Version 5.4
| Homo sapiens Gene: DKC1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-92073.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | DKC1 | ||||||||||||||||||
| Gene Name | dyskeratosis congenita 1, dyskerin | ||||||||||||||||||
| Synonyms | CBF5; DKC; DKCX; NAP57; NOLA4; XAP101 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000130826 | ||||||||||||||||||
| Encoded Proteins |
dyskeratosis congenita 1, dyskerin
dyskeratosis congenita 1, dyskerin
dyskeratosis congenita 1, dyskerin
dyskeratosis congenita 1, dyskerin
dyskeratosis congenita 1, dyskerin
dyskeratosis congenita 1, dyskerin
dyskeratosis congenita 1, dyskerin
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome X:154762742-154777689 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q28 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Telomere Extension By Telomerase pathway
Chromosome Maintenance pathway
Telomere Maintenance pathway
Cell Cycle pathway
Extension of Telomeres pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI |
Regulation of Telomerase
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| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.4747 Hs.660810 | ||||||||||||||||||
| RefSeq | NM_001142463 NM_001288747 NM_001363 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS14761 CCDS76062 | ||||||||||||||||||
| HPRD | 02129 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||