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

Gene ID: 245474, updated on 8-May-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
105 current GRCm38.p3 (GCF_000001635.23) 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
 
baruol synthase activity IEA
Inferred from Electronic Annotation
more info
 
beta-amyrin synthase activity 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
 
lupeol synthase activity IEA
Inferred from Electronic Annotation
more info
 
o-hydroxylaminobenzoate mutase activity IEA
Inferred from Electronic Annotation
more info
 
pivalyl-CoA mutase 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
    pfam01472
    Location:297370
    PUA; PUA domain
    pfam08068
    Location:48106
    DKCLD; DKCLD (NUC011) domain
    TIGR00425
    Location:56381
    CBF5; rRNA pseudouridine synthase, putative

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000086.7 Reference GRCm38.p3 C57BL/6J

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

mRNA and Protein(s)

  1. XM_006528023.2XP_006528086.1  

    Conserved Domains (4) summary
    cd02572
    Location:113295
    PseudoU_synth_hDyskerin; Pseudouridine synthase, human dyskerin like
    pfam01472
    Location:322395
    PUA; PUA domain
    pfam08068
    Location:73131
    DKCLD; DKCLD (NUC011) domain
    TIGR00425
    Location:81406
    CBF5; rRNA pseudouridine synthase, putative

Alternate Mm_Celera

Genomic

  1. AC_000042.1 Alternate Mm_Celera

    Range
    66500704..66514600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)