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dkc1 dyskeratosis congenita 1, dyskerin [ Danio rerio (zebrafish) ]

Gene ID: 613144, updated on 17-Sep-2022

Summary

Official Symbol
dkc1provided by ZNC
Official Full Name
dyskeratosis congenita 1, dyskerinprovided by ZNC
Primary source
ZFIN:ZDB-GENE-031118-120
See related
Ensembl:ENSDARG00000016484 AllianceGenome:ZFIN:ZDB-GENE-031118-120
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
fc87a02; fi24a05; fv62a07; wu:fa28f10; wu:fc87a02; wu:fi24a05; wu:fv62a07; zgc:110395
Summary
Predicted to enable pseudouridine synthase activity. Acts upstream of or within definitive hemopoiesis and rRNA processing. Predicted to be part of box H/ACA snoRNP complex. Is expressed in central nervous system; optic tectum; and proliferative region. 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). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

See dkc1 in Genome Data Viewer
Location:
chromosome: 21
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCz11 (GCF_000002035.6) 21 NC_007132.7 (43702016..43716689)
105 previous assembly GRCz10 (GCF_000002035.5) 21 NC_007132.6 (43706840..43721513)
103 previous assembly Zv9 (GCF_000002035.4) 21 NC_007132.5 (42107794..42122467)

Chromosome 21 - NC_007132.7Genomic Context describing neighboring genes Neighboring gene wu:fi34e01 Neighboring gene trimethyllysine hydroxylase, epsilon Neighboring gene PDZ and LIM domain 4 Neighboring gene colony stimulating factor 1 receptor, b

Genomic regions, transcripts, and products

Expression

  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

General gene information

Markers

Homology

Clone Names

  • MGC110395

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables pseudouridine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables pseudouridine synthase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within RNA modification IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within RNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in box H/ACA RNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within definitive hemopoiesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within definitive hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within pseudouridine synthesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within rRNA processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in rRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in snRNA pseudouridine synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of box H/ACA snoRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
H/ACA ribonucleoprotein complex subunit DKC1
NP_001028279.2

NCBI Reference Sequences (RefSeq)

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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_001033107.2NP_001028279.2  H/ACA ribonucleoprotein complex subunit DKC1

    Status: VALIDATED

    Source sequence(s)
    AI477080, AI477818, BC047840, CR792441, CV103822, EB834134
    UniProtKB/TrEMBL
    F1Q749, Q7ZUT3
    Related
    ENSDARP00000007628.9, ENSDART00000017176.10
    Conserved Domains (4) summary
    cd02572
    Location:83265
    PseudoU_synth_hDyskerin; Pseudouridine synthase, human dyskerin like
    TIGR00425
    Location:51376
    CBF5; rRNA pseudouridine synthase, putative
    pfam01472
    Location:292365
    PUA; PUA domain
    pfam08068
    Location:44101
    DKCLD; DKCLD (NUC011) domain

RefSeqs of Annotated Genomes: Danio rerio 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 GRCz11 Primary Assembly

Genomic

  1. NC_007132.7 Reference GRCz11 Primary Assembly

    Range
    43702016..43716689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)