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

Gene ID: 245474, updated on 18-Feb-2023

Summary

Official Symbol
Dkc1provided by MGI
Official Full Name
dyskeratosis congenita 1, dyskerinprovided by MGI
Primary source
MGI:MGI:1861727
See related
Ensembl:ENSMUSG00000031403 AllianceGenome:MGI:1861727
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
Summary
Predicted to enable box H/ACA snoRNA binding activity; pseudouridine synthase activity; and telomerase RNA binding activity. Predicted to contribute to telomerase activity. Acts upstream of or within ncRNA metabolic process and positive regulation of DNA biosynthetic process. Located in Cajal body and nucleolus. Is expressed in several structures, including brain; epithelium; genitourinary system; skin; and surface ectoderm. 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]
Expression
Broad expression in liver E14 (RPKM 19.1), CNS E11.5 (RPKM 18.3) and 22 other tissues See more
Orthologs
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Genomic context

See Dkc1 in Genome Data Viewer
Location:
X; X A7.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (74139460..74153382)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (75095854..75109776)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene growth factor receptor bound protein 2-associated protein 3 Neighboring gene predicted gene, 25629 Neighboring gene acyl-Coenzyme A binding domain containing 5 pseudogene Neighboring gene predicted gene, 25520 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (9)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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

General protein information

Preferred Names
H/ACA ribonucleoprotein complex subunit DKC1
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
NP_001025478.1
NP_001346340.1
NP_001346341.1
NP_001346342.1
XP_030107198.1

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_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
    Q3UWE5, Q9ESX5
    Related
    ENSMUSP00000033776.9, ENSMUST00000033776.15
    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 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    74139460..74153382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030251338.1XP_030107198.1  H/ACA ribonucleoprotein complex subunit DKC1 isoform X1

    Conserved Domains (1) summary
    TIGR00425
    Location:56381
    CBF5; rRNA pseudouridine synthase, putative