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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DKC1 Gene

protein-coding   GIFtS: 67
GCID: GC0XP153984

Dyskeratosis Congenita 1, Dyskerin


(Previous symbol: DKC)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dyskeratosis Congenita 1, Dyskerin1 2     DKCX2
DKC1 2 5     NAP572
Nopp140-Associated Protein Of 57 KDa2 3     XAP1012
Nucleolar Protein Family A Member 42 3     Cbf5p Homolog2
Nucleolar Protein NAP572 3     H/ACA Ribonucleoprotein Complex Subunit 42
NOLA42 3     Dyskerin3
CBF5 Homolog2 3     EC 5.4.99.-3
SnoRNP Protein DKC12 3     EC 5.4.998
CBF52     

External Ids:    HGNC: 28901   Entrez Gene: 17362   Ensembl: ENSG000001308267   OMIM: 3001265   UniProtKB: O608323   

Export aliases for DKC1 gene to outside databases

Previous GC identifers: GC0XP148054 GC0XP150371 GC0XP151576 GC0XP152458 GC0XP153554


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DKC1 Gene:
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved
in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA.
The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA
proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both
18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These
four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is
related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a
tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a
telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms
have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting
in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most
cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of
dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Feb 2013)

GeneCards Summary for DKC1 Gene: 
DKC1 (dyskeratosis congenita 1, dyskerin) is a protein-coding gene. Diseases associated with DKC1 include dyskeratosis congenita, and dyskeratosis congenita-1, and among its related super-pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell Cycle, Mitotic. GO annotations related to this gene include telomerase activity and RNA binding.

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832
Function: Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of
H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This
involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal
N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation
of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the
telomerase reverse transcriptase (TERT) holoenzyme
Function: Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate
and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells)

Gene Wiki entry for DKC1 (Dyskerin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DKC1 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   POU2F2C   POU2F1   HSF2   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DKC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DKC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DKC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

DKC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DKC1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153984:  view genomic region     (about GC identifiers)

Start:
153,991,031 bp from pter      End:
154,005,964 bp from pter
Size:
14,934 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832 (See protein sequence)
Recommended Name: H/ACA ribonucleoprotein complex subunit 4  
Size: 514 amino acids; 57674 Da
Subunit: Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2,
GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a
stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core
via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of
modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The
complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific
interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs
interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is
mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of
the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1,
WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Interacts with
SHQ1; this interaction may lead to the stabilization of DKC1, from the time of its synthesis until its
association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA
Subcellular location: Isoform 1: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies
(coiled bodies)
Subcellular location: Isoform 3: Cytoplasm
Secondary accessions: F5BSB3 O43845 Q96G67 Q9Y505
Alternative splicing: 2 isoforms:  O60832-1   O60832-2   

Explore the universe of human proteins at neXtProt for DKC1: NX_O60832

Explore proteomics data for DKC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60832

  • 4/14 DME Specific Peptides for DKC1 (O60832) (see all 14)
     SHEVVAW  LDPKVTG  AVKRQLR  WPLLLKN 

    DKC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DKC1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001135935.1  NP_001354.1  

    ENSEMBL proteins: 
     ENSP00000358563   ENSP00000400542   ENSP00000407325   ENSP00000395693   ENSP00000389304  
     ENSP00000407253  
    Reactome Protein details: O60832
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005697telomerase holoenzyme complex IDA12135483
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    DKC1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR004802 tRNA_PsdUridine_synth_B_fam
     IPR002501 PsdUridine_synth
     IPR012960 Dyskerin-like
     IPR004521 Uncharacterised_CHP00451
     IPR020103 PsdUridine_synth_cat_dom

    Graphical View of Domain Structure for InterPro Entry O60832

    ProtoNet protein and cluster: O60832

    2 Blocks protein domains:
    IPB002501 Pseudouridylate synthase TruB
    IPB012960 DKCLD


    UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832
    Similarity: Belongs to the pseudouridine synthase TruB family
    Similarity: Contains 1 PUA domain


    DKC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DKC1_HUMAN, O60832
    Function: Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of
    H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This
    involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal
    N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation
    of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the
    telomerase reverse transcriptase (TERT) holoenzyme
    Function: Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate
    and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells)
    Catalytic activity: RNA uridine = RNA pseudouridine

         Genatlas biochemistry entry for DKC1:
    dyskerin,multifunctional protein,mainly expressed in the rapidly dividing cells of the epithelia and the
    hemopoietic system located in the nucleoli and the coiled bodies,possibly in pseudo-uridylation,involved in rRNA
    biosynthesis,ribosomal subunit assembly,and/or centromere/microtubule binding,ortholog of the rat NAP57 and yeast
    CBF5

