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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
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    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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    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
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      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) (see all 7)
    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)      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
     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: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for DKC1
    OriGene qSTAR qPCR primer pairs in human, mouse for DKC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DKC1
    QuantiTect SYBR Green Assays in human, mouse, rat DKC1
    QuantiFast Probe-based Assays in human, mouse, rat DKC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DKC1

    (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)
    About This Section

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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) (see top 10):
    (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)
    11. Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. (PubMed id 19879169)1, 2, 9 Rostamiani K.... Metzenberg A.B. (Blood Cells Mol. Dis. 2010)
    12. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878)1, 4, 9 Yamaguchi H.... Young N.S. (N. Engl. J. Med. 2005)
    13. A new human dyskerin isoform with cytoplasmic localization. (PubMed id 21820037)1, 2 Angrisani A.... Furia M. (Biochim. Biophys. Acta 2011)
    14. X-linked dyskeratosis congenita in Malaysia. (PubMed id 17417794)1, 2 Hamidah A.... Kanegane H. (Pediatr. Blood Cancer 2008)
    15. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    16. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    17. Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. (PubMed id 15044956)1, 2 Wang C. and Meier U.T. (EMBO J. 2004)
    18. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    19. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    20. A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (PubMed id 12437656)1, 2 Cossu F.... Dokal I. (Br. J. Haematol. 2002)
    21. Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PubMed id 11074001)1, 2 Pogacic V.... Filipowicz W. (Mol. Cell. Biol. 2000)
    22. DKC1 overexpression associated with prostate cancer progression. (PubMed id 19755982)1, 9 Sieron P....Schulz W.A. (Br. J. Cancer 2009)
    23. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. (PubMed id 11379875)1, 9 Knight S.W....Dokal I. (Hum. Genet. 2001)
    24. Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations. (PubMed id 19835419)1, 9 Ashbridge B....Balasubramanian S. (Biochemistry 2009)
    25. Novel dyskerin-mediated mechanism of p53 inactivation through defective mRNA translation. (PubMed id 20501855)1, 9 Montanaro L....Derenzini M. (Cancer Res. 2010)
    26. Relationship between dyskerin expression and telomerase activity in human breast cancer. (PubMed id 18936525)1, 9 Montanaro L....Derenzini M. (Cell. Oncol. 2008)
    27. Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. (PubMed id 19734544)1, 9 Grozdanov P.N....Meier U.T. (Hum. Mol. Genet. 2009)
    28. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. (PubMed id 15304085)2, 9 Ding Y.G....Wang B.X. (J. Invest. Dermatol. 2004)
    29. Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. (PubMed id 15613268)1, 9 Marrone A. and Dokal I. (Expert Rev Mol Med 2004)
    30. A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells. (PubMed id 18057229)1, 9 Machado-Pinilla R....Perona R. (Blood 2008)
    31. Dyskeratosis congenita: a genetic disorder of many faces. (PubMed id 18005359)1, 9 Kirwan M. and Dokal I. (Clin. Genet. 2008)
    32. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (PubMed id 20008900)1, 9 Trahan C....Dragon F. (Hum. Mol. Genet. 2010)
    33. The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. (PubMed id 12736709)1, 9 Zucchini C.... Valvassori L. (Int. J. Mol. Med. 2003)
    34. Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers. (PubMed id 20332657)1, 9 Smith I.M....Califano J.A. ( journal for oto-rhino-laryngology and its related specialties 2010)
    35. SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. (PubMed id 19383767)2, 9 Grozdanov P.N.... Meier U.T. (RNA 2009)
    36. Real-time PCR quantification of human DKC1 expression in colorectal cancer. (PubMed id 18607840)1, 9 Turano M....Furia M. (Acta Oncol 2008)
    37. An intronic mutation in DKC1 in an infant with HA,yeraal-Hreidarsson syndrome. (PubMed id 18627054)1, 9 Pearson T....Der Kaloustian V.M. (Am. J. Med. Genet. A 2008)
    38. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. (PubMed id 17015423)1, 9 Wong J.M. and Collins K. (amp 2006)
    39. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. (PubMed id 16690864)1, 9 Yoon A....Ruggero D. (Science 2006)
    40. Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. (PubMed id 19095616)1, 9 Trahan C. and Dragon F. (RNA 2009)
    41. A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. (PubMed id 19179534)2, 9 Venteicher A.S.... Artandi S.E. (Science 2009)
    42. Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly. (PubMed id 18358808)1, 9 Venteicher A.S....Artandi S.E. (Cell 2008)
    43. Protein composition of catalytically active human telomerase from immortal cells. (PubMed id 17395830)1, 9 Cohen S.B....Reddel R.R. (Science 2007)
    44. Mutations of telomerase complex genes linked to bone marrow failures. (PubMed id 17625368)1, 9 Yamaguchi H. (J Nippon Med Sch 2007)
    45. Regulation of telomerase by telomeric proteins. (PubMed id 15189140)1, 9 Smogorzewska A. and de Lange T. (Annu. Rev. Biochem. 2004)
    46. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    47. The human base excision repair enzyme SMUG1 directly interacts with DKC1 and contributes to RNA quality control. (PubMed id 23246433)1 Jobert L....Nilsen H. (Mol. Cell 2013)
    48. Intron retention: a human DKC1 gene common splicing event. (PubMed id 24219293)1 Turano M....Furia M. (Biochem. Cell Biol. 2013)
    49. A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex. (PubMed id 23335200)1 Vogiatzi P....Bessler M. (amp 2013)
    50. The functional interactome landscape of the human histone deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (Mol. Syst. Biol. 2013)
    51. DKC1 gene mutations in human sporadic cancer. (PubMed id 23348390)1 Penzo M....Montanaro L. (Histol. Histopathol. 2013)
    52. Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects. (PubMed id 23660516)1 Brault M.E....Autexier C. (Hum. Mol. Genet. 2013)
    53. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    54. Dyskerin overexpression in human hepatocellular carcinoma is associated with advanced clinical stage and poor patient prognosis. (PubMed id 22912812)1 Liu B....Liu H. (PLoS ONE 2012)
    55. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    56. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    57. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    58. The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita. (PubMed id 22058290)1 Zeng X.L....Wong J.M. (Hum. Mol. Genet. 2012)
    59. High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita. (PubMed id 22664374)1 Carrillo J....Perona R. (amp 2012)
    60. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    61. The H/ACA RNP assembly factor SHQ1 functions as an RNA mimic. (PubMed id 22085966)1 Walbott H....Leulliot N. (amp 2011)
    62. Correlation of dyskerin expression with active proliferation independent of telomerase. (PubMed id 21674675)1 Alawi F....Patel R. (amp 2011)
    63. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    64. Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene. (PubMed id 21736606)1 Coelho J.D....Apetato M. (Pediatr Dermatol 2011)
    65. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. (PubMed id 21415081)1 Parry E.M....Armanios M. (J. Med. Genet. 2011)
    66. Dyskerin is required for tumor cell growth through mechanisms that are independent of its role in telomerase and only partially related to its function in precursor rRNA processing. (PubMed id 21480387)1 Alawi F. and Lin P. (Mol. Carcinog. 2011)
    67. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    68. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    69. Identification of proteins associated with ligand-activated estrogen receptor I+ in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (Proteomics 2011)
    70. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    71. GRIM-1, a novel growth suppressor, inhibits rRNA maturation by suppressing small nucleolar RNAs. (PubMed id 21931644)1 Nallar S.C....Kalvakolanu D.V. (PLoS ONE 2011)
    72. A recurrent p. A353V mutation in DKC1 responsible for different phenotypes of dyskeratosis congenita in a Chinese family. (PubMed id 21601430)1 Lai W....Dai S.h.X. (J. Dermatol. Sci. 2011)
    73. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    74. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    75. rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells. (PubMed id 22099312)1 Jack K....Dinman J.D. (Mol. Cell 2011)
    76. A bead-based approach for large-scale identification of in vitro kinase substrates. (PubMed id 22113938)1 Zhang M....Zou H. (Proteomics 2011)
    77. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    78. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    79. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    80. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    81. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (PLoS ONE 2010)
    82. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    83. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    84. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (Mol. Cell. Proteomics 2009)
    85. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    86. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    87. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1 Meierhofer D.... Kaiser P. (J. Proteome Res. 2008)
    88. Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)2 Han G.... Gu J. (Proteomics 2008)
    89. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    90. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (Mol. Cell 2008)
