HCSGD entry for DKC1
1. General information
| Official gene symbol | DKC1 |
|---|---|
| Entrez ID | 1736 |
| Gene full name | dyskeratosis congenita 1, dyskerin |
| Other gene symbols | CBF5 DKC DKCX NAP57 NOLA4 XAP101 |
| Links to Entrez Gene | Links to Entrez Gene |
2. Neighbors in the network
This gene isn't in Literature mining network.
3. Gene ontology annotation
GO ID | GO term | Evidence | Category |
|---|---|---|---|
| GO:0000723 | Telomere maintenance | TAS | biological_process |
| GO:0001522 | Pseudouridine synthesis | IEA | biological_process |
| GO:0003720 | Telomerase activity | IDA | molecular_function |
| GO:0003723 | RNA binding | IEA | molecular_function |
| GO:0005515 | Protein binding | IPI | molecular_function |
| GO:0005634 | Nucleus | IDA | cellular_component |
| GO:0005654 | Nucleoplasm | TAS | cellular_component |
| GO:0005697 | Telomerase holoenzyme complex | IDA | cellular_component |
| GO:0005730 | Nucleolus | IDA | cellular_component |
| GO:0005737 | Cytoplasm | IEA | cellular_component |
| GO:0006364 | RRNA processing | IEA | biological_process |
| GO:0006396 | RNA processing | IEA TAS | biological_process |
| GO:0007004 | Telomere maintenance via telomerase | TAS | biological_process |
| GO:0008283 | Cell proliferation | TAS | biological_process |
| GO:0009982 | Pseudouridine synthase activity | IEA | molecular_function |
| GO:0015030 | Cajal body | IEA | cellular_component |
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4. Expression levels in datasets
- Meta-analysis result
| p-value up | p-value down | FDR up | FDR down |
|---|---|---|---|
| 0.9999717108 | 0.0000730063 | 0.9999902473 | 0.0145684211 |
- Individual experiment result
( "-" represent NA in the specific microarray platform )
( "-" represent NA in the specific microarray platform )
| Data source | Up or down | Log fold change |
|---|---|---|
| GSE11954 | - | - |
| GSE13712_SHEAR | - | - |
| GSE13712_STATIC | - | - |
| GSE19018 | - | - |
| GSE19899_A1 | - | - |
| GSE19899_A2 | - | - |
| PubMed_21979375_A1 | - | - |
| PubMed_21979375_A2 | - | - |
| GSE35957 | - | - |
| GSE36640 | - | - |
| GSE54402 | - | - |
| GSE9593 | - | - |
| GSE43922 | - | - |
| GSE24585 | - | - |
| GSE37065 | - | - |
| GSE28863_A1 | - | - |
| GSE28863_A2 | - | - |
| GSE28863_A3 | - | - |
| GSE28863_A4 | - | - |
| GSE48662 | Down | -0.6824839588 |
5. Regulation relationships with compounds/drugs/microRNAs
- Compounds
Not regulated by compounds
- Drugs
Not regulated by drugs
- MicroRNAs
- mirTarBase
MiRNA_name | mirBase ID | miRTarBase ID | Experiment | Support type | References (Pubmed ID) |
|---|---|---|---|---|---|
| hsa-miR-124-3p | MIMAT0000422 | MIRT022796 | Proteomics;Microarray | Non-Functional MTI (Weak) | 18668037 |
| hsa-miR-16-5p | MIMAT0000069 | MIRT031769 | Proteomics | Functional MTI (Weak) | 18668040 |
| hsa-miR-935 | MIMAT0004978 | MIRT036690 | CLASH | Functional MTI (Weak) | 23622248