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Dkc1
Gene Detail
Symbol

Name
ID
Dkc1
dyskeratosis congenita 1, dyskerin
MGI:1861727
Feature Type
protein coding gene
Genetic Map
Chromosome X
38.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
ChrX:75095854-75109777 bp, + strand
From VEGA annotation of GRCm38

  13924 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1045  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: DKC1
Protein SuperFamily: tRNA pseudouridine synthase B
Gene Tree: Dkc1

Human
homologs
DKC1, dyskeratosis congenita 1, dyskerin
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1736
neXtProt AC: NX_O60832

Human Synonyms: CBF5, DKC, DKCX, NAP57, NOLA4, XAP101

Human Chr (Location): Xq28; chrX:154762742-154777689 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human DKC1

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(4) Targeted(9)
 
Early generation male mice hemizygous for a hypomorphic allele exhibit bone marrow failure, dyskeratosis, extramedullary hematopoieis, splenomegaly, lung and kidney abnormalities, increased tumor incidence, and altered ribosome function; decreased telomere length is noted only in later generations.
 
Human Diseases Modeled in Mice Using Dkc1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Dkc1 interacts with 131 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (1 records)
Data Summary: Results (48)    Tissues (43)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 36
Northern blot 12
cDNA source data(115)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA DKC1 ; Xenbase dkc1    NEW 
Molecular
reagents
All nucleic(117) cDNA(117)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000020788 (Evidence)
Ensembl Gene Model ENSMUSG00000031403 (Evidence)
Entrez Gene 245474 (Evidence)
UniGene 291062
DFCI TC1655889, TC1575853
DoTS DT.55143898, DT.55277244
NIA Mouse Gene Index U019964
EC 5.4.99.-
Consensus CDS Project CCDS41029.1
International Mouse Phenotyping Consortium Status Dkc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020788 VEGA Gene Model | MGI Sequence Detail 13924 C57BL/6J ±  kb
transcript OTTMUST00000049145 VEGA | MGI Sequence Detail 2804 Not Applicable 
polypeptide OTTMUSP00000022726 VEGA | MGI Sequence Detail 509 Not Applicable 

For the selected sequences
All sequences(67) RefSeq(4) UniProt(8)
Polymorphisms
SNPs within 2kb(21 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR012960 Dyskerin-like
InterPro IPR002478 Pseudouridine synthase/archaeosine transglycosylase
InterPro IPR020103 Pseudouridine synthase, catalytic domain
InterPro IPR002501 Pseudouridine synthase II
InterPro IPR015947 PUA-like domain
InterPro IPR004802 tRNA pseudouridine synthase B family
InterPro IPR004521 Uncharacterised domain CHP00451
Protein Ontology PR:000006498 H/ACA ribonucleoprotein complex subunit 4
References
(Earliest) J:62560 Yang Y, et al., Conserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140. Mol Biol Cell. 2000 Feb;11(2):567-77
(Latest) J:198728 Gu BW, et al., Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin. FEBS Lett. 2013 Jul 11;587(14):2112-7
All references(45)
Disease annotation references (3)
Other
accession IDs
MGI:3040698

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory