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 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:153991031-154005964 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human DKC1

Alleles and phenotypes

All alleles(13) : Targeted(9) Gene trapped(4)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	pseudouridine synthesis, ribosome biogenesis, ...
Component	nucleolus, nucleus, ...
Function	isomerase activity, pseudouridine 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 Type	Results
RNA in situ	36
Northern blot	12

cDNA source data(115)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1575853, TC1655889
DoTS	DT.55143898, DT.55277244
NIA Mouse Gene Index	U019964
EC	5.4.99.-
Consensus CDS Project	CCDS41029.1
International Mouse Knockout Project Status	Dkc1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000020788	VEGA Gene Model | MGI Sequence Detail	13924	C57BL/6J
transcript	OTTMUST00000049145	VEGA | MGI Sequence Detail	2804	Not Applicable
polypeptide	OTTMUSP00000022726	VEGA | MGI Sequence Detail	509	Not Applicable

All sequences(68) RefSeq(2) UniProt(9)

Polymorphisms

SNPs(16 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(41)

Other accession IDs

MGI:3040698