Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA
Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

Donate (in Euros)

Donate (in US Dollars)

DKC1 (dyskeratosis congenita 1, dyskerin)


HGNC (Hugo) DKC1
LocusID (NCBI) 1736
Location Xq28
Location_base_pair Starts at 153991017 and ends at 154005964 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order distal, DKC1 is between DXS1684 and DXS1108.
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Note X-linked dyskeratosis congenita (genes for dominant and recessive autosomal forms have not been identified).


Description Gene composed of 15 exons (exons 1 and 15 non coding) / 15kb length cDNA 2465 bp (open reading frame between nt 93 and 1637)


Description Dyskerin, 514 amino acids, 57 kDa.
Expression widespread tissue expression.
Function Multifunctional nucleolar protein which associates with H+ACA (hairpin-linge hairpin-tail) class of small nucleolar RNA as its catalytic sub-unit; implicated in centromere function; associated also with the telomerase RNA component; function in ribosome biosynthesis
Homology highly conserved in eukaryotes: Nap57 (nucleolar associated protein) in the rat, Nop60B in drosophila, Cbf5p (centromere/microtubule binding protein) in yeast. Regional homologies with bacterial Trub proteins and Saccharomyces cerevisiae PUS4 protein.

Implicated in

Disease Dyskeratosis congenita, X-linked recessive form
Hybrid/Mutated Gene missense mutation by single-nucleotide substitution at position 1058 in exon 11 (A353V) detected in several different families. Sporadic other missense mutations were detected in exon 3, 4, 10, 12 and in intron 2. Rare deletions and no null mutations are observed.
Abnormal Protein non functional protein. It is not presently known how the different mutations affect the protein activity and are responsible of the various phenotypes
Oncogenesis myelodysplasia and leukemia following bone marrow failure and pancytopenia. Spinocellular carcinoma, other carcinomas of various localization.

External links

HGNC (Hugo)DKC1   2890
Entrez_Gene (NCBI)DKC1  1736  dyskeratosis congenita 1, dyskerin
GeneCards (Weizmann)DKC1
Ensembl hg19 (Hinxton)ENSG00000130826 [Gene_View]  chrX:153991017-154005964 [Contig_View]  DKC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130826 [Gene_View]  chrX:153991017-154005964 [Contig_View]  DKC1 [Vega]
ICGC DataPortalENSG00000130826
AceView (NCBI)DKC1
Genatlas (Paris)DKC1
SOURCE (Princeton)DKC1
Genomic and cartography
GoldenPath hg19 (UCSC)DKC1  -     chrX:153991017-154005964 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DKC1  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblDKC1 - Xq28 [CytoView hg19]  DKC1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIDKC1 [Mapview hg19]  DKC1 [Mapview hg38]
OMIM300126   305000   
Gene and transcription
Genbank (Entrez)AF067008 AK225077 AK307672 AM392631 AM392823
RefSeq transcript (Entrez)NM_001142463 NM_001288747 NM_001363
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_009780 NT_011681 NW_001842420 NW_004929448
Consensus coding sequences : CCDS (NCBI)DKC1
Cluster EST : UnigeneHs.4747 [ NCBI ]
CGAP (NCI)Hs.4747
Alternative Splicing : Fast-db (Paris)GSHG0031929
Alternative Splicing GalleryENSG00000130826
Gene ExpressionDKC1 [ NCBI-GEO ]     DKC1 [ SEEK ]   DKC1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60832 (Uniprot)
NextProtO60832  [Medical]
With graphics : InterProO60832
Splice isoforms : SwissVarO60832 (Swissvar)
Catalytic activity : Enzyme5.4.99.- [ Enzyme-Expasy ]   5.4.99.-5.4.99.- [ IntEnz-EBI ]   5.4.99.- [ BRENDA ]   5.4.99.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)PUA (PS50890)   
Domains : Interpro (EBI)Dyskerin-like    PsdUridine_synth    PsdUridine_synth_cat_dom    PUA    PUA-like_domain    tRNA_PsdUridine_synth_B_fam    Uncharacterised_CHP00451   
Related proteins : CluSTrO60832
Domain families : Pfam (Sanger)DKCLD (PF08068)    PUA (PF01472)    TruB_N (PF01509)   
Domain families : Pfam (NCBI)pfam08068    pfam01472    pfam01509   
Domain families : Smart (EMBL)PUA (SM00359)  
DMDM Disease mutations1736
Blocks (Seattle)O60832
Human Protein AtlasENSG00000130826
Peptide AtlasO60832
IPIIPI00221394   IPI00915274   IPI00852712   IPI00852780   IPI00874145   IPI00893397   IPI00893630   
Protein Interaction databases
IntAct (EBI)O60832
Ontologies - Pathways
Ontology : AmiGOtelomere maintenance  pseudouridine synthesis  telomerase activity  RNA binding  protein binding  nucleus  nucleoplasm  telomerase holoenzyme complex  nucleolus  nucleolus  cytoplasm  rRNA processing  RNA processing  telomere maintenance via telomerase  cell proliferation  pseudouridine synthase activity  Cajal body  poly(A) RNA binding  
Ontology : EGO-EBItelomere maintenance  pseudouridine synthesis  telomerase activity  RNA binding  protein binding  nucleus  nucleoplasm  telomerase holoenzyme complex  nucleolus  nucleolus  cytoplasm  rRNA processing  RNA processing  telomere maintenance via telomerase  cell proliferation  pseudouridine synthase activity  Cajal body  poly(A) RNA binding  
Pathways : KEGGRibosome biogenesis in eukaryotes   
REACTOMEO60832 [protein]
REACTOME PathwaysREACT_115566 Cell Cycle [pathway]
Protein Interaction DatabaseDKC1
DoCM (Curated mutations)DKC1
Wikipedia pathwaysDKC1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDKC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DKC1
Exome Variant ServerDKC1
SNP (GeneSNP Utah)DKC1
Genetic variants : HAPMAPDKC1
Genomic Variants (DGV)DKC1 [DGVbeta]
ICGC Data PortalENSG00000130826 
Somatic Mutations in Cancer : COSMICDKC1 
CONAN: Copy Number AnalysisDKC1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)X:153991017-154005964
OrphanetDyskeratosis congenita
Mutations and Diseases : HGMDDKC1
OMIM300126    305000   
NextProtO60832 [Medical]
Disease Genetic AssociationDKC1
Huge Navigator DKC1 [HugePedia]  DKC1 [HugeCancerGEM]
snp3D : Map Gene to Disease1736
DGIdb (Drug Gene Interaction db)DKC1
General knowledge
Homologs : HomoloGeneDKC1
Homology/Alignments : Family Browser (UCSC)DKC1
Phylogenetic Trees/Animal Genes : TreeFamDKC1
Chemical/Protein Interactions : CTD1736
Chemical/Pharm GKB GenePA27344
Clinical trialDKC1
Cancer Resource (Charite)ENSG00000130826
Other databases
PubMed111 Pubmed reference(s) in Entrez


Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.
Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ
Blood. 1999 ; 94 (4) : 1254-1260.
PMID 10438713
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A
American journal of human genetics. 1999 ; 65 (1) : 50-58.
PMID 10364516
Dyskeratosis congenita in all its forms.
Dokal I
British journal of haematology. 2000 ; 110 (4) : 768-779.
PMID 11054058
Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.
Heiss NS, Bˆ§chner D, Salowsky R, Kolb A, Kioschis P, Poustka A
Genomics. 2000 ; 67 (2) : 153-163.
PMID 10903840
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I
Nature. 2001 ; 413 (6854) : 432-435.
PMID 11574891
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI


Written11-2002Claude Viguié


This paper should be referenced as such :
Viguié, C
DKC1 (dyskeratosis congenita 1, dyskerin)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):14-15.
Free journal version : [ pdf ]   [ DOI ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Feb 17 20:44:37 CET 2015

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us