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    Dkc1 dyskeratosis congenita 1, dyskerin [ Mus musculus (house mouse) ]

    Gene ID: 245474, updated on 31-Jan-2019

    Summary

    Official Symbol
    Dkc1provided by MGI
    Official Full Name
    dyskeratosis congenita 1, dyskerinprovided by MGI
    Primary source
    MGI:MGI:1861727
    See related
    Ensembl:ENSMUSG00000031403
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    BC068171
    Expression
    Broad expression in liver E14 (RPKM 19.1), CNS E11.5 (RPKM 18.3) and 22 other tissues See more
    Orthologs

    Genomic context

    See Dkc1 in Genome Data Viewer
    Location:
    X; X A7.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (75095854..75109777)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (72341193..72355115)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38425 Neighboring gene growth factor receptor bound protein 2-associated protein 3 Neighboring gene acyl-Coenzyme A binding domain containing 5 pseudogene Neighboring gene membrane protein, palmitoylated Neighboring gene predicted pseudogene 6036 Neighboring gene small integral membrane protein 9 Neighboring gene protein phosphatase 1 regulatory subunit 14B pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC107501

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    box H/ACA snoRNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    pseudouridine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    pseudouridine synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    telomerase RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    telomerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to telomerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    RNA modification IEA
    Inferred from Electronic Annotation
    more info
     
    RNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    box H/ACA snoRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    box H/ACA snoRNA metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enzyme-directed rRNA pseudouridine synthesis ISO
    Inferred from Sequence Orthology
    more info
     
    mRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of establishment of protein localization to telomere ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomerase RNA localization to Cajal body ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pseudouridine synthesis IEA
    Inferred from Electronic Annotation
    more info
     
    rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    rRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    rRNA pseudouridine synthesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of telomerase RNA localization to Cajal body ISO
    Inferred from Sequence Orthology
    more info
     
    ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    scaRNA localization to Cajal body ISO
    Inferred from Sequence Orthology
    more info
     
    snRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    snoRNA guided rRNA pseudouridine synthesis ISO
    Inferred from Sequence Orthology
    more info
     
    telomerase RNA stabilization ISO
    Inferred from Sequence Orthology
    more info
     
    telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Cajal body ISO
    Inferred from Sequence Orthology
    more info
     
    box H/ACA snoRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    box H/ACA snoRNP complex ISO
    Inferred from Sequence Orthology
    more info
     
    box H/ACA telomerase RNP complex ISO
    Inferred from Sequence Orthology
    more info
     
    fibrillar center ISO
    Inferred from Sequence Orthology
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    telomerase holoenzyme complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    H/ACA ribonucleoprotein complex subunit DKC1; H/ACA ribonucleoprotein complex subunit 4
    Names
    dyskeratosis congenita 1, dyskerin homolog
    dyskerin
    h/ACA ribonucleoprotein complex subunit 4
    nopp140-associated protein of 57 kDa
    nucleolar protein NAP57
    nucleolar protein family A member 4
    snoRNP protein DKC1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001030307.2NP_001025478.1  H/ACA ribonucleoprotein complex subunit DKC1 isoform 3

      See identical proteins and their annotated locations for NP_001025478.1

      Status: VALIDATED

      Source sequence(s)
      AK136418, AL808110, BY126448
      Consensus CDS
      CCDS41029.1
      UniProtKB/Swiss-Prot
      Q9ESX5
      Related
      ENSMUSP00000033776.8, ENSMUST00000033776.14
      Conserved Domains (4) summary
      cd02572
      Location:88270
      PseudoU_synth_hDyskerin; Pseudouridine synthase, human dyskerin like
      TIGR00425
      Location:56381
      CBF5; rRNA pseudouridine synthase, putative
      pfam01472
      Location:297370
      PUA; PUA domain
      pfam08068
      Location:49106
      DKCLD; DKCLD (NUC011) domain
    2. NM_001359411.1NP_001346340.1  H/ACA ribonucleoprotein complex subunit DKC1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL808110
      Conserved Domains (1) summary
      cl27547
      Location:81406
      TruB_N; TruB family pseudouridylate synthase (N terminal domain)
    3. NM_001359412.1NP_001346341.1  H/ACA ribonucleoprotein complex subunit DKC1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL808110
      Conserved Domains (1) summary
      cl27547
      Location:72397
      TruB_N; TruB family pseudouridylate synthase (N terminal domain)
    4. NM_001359413.1NP_001346342.1  H/ACA ribonucleoprotein complex subunit DKC1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL808110
      Conserved Domains (1) summary
      cl27547
      Location:1178
      TruB_N; TruB family pseudouridylate synthase (N terminal domain)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

      Range
      75095854..75109777
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528023.3XP_006528086.1  H/ACA ribonucleoprotein complex subunit 4 isoform X1

      Conserved Domains (1) summary
      cl27547
      Location:81406
      TruB_N; TruB family pseudouridylate synthase (N terminal domain)
    2. XM_017318488.1XP_017173977.1  H/ACA ribonucleoprotein complex subunit 4 isoform X2

      Conserved Domains (1) summary
      cl27547
      Location:1178
      TruB_N; TruB family pseudouridylate synthase (N terminal domain)
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