,659,154 (+)NCBINCBI36hg18NCBI36
Build 34X153,554,853 - 153,569,664NCBI
CeleraX154,149,596 - 154,164,527 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,534,593 - 142,549,324 (+)NCBIHuRef
CHM1_1X153,902,709 - 153,917,646 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on DKC1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1349510
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.