         Enzyme Numbers (IUBMB): EC 5.4.992 EC 5.4.99.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003720telomerase activity IDA12135483
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI16601202
    GO:0009982pseudouridine synthase activity IEA--
         
    DKC1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for DKC1:
     Increased cell death in breast  Reduced beta-catenin activity   Synthetic lethal with Ras 

         15 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Dkc1):
     adipose tissue  cellular  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  no phenotypic analysis 
     normal  renal/urinary system  reproductive system  respiratory system  tumorigenesis 

    DKC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DKC1: Dkc1tm1Ppp Dkc1tm2.1Bsl Dkc1tm1.1Bsl Dkc1tm1.1Pjma

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    SwitchGear 3'UTR luciferase reporter plasmidDKC1 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DKC1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Lagging Strand Synthesis
    Extension of Telomeres0.92
    2Cell Cycle
    Cell Cycle0.84
    3Apoptotic Pathways in Synovial Fibroblasts
    Telomerase Components in Cell Signaling0.72
    4Packaging Of Telomere Ends
    Telomere Maintenance0.56
    5Meiotic Synapsis
    Chromosome Maintenance0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for DKC1
        Telomerase Components in Cell Signaling

    1 BioSystems Pathway for DKC1
        Regulation of Telomerase

    5        Reactome Pathways for DKC1
        Extension of Telomeres
    Telomere Maintenance
    Cell Cycle
    Chromosome Maintenance
    Telomere Extension By Telomerase


    1         Kegg Pathway  (Kegg details for DKC1):
        Ribosome biogenesis in eukaryotes


    DKC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DKC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/166 Interacting proteins for DKC1 (O608321, 2, 3 ENSP000003585634) via UniProtKB, MINT, STRING, and/or I2D (see all 166)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF3FO003032, 3, ENSP000003100404MINT-63045 I2D: score=5 STRING: ENSP00000310040
    SSR1P433072, 3, ENSP000002447634MINT-63758 I2D: score=5 STRING: ENSP00000244763
    EEF1GP266412, 3MINT-63185 I2D: score=5 
    MAPK6Q166592, 3MINT-8260988 I2D: score=2 
    RUVBL1Q9Y2651, 3, ENSP000003182974EBI-713091,EBI-353675 I2D: score=2 STRING: ENSP00000318297
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS--
    GO:0001522pseudouridine synthesis IEA--
    GO:0006364rRNA processing IEA--
    GO:0006396RNA processing TAS9590285
    GO:0007004telomere maintenance via telomerase TAS--

    DKC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DKC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    2 HMDB Compounds for DKC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pseudouridine5-(b-D-Ribofuranosyl)uracil (see all 12)1445-07-4--
    Uridine1-b-D-Ribofuranosyl-2,4(1H,3H)-pyrimidinedione (see all 9)58-96-8--

    3 Novoseek inferred chemical compound relationships for DKC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudouridine 88.2 9 12681984 (1), 10591218 (1), 15240872 (1), 19755982 (1) (see all 7)
    uridine 50.8 1 15240872 (1)
    rrna 45.2 4 12446766 (1), 15240872 (1), 15753647 (1)

    Search CenterWatch for drugs/clinical trials and news about DKC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DKC1 gene (2 alternative transcripts): 
    NM_001142463.1  NM_001363.3  

    Unigene Cluster for DKC1:

    Dyskeratosis congenita 1, dyskerin
    Hs.4747  [show with all ESTs]
    Unigene Representative Sequence: NM_001363
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369550(uc004fmm.3 uc010nvf.3) ENST00000475423 ENST00000413910
    ENST00000473552 ENST00000452771 ENST00000437719 ENST00000412124 ENST00000426673
    ENST00000484317 ENST00000475966 ENST00000481062 ENST00000492372
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF067008.1 AK225077.1 AK307672.1 BC009928.2 BC010015.2 JF279874.1 U59151.1 

    15 DOTS entries:

    DT.316838  DT.100656217  DT.99997122  DT.91776286  DT.95258819  DT.121317885  DT.100656222  DT.121317869 
    DT.95141781  DT.97860836  DT.92376532  DT.92413831  DT.95360933  DT.97779593  DT.100848559 

    24/460 AceView cDNA sequences (see all 460):

    AI141053 AA744524 BI855668 AI277477 BX100450 BI093864 BX327599 AI953143 
    AI185389 BM999763 CB269112 BM982276 BU171151 BF817484 AW779037 CR594895 
    BE280855 BU849864 BI858251 BQ009951 BM799563 BQ775805 CD367400 BM827016 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DKC1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15
    SP1:                                      -                             -                 -                                                                     
    SP2:                                      -                             -                                                                                       
    SP3:                                      -           -                 -                                                                                       
    SP4:                                      -                                                                                                                     
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for DKC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DKC1 expression in normal human tissues (normalized intensities)      DKC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DKC1 Expression
    About this image


    DKC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             cord blood   
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Umbilical Cord (Extraembryonic Tissues)
             cord blood   
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Lymph (Hematopoietic System)

    See DKC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DKC1

    SOURCE GeneReport for Unigene cluster: Hs.4747

    UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832
    Tissue specificity: Ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including DKC1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DKC1 gene from 10/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dkc11 , 5 dyskeratosis congenita 1, dyskerin homolog (human)5
    dyskeratosis congenita 1, dyskerin1
    89.06(n)1
    91.94(a)1
      X (38.15 cM)5
    2454741  NM_001030307.21  NP_001025478.11 
     750958545 
    chicken
    (Gallus gallus)
    Aves DKC11 dyskeratosis congenita 1, dyskerin 75.82(n)
    82.97(a)
      422196  NM_001031115.1  NP_001026286.1 
    lizard
    (Anolis carolinensis)
    Reptilia DKC16
    dyskeratosis congenita 1, dyskerin
    69(a)
    1 ↔ 1
    GL343202.1(2094155-2107621)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.214102 Xenopus laevis cDNA clone 5G23 77.18(n)    AJ009279.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa28f102 Danio rerio, clone IMAGE5413486, mRNA, partial cds 76.33(n)    BC047840.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nop60B1 , 3 rRNA processing pseudouridylate
    synthase3
    Nucleolar protein at 60B1
    73(a)3
    63.1(n)1
    67.34(a)1
      60C23
    378731  NM_001169818.21  NP_001163289.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K01G5.51 , 3 centromere/microtubule binding protein3
    Protein K01G5.51
    67(a)3
    62(n)1
    66.82(a)1
      III(10820090-10821576)3
    1765041  NM_066969.31  NP_499370.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CBF5(YLR175W)4
    CBF51
    Pseudouridine synthase catalytic subunit of box H/ACA small nucleolar ribonucleoprotein particles (snoRNPs), acts on both large and small rRNAs and on snRNA U2; mutations in human ortholog dyskerin cause the disorder dyskeratosis congenita less4
    Cbf5p1
    60.37(n)1
    64.54(a)1
      12(506134-507585)4
    8508721, 4  NP_013276.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NAP571 H/ACA ribonucleoprotein complex subunit 4 62.89(n)
    64.74(a)
      824882  NM_115574.2  NP_191274.1 
    rice
    (Oryza sativa)
    Liliopsida Os.134642 Oryza sativa (japonica cultivar-group) cDNA cloneJ033094C11, full insert sequence less 73.32(n)    AK102460.1 


    ENSEMBL Gene Tree for DKC1 (if available)
    TreeFam Gene Tree for DKC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/319 SNPs in DKC1 are shown (see all 319)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0068144
    Dyskeratosis congenita, X-linked recessive (XDKC)4--see VAR_0068142 L Y mis40--------
    VAR_0638214
    Dyskeratosis congenita, X-linked recessive (XDKC)4--see VAR_0638212 L S mis40--------
    rs1219123031,2,4
    CDyskeratosis congenita, X-linked recessive (XDKC)4 pathogenic1153859637(+) CATGGC/TGGATG 4 A V mis10--------
    rs1219122931,2,4
    CDyskeratosis congenita, X-linked recessive (XDKC)4 pathogenic1153862132(+) AAGAAG/TTTCTT 4 V F mis10--------
    rs289360721,2,4
    CHoyeraal-Hreidarsson syndrome (HHS)4 pathogenic1153862139(+) TCTTAC/TCAAAC 4 T I mis1 ese30--------
    rs1219122961,2,4
    CDyskeratosis congenita, X-linked recessive (XDKC)4 pathogenic1153862141(+) TTATCA/GAACCT 4 K E mis10--------
    rs1219122921,2,4
    CDyskeratosis congenita, X-linked recessive (XDKC)4 pathogenic1153862145(+) CAAACC/GTGAAT 4 P R mis10--------
    rs1219123021,2,4
    CDyskeratosis congenita, X-linked recessive (XDKC)4 pathogenic1153862147(+) AACCTA/GAATCC 4 K E mis10--------
    rs1219123041,2,4
    CHoyeraal-Hreidarsson syndrome (HHS)4 pathogenic1153862172(+) GGACAC/TGTCTC 4 T M mis10--------
    rs1219123011,2,4
    CDyskeratosis congenita, X-linked recessive (XDKC)4 pathogenic1153862596(+) TGTAAC/GGACAA 4 T R mis10--------

