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ZIRC
ZFIN ID: ZDB-GENE-031118-120
Gene Name: dyskeratosis congenita 1, dyskerin
Gene Symbol: dkc1    Nomenclature History

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Previous Names: fc87a02, fi24a05, fv62a07, wu:fa28f10, wu:fc87a02, wu:fi24a05, wu:fv62a07, zgc:110395

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 21 Mapping Details/Browsers
Description: Predicted to have pseudouridine synthase activity. Involved in definitive hemopoiesis and rRNA processing. Predicted to localize to the box H/ACA snoRNP complex. Used to study dyskeratosis congenita. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita; aplastic anemia; and dyskeratosis congenita. Orthologous to human DKC1 (dyskerin pseudouridine synthase 1).
Genome Resources: Alliance (1),  Gene:613144 (1),  Ensembl(GRCz11):ENSDARG00000016484 (2)
GENE EXPRESSION
All Expression Data: Fig. 3 from Stuckenholz et al., 2009
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la014101Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la022050Tg Transgenic Insertion Unknown Unknown DNA
    la022051Tg Transgenic Insertion Unknown Unknown DNA
    sa10276 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-dkc1 N/A 1
    DISEASE ASSOCIATED WITH dkc1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    X-linked dyskeratosis congenita Alliance Dyskeratosis congenita, X-linked 305000
    DISEASE ASSOCIATED WITH dkc1 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    dyskeratosis congenita WT + MO1-dkc1 standard conditions Zhang et al., 2012
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process definitive hemopoiesis (more)
    Cellular Component box H/ACA snoRNP complex (more)
    Molecular Function pseudouridine synthase activity (more)
    GO Terms (all 12)
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    aberrant processed transcript dkc1-202 (1)    Ensembl 850
    mRNA dkc1-201 (1)    Ensembl 1906
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM dkc1 No data available
    MARKER RELATIONSHIPS
    dkc1 Contained in: [BAC] DKEY-229D11 (1) (order this)
    dkc1 Encodes: [EST] fa28f10, fc87a02, fi24a05, fv62a07
    [cDNA] MGC:110395 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001033107 (1) 1890 bp
    Genomic GenBank:CR792441 (1) 155686 bp
    Select Tool
    Polypeptide UniProtKB:Q498Z9 (1) 507 aa
    Sequence Clusters UniGene:33715 (1)
    Sequence Information (all 24)
    ORTHOLOGY for dkc1 ( Chr: 21 )
    CITATIONS (23)