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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 zebrafish

Protein SuperFamily: tRNA pseudouridine synthase B
Gene Tree: Dkc1

Human
homologs
Human Homolog DKC1, dyskeratosis congenita 1, dyskerin
NCBI Gene ID 1736
neXtProt AC  NX_O60832
Human Synonyms  CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
Human Chr (Location)  Xq28; chrX:154762742-154777689 (+)  GRCh38
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 Using Mouse Dkc1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Dkc1 interacts with 131 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process cell proliferation, DNA biosynthetic process, ...
Component Cajal body, nucleolus, ...
Function baruol synthase activity, beta-amyrin synthase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (48)    Tissues (43)   
Theiler Stages: 10, 15, 17, 18, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 36
Northern blot 12
cDNA source data(115)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(117) cDNA(117)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000020788 (Evidence)
Ensembl Gene ModelENSMUSG00000031403 (Evidence)
Entrez Gene245474 (Evidence)
UniGene291062
DFCITC1575853, TC1655889
DoTSDT.55143898, DT.55277244
NIA Mouse Gene IndexU019964
EC5.4.99.-
Consensus CDS ProjectCCDS41029.1
International Mouse Knockout Project StatusDkc1
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(44)
Disease annotation references (1)
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
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory