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Gene: DKC1 (dyskerin pseudouridine synthase 1) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on DKC1
Alliance Gene
NCBI 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



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