Mus musculus Gene: Dkc1
Summary
InnateDB Gene IDBG-156751.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Dkc1
Gene Name dyskeratosis congenita 1, dyskerin
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000031403
Encoded Proteins
dyskeratosis congenita 1, dyskerin homolog (human)
dyskeratosis congenita 1, dyskerin homolog (human)
dyskeratosis congenita 1, dyskerin homolog (human)
dyskeratosis congenita 1, dyskerin homolog (human)
dyskeratosis congenita 1, dyskerin homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000130826:
microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residue U1664 of 28S rRNA. [provided by RefSeq, Feb 2009]
This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome X:75095854-75109777
Strand Forward strand
Band A7.3
Transcripts
ENSMUST00000033776 ENSMUSP00000033776
ENSMUST00000131155 ENSMUSP00000120441
ENSMUST00000132000 ENSMUSP00000121957
ENSMUST00000135389
ENSMUST00000131867
ENSMUST00000140609 ENSMUSP00000117706
ENSMUST00000145222
ENSMUST00000151327
ENSMUST00000153844 ENSMUSP00000121253
ENSMUST00000154936
ENSMUST00000154422
ENSMUST00000137286
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 35 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 35 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003720 telomerase activity
GO:0003723 RNA binding
GO:0004730 pseudouridylate synthase activity
GO:0005515 protein binding
GO:0009982 pseudouridine synthase activity
GO:0030519 snoRNP binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000154 rRNA modification
GO:0001522 pseudouridine synthesis
GO:0006278 RNA-dependent DNA replication
GO:0006396 RNA processing
GO:0009451 RNA modification
Cellular Component
GO:0005634 nucleus
GO:0005697 telomerase holoenzyme complex
GO:0005730 nucleolus
GO:0015030 Cajal body
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Chromosome Maintenance pathway
Telomere Maintenance pathway
Cell Cycle pathway
Telomere Extension By Telomerase pathway
Extension of Telomeres pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Chromosome Maintenance pathway
Telomere Maintenance pathway
Cell Cycle pathway
Telomere Extension By Telomerase pathway
Extension of Telomeres pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.291062
RefSeq NM_001030307 XM_006528023
OMIM
CCDS CCDS41029
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas