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DKC1 Gene

protein-coding   GIFtS: 68
GCID: GC0XP153984

Dyskeratosis Congenita 1, Dyskerin


(Previous symbol: DKC)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dyskeratosis Congenita 1, Dyskerin1 2     DKCX2 5
DKC1 2     CBF52
Nopp140-Associated Protein Of 57 KDa2 3     NAP572
Nucleolar Protein Family A Member 42 3     XAP1012
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

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DKC1 Gene:
This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and
maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during
biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly
conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage
response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Jan 2014)

GeneCards Summary for DKC1 Gene:
DKC1 (dyskeratosis congenita 1, dyskerin) is a protein-coding gene. Diseases associated with DKC1 include leukoplakia, and dkc1-related dyskeratosis congenita. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   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 Chromatin IP Primers for DKC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Ubiquitination2 at Lys39, Lys80, Lys151, Lys191, Lys302, Lys394
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DKC1 (O60832) (see all 14)
     SHEVVAW  LDPKVTG  AVKRQLR  WPLLLKN 


    See DKC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001135935.1  NP_001275676.1  NP_001354.1  

    ENSEMBL proteins: 
     ENSP00000358563   ENSP00000400542   ENSP00000407325   ENSP00000395693   ENSP00000389304  
     ENSP00000407253  
    Reactome Protein details: O60832

    DKC1 Human Recombinant Protein Products:

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    Novus Biologicals DKC1 Proteins
    Novus Biologicals DKC1 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003720telomerase activity IDA12135483
    GO:0003723RNA binding TAS10591218
    GO:0005515protein binding IPI16601202
    GO:0009982pseudouridine synthase activity IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    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/body  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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DKC1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DKC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DKC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target DKC1:
    hsa-mir-16-5p (MIRT031769), hsa-mir-935 (MIRT036690), hsa-mir-124-3p (MIRT022796)

    Block miRNA regulation of human, mouse, rat DKC1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate DKC1:
    hsa-miR-3671 hsa-miR-548am hsa-miR-501-5p hsa-miR-4279 hsa-miR-548x hsa-miR-362-5p hsa-miR-548c-3p hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidDKC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DKC1
    Predesigned siRNA for gene silencing in human, mouse, rat DKC1

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DKC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DKC1_HUMAN, O60832: Isoform 1: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies
    (coiled bodies)
    DKC1_HUMAN, O60832: Isoform 3: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion2
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DKC1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Telomere C-strand (Lagging Strand) Synthesis
    Extension of Telomeres0.79
    Telomere Extension By Telomerase0.00
    2Packaging Of Telomere Ends
    Telomere Maintenance0.64
    Chromosome Maintenance0.62
    3Cell Cycle, Mitotic
    Cell Cycle0.90
    4Apoptotic Pathways in Synovial Fibroblasts
    Telomerase Components in Cell Signaling0.72
    5Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for DKC1
        Regulation of Telomerase

    1 Reactome Pathway for DKC1
        Telomere Extension By Telomerase


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


    DKC1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DKC1: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DKC1

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

    Selected Interacting proteins for DKC1 (O608321, 2, 3 ENSP000003585634) via UniProtKB, MINT, STRING, and/or I2D (see all 288)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DKC1

    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), 19729012 (1), 16690864 (1), 19383767 (1) (see top 4)
    uridine 50.8 1 15240872 (1)
    rrna 45.2 4 12446766 (1), 15240872 (1), 15753647 (1)



    DKC1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DKC1 gene (3 alternative transcripts): 
    NM_001142463.2  NM_001288747.1  NM_001363.4  

    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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    8 qRT-PCR Assays for microRNAs that regulate DKC1:
    hsa-miR-3671 hsa-miR-548am hsa-miR-501-5p hsa-miR-4279 hsa-miR-548x hsa-miR-362-5p hsa-miR-548c-3p hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidDKC1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat DKC1
      QuantiFast Probe-based Assays in human, mouse, rat DKC1

    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 

    Selected AceView cDNA sequences (see all 460):

    BX327599 BQ775805 BM980227 BF110054 AI472325 AI857254 BG258928 BU944716 
    BE466199 AA588679 BG169362 BM789717 BI492412 AI081789 CB266071 AI754267 
    BM999763 BU171151 BF817484 BQ428360 AI344205 AI185389 BQ430699 CA425744 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DKC1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Primary Oocyte Primary Follicle
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    DKC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DKC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.4747

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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DKC1 gene from Selected species (see all 29)    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
    88.91(n)1
    91.89(a)1
      X (38.15 cM)5
    2454741  NM_001030307.21  NP_001025478.11 
     750958545 
    chicken
    (Gallus gallus)
    Aves DKC11 dyskeratosis congenita 1, dyskerin 76.77(n)
    86.33(a)
      422196  NM_001031115.1  NP_001026286.1 
    lizard
    (Anolis carolinensis)
    Reptilia DKC16
    dyskeratosis congenita 1, dyskerin
    70(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
    64.71(n)1
    69.53(a)1
      60C23
    378731  NM_001169818.31  NP_001163289.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K01G5.51 , 3 centromere/microtubule binding protein3
    K01G5.51
    67(a)3
    61.79(n)1
    66.13(a)1
      III(10820090-10821576)3
    1765041  NM_066969.41  NP_499370.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CBF5(YLR175W)4
    CBF51
    Pseudouridine synthase catalytic subunit of box H/ACA more4
    CBF51
    61.48(n)1
    66.51(a)1
      12(506134-507585)4
    8508721, 4  NP_013276.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NAP571 NAP57 63.05(n)
    66.98(a)
      824882  NM_115574.2  NP_191274.1 
    rice
    (Oryza sativa)
    Liliopsida Os.134642 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 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)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DKC1 (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
    ----------
    rs1219123031,2,,4
    CDyskeratosis congenita, X-linked (DKCX)4 pathogenic1153859637(+) CATGGC/TGGATG 4 A V mis10--------
    rs1219122931,2,,4
    CDyskeratosis congenita, X-linked (DKCX)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 (DKCX)4 pathogenic1153862141(+) TTATCA/GAACCT 4 K E mis10--------
    rs1219122921,2,,4
    CDyskeratosis congenita, X-linked (DKCX)4 pathogenic1153862145(+) CAAACC/GTGAAT 4 P R mis10--------
    rs1219123021,2,,4
    CDyskeratosis congenita, X-linked (DKCX)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 (DKCX)4 pathogenic1153862596(+) TGTAAC/GGACAA 4 T R mis10--------
    rs1219122971,2,,4
    CDyskeratosis congenita, X-linked (DKCX)4 pathogenic1153862598(+) TAAGGA/GCAACA 4 T A mis10--------
    rs1219123051,2,,4
    CHoyeraal-Hreidarsson syndrome (HHS)4 pathogenic1153862980(+) GGCACA/GGTGGT 4 S G 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

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 300126   
    OMIM disorders: 305000  
    UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832
  • Dyskeratosis congenita, X-linked (DKCX) [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:305000]: A clinically severe variant of dyskeratosis congenita
    that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood.
    Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed
    development, and bone marrow failure resulting in immunodeficiency. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for DKC1 (see all 31):    
    About MalaCards
    leukoplakia    dkc1-related dyskeratosis congenita    dyskeratosis congenita x-linked    torch syndrome
    pancytopenia    intrauterine infections    pseudo-torch syndrome    dyskeratosis congenita
    cerebellar hypoplasia    dyskeratosis congenita, autosomal recessive 4    aplastic anemia    renal agenesis
    fanconi's anemia    spinal muscular atrophy    severe combined immunodeficiency    muscular atrophy
    microcephaly    colon adenocarcinoma    malignant glioma    chronic lymphocytic leukemia

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

    DKC1 for disorders           About GeneDecksing

    Selected 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)
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    PubMed articles for DKC1 gene, integrated from 10 sources (see all 193):
    (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. (Genomics 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. (Nat. Genet. 1998)
    3. Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. (PubMed id 10903840)1, 2, 9 Heiss N.S....Poustka A. (Genomics 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. (Am. J. Hum. Genet. 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. (Hum. Mol. Genet. 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. (Br. J. Haematol. 1999)
    7. Identification of a novel mutation in DKC1 in dyskeratosis congenita. (PubMed id 18802941)1, 2, 9 Kurnikova M....Shagin D. (Pediatr. Blood Cancer 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. (RNA 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. (J. Cell Biol. 2006)
    10. A telomerase component is defective in the human disease dyskeratosis congenita. (PubMed id 10591218)1, 2, 9 Mitchell J.R.... Collins K. (Nature 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1736 HGNC: 2890 AceView: DKC1 Ensembl:ENSG00000130826 euGenes: HUgn1736
    ECgene: DKC1 Kegg: 1736 H-InvDB: DKC1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=DKC1[genesymbol]

    (Patent information from GeneIP,
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    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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