    HapMap Linkage Disequilibrium report for DKC1 (153991031 - 154005964 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DKC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv33784CNV Gain+Loss17666407


    Human Gene Mutation Database (HGMD): DKC1

    Locus Specific Mutation Databases (LSDB): DKC1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DKC1
    DNA2.0 Custom Variant and Variant Library Synthesis for DKC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300126   
    OMIM disorders: 305000  300240  
    UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832
  • Dyskeratosis congenita, X-linked recessive (XDKC) [MIM:305000]: A rare, progressive bone marrow failure
    syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal
    leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary
    complications, or malignancy. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]: A multisystem disorder affecting males and
    characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/29 diseases for DKC1 (see all 29):    About MalaCards
    dyskeratosis congenita    dyskeratosis congenita-1    leukoplakia    dkc1-related dyskeratosis congenita
    dyskeratosis congenita x-linked    torch syndrome    pancytopenia    intrauterine infections
    pseudo-torch syndrome    cerebellar hypoplasia    renal agenesis    aplastic anemia
    fanconi's anemia    spinal muscular atrophy    severe combined immunodeficiency    muscular atrophy
    microcephaly    anemia    malignant glioma    colon adenocarcinoma

    2 diseases from the University of Copenhagen DISEASES database for DKC1:
    Dyskeratosis congenita     pseudo-TORCH syndrome

    DKC1 for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for DKC1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dyskeratosis congenita 98.7 51 10903840 (2), 15304085 (2), 10556300 (2), 16427014 (2) (see all 42)
    hoyeraal-hreidarsson syndrome 95.6 5 10903840 (1), 10583221 (1), 11491307 (1), 12833411 (1) (see all 5)
    nail dystrophy 89.6 1 11833778 (1)
    dyskeratosis congenita, autosomal dominant 81.8 1 14758110 (1)
    leukoplakia 79.9 1 11833778 (1)
    anemia aplastic 74.4 2 10583221 (1), 15814878 (1)
    cerebellar hypoplasia 61.5 1 10583221 (1)
    skin abnormalities 56.6 1 16690864 (1)
    pancytopenia 49.4 1 11491307 (1)
    fanconis anemia 46.5 1 10744426 (1)

    Genatlas disease: DKC1
    dyskeratosis congenita,X-linked recessive,characterized by early reticulate skin pigmentation,nail
    dystrophy,mucosal leukoplakia and progressive bone-marrow failure,including any form of Bloch Sulzberger
    incontinentia pigmenti and an increased susceptibility to a range of malignancies,including Hoyeraal-Hreidarsson
    syndrome,X-linked recessive,aplastic anemia,immunodeficiency,microcephaly,cerebellar hypoplasia and growth
    retardation

    Genetic Association Database (GAD): DKC1
    Human Genome Epidemiology (HuGE) Navigator: DKC1 (2 documents)

    Export disorders for DKC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DKC1 gene, integrated from 9 sources (see all 188):
    (articles sorted by number of sources associating them with DKC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. (PubMed id 9888995)1, 2, 3, 9 Hassock S.... Giannelli F. (1999)
    2. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (PubMed id 9590285)1, 2, 3, 9 Heiss N.S.... Dokal I. (1998)
    3. Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. (PubMed id 10903840)1, 2, 9 Heiss N.S....Poustka A. (2000)
    4. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (PubMed id 10364516)1, 2, 9 Knight S.W.... Poustka A. (1999)
    5. Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. (PubMed id 10556300)1, 2, 9 Heiss N.S....Poustka A. (1999)
    6. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (PubMed id 10583221)1, 2, 9 Knight S.W....Dokal I. (1999)
    7. Identification of a novel mutation in DKC1 in dyskeratosis congenita. (PubMed id 18802941)1, 2, 9 Kurnikova M....Shagin D. (2009)
    8. hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202)1, 2, 9 Hoareau-Aveilla C....Henry Y. (2006)
    9. Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. (PubMed id 16618814)1, 2, 9 Darzacq X.... Meier U.T. (2006)
    10. A telomerase component is defective in the human disease dyskeratosis congenita. (PubMed id 10591218)1, 2, 9 Mitchell J.R.... Collins K. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1736 HGNC: 2890 AceView: DKC1 Ensembl:ENSG00000130826 euGenes: HUgn1736
    ECgene: DKC1 Kegg: 1736 H-InvDB: DKC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DKC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DKC1 Genetics and Cytogenetics in Oncology and Haematology
    DKC1basehttp://bioinf.uta.fi/DKC1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DKC1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DKC1 gene:
    Search GeneIP for patents involving DKC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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