    91. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    92. DKC1 is a direct and conserved transcriptional target of c-MYC. (PubMed id 17822678)1 Alawi F. and Lee M.N. (Biochem. Biophys. Res. Commun. 2007)
    93. Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation. (PubMed id 18082603)1 Fu D. and Collins K. (Mol. Cell 2007)
    94. Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line. (PubMed id 17487921)2 Giorgianni F.... Beranova-Giorgianni S. (Electrophoresis 2007)
    95. Functional specialization of beta-arrestin interactions revealed by proteomic analysis. (PubMed id 17620599)1 Xiao K....Lefkowitz R.J. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    96. 14-3-3sigma controls mitotic translation to facilitate cytokinesis. (PubMed id 17361185)1 Wilker E.W....Yaffe M.B. (Nature 2007)
    97. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    98. Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220)1 Nousiainen M....KAPrner R. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    99. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    100. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    101. Nucleolar proteome dynamics. (PubMed id 15635413)1 Andersen J.S.... Mann M. (Nature 2005)
    102. Global phosphoproteome of HT-29 human colon adenocarcinoma cells. (PubMed id 16083285)1 Kim J.E....White F.M. (J. Proteome Res. 2005)
    103. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    104. Rescue of an hTERT mutant defective in telomere elongation by fusion with hPot1. (PubMed id 15060173)1 Armbruster B.N....Counter C.M. (Mol. Cell. Biol. 2004)
    105. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)1 Beausoleil S.A.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    106. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
    107. Differential regulation of telomerase activity by six telomerase subunits. (PubMed id 12135483)1 Chang J.T....Cheng A.J. (Eur. J. Biochem. 2002)
    108. Directed proteomic analysis of the human nucleolus. (PubMed id 11790298)1 Andersen J.S.... Lamond A.I. (Curr. Biol. 2002)
    109. Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity. (PubMed id 12137939)1 Salowsky R....Poustka A. (Gene 2002)
    110. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    111. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1 Simpson J.C.... Wiemann S. (EMBO Rep. 2000)
    112. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. (PubMed id 10700698)1 Yaghmai R....Metzenberg A. (J. Pediatr. 2000)
    113. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (Genome Res. 2000)
    114. Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. (PubMed id 10438713)1 Vulliamy T.J....Mason P.J. (Blood 1999)
    115. Dyskeratosis congenita: new clinical and molecular insights into ribosome function. (PubMed id 10217077)1 McGrath J.A. (Lancet 1999)
    116. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (PubMed id 9042917)1 Devriendt K....Fryns J.P. (Am. J. Hum. Genet. 1997)
    117. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
    118. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (PubMed id 7607282)1 Aalfs C.M....Hennekam R.C. (Eur. J. Pediatr. 1995)
    119. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)
    120. Dyskeratosis Congenita (PubMed id 20301779)1 Pagon R.A....Stephens K. (1993)
    121. Dyskerin expression influences the level of ribosomal RNA pseudo-uridylation and telomerase RNA component in human breast cancer. (PubMed id 16841302)9 Montanaro L....Derenzini M. (J. Pathol. 2006)
    122. Dyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance. (PubMed id 18212040)9 Kannan K....Shippen D.E. (Mol. Cell. Biol. 2008)
    123. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. (PubMed id 15240872)9 Mochizuki Y....Mason P.J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    124. Dyskerin, telomerase and the DNA damage response. (PubMed id 19106610)9 Gu B....Mason P.J. (Cell Cycle 2009)
    125. Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal. (PubMed id 10744426)9 Youssoufian H....Qatanani M. (amp 1999)
    126. Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations. (PubMed id 19729012)9 Gu B.W....Mason P.J. (FEBS Lett. 2009)
    127. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. (PubMed id 18523010)9 Vulliamy T....Dokal I. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    128. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. (PubMed id 17663679)9 de la Fuente J. and Dokal I. (Pediatr Transplant 2007)
    129. DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. (PubMed id 12513020)9 Lin J.H....Chao S.C. (Kaohsiung J. Med. Sci. 2002)
    130. Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. (PubMed id 15842668)9 Kanegane H....Miyawaki T. (Br. J. Haematol. 2005)
    131. A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. (PubMed id 12186364)9 Hiramatsu H....Okuno T. (Pediatr Hematol Oncol 2002)
    132. One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). (PubMed id 11491307)9 Heiss N.S....Poustka A. (Genet. Couns. 2001)
    133. Identification of DKC1 gene mutation in an Indian patient. (PubMed id 20091372)9 Tamhankar P.M....Phadke S.R. (Indian J Pediatr 2010)
    134. Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy. (PubMed id 19215059)9 Cottrell C.E....Gastier-Foster J.M. (Am. J. Med. Genet. A 2009)
    135. [Clinical and genetic characteristics of a patient with dyskeratosis congenita]. (PubMed id 20079002)9 Li J.G....Wang T.Y. (Zhonghua Er Ke Za Zhi 2009)
    136. [Dyskeratosis congenita, a disease caused by defective telomere maintenance]. (PubMed id 18405638)9 Hoareau-Aveilla C....Leblanc T. (Med Sci (Paris) 2008)
    137. Dynamic association and localization of human H/ACA RNP proteins. (PubMed id 17135485)9 Kittur N.... Meier U.T. (RNA 2006)
    138. Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. (PubMed id 15753647)9 Cerone M.A....Autexier C. (Cell Cycle 2005)
    139. Dyskeratosis congenita. (PubMed id 12737310)9 Marrone A. and Mason P.J. (Cell. Mol. Life Sci. 2003)
    140. Dyskeratosis congenita: its link to telomerase and aplastic anaemia. (PubMed id 14556776)9 Dokal I. and Vulliamy T. (Blood Rev. 2003)
    141. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. (PubMed id 11574891)9 Vulliamy T....Dokal I. (Nature 2001)
    142. [Genetic analysis of a patient with dyskeratosis congenita]. (PubMed id 10921354)9 Yoshimoto T....Nunoi H. (Rinsho Ketsueki 2000)
    143. Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo. (PubMed id 20351177)9 Egan E.D. and Collins K. (Mol. Cell. Biol. 2010)
    144. Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita. (PubMed id 20453831)9 Bellodi C....Ruggero D. (EMBO J. 2010)
    145. Dyskeratosis congenita, stem cells and telomeres. (PubMed id 19419704)9 Kirwan M. and Dokal I. (Biochim. Biophys. Acta 2009)
    146. Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients. (PubMed id 19036115)9 Kirwan M....Dokal I. (Br. J. Haematol. 2009)
    147. An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (PubMed id 19415813)9 Balci S....Vulliamy T. (J Eur Acad Dermatol Venereol 2009)
    148. Changes in the expression of telomere maintenance genes suggest global telomere dysfunction in B-chronic lymphocytic leukemia. (PubMed id 18077792)9 Poncet D....Gilson E. (Blood 2008)
    149. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (PubMed id 18252230)9 Savage S.A....Alter B.P. (Am. J. Hum. Genet. 2008)
    150. [Abnormality of telomere maintenance linked to bone marrow failures]. (PubMed id 18326318)9 Yamaguchi H. (Nippon Rinsho 2008)
    151. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (PubMed id 17507419)9 Walne A.J.... Dokal I. (Hum. Mol. Genet. 2007)
    152. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (PubMed id 17785587)9 Marrone A.... Dokal I. (Blood 2007)
    153. Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita. (PubMed id 16427014)9 Rashid R....Li H. (Mol. Cell 2006)
    154. Dyskeratosis congenita. (PubMed id 16140563)9 Handley T.P....Ogden G.R. (Oral Oncol. 2006)
    155. Dyskeratosis congenita: telomerase, telomeres and anticipation. (PubMed id 15917199)9 Marrone A....Dokal I. (amp 2005)
    156. Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance. (PubMed id 15974869)9 Mason P.J....Bessler M. (Curr. Mol. Med. 2005)
    157. Dyskeratosis congenita: a disorder of defective telomere maintenance? (PubMed id 16207588)9 Walne A.J....Dokal I. (Int. J. Hematol. 2005)
    158. Telomerase dysfunction and dyskeratosis congenita. (PubMed id 19003239)9 Walne A.J. and Dokal I. (Cytotechnology 2004)
    159. Dyskeratosis congenita and telomerase. (PubMed id 14758110)9 Bessler M....Mason P.J. (Curr. Opin. Pediatr. 2004)
    160. Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis. (PubMed id 12890806)9 Montanaro L....Derenzini M. (J. Clin. Pathol. 2003)
    161. Missense mutation in a patient with X-linked dyskeratosis congenita. (PubMed id 12681984)9 Kraemer D.M. and Goebeler M. (Haematologica 2003)
    162. Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. (PubMed id 11851894)9 Montanaro L....Derenzini M. (J. Invest. Dermatol. 2002)
    163. Immunopurified small nucleolar ribonucleoprotein particles pseudouridylate rRNA independently of their association with phosphorylated Nopp140. (PubMed id 12446766)9 Wang C....Meier U.T. (Mol. Cell. Biol. 2002)
    164. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. (PubMed id 11259155)9 Vulliamy T.J....Dokal I. (amp 2001)
    165. Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p. (PubMed id 11160879)9 Dez C....Henry Y. (Nucleic Acids Res. 2001)
    166. X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. (PubMed id 11641517)9 Safa W.F....Frossard P.M. (Thorax 2001)
    167. Mutation analysis of the DKC1 gene in incontinentia pigmenti. (PubMed id 10636732)9 Heiss N.S....Kenwrick S. (J. Med. Genet. 1999)
    168. Mutant dyskerin ends relationship with telomerase. (PubMed id 10636790)9 Shay J.W. and Wright W.E. (Science 1999)
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    177. The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy. (PubMed id 19129172)9 RenvoisAc B....Lefebvre S. (Hum. Mol. Genet. 2009)
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    Entrez Gene: 1736 HGNC: 2890 AceView: DKC1 Ensembl:ENSG00000130826 euGenes: HUgn1736
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    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DKC1[genesymbol]

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     LSBio Antibodies in human, mouse, rat for DKC1
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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