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

    Gene ID: 245474, updated on 26-Nov-2016
    Official Symbol
    Dkc1provided by MGI
    Official Full Name
    dyskeratosis congenita 1, dyskerinprovided by MGI
    Primary source
    MGI:MGI:1861727
    See related
    Ensembl:ENSMUSG00000031403 Vega:OTTMUSG00000020788
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    BC068171
    Orthologs
    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 protein phosphatase 1 regulatory subunit 14B pseudogene Neighboring gene small integral membrane protein 9

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC107501

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    box H/ACA snoRNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    poly(A) RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    pseudouridine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    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
     
    box H/ACA snoRNA metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    mRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    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 modification ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    rRNA pseudouridine synthesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    snRNA pseudouridine synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 RNP complex ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    box H/ACA snoRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    intracellular ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    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
     
    small nucleolar ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    more info
     
    telomerase holoenzyme complex ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    H/ACA ribonucleoprotein complex subunit 4
    Names
    dyskeratosis congenita 1, dyskerin homolog
    dyskerin
    nopp140-associated protein of 57 kDa
    nucleolar protein NAP57
    nucleolar protein family A member 4
    snoRNP protein DKC1

    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 4

      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, OTTMUSP00000022726, ENSMUST00000033776, OTTMUST00000049145
      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

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    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  

      Conserved Domains (4) summary
      cd02572
      Location:113295
      PseudoU_synth_hDyskerin; Pseudouridine synthase, human dyskerin like
      TIGR00425
      Location:81406
      CBF5; rRNA pseudouridine synthase, putative
      pfam01472
      Location:322395
      PUA; PUA domain
      pfam08068
      Location:74131
      DKCLD; DKCLD (NUC011) domain
    2. XM_017318488.1XP_017173977.1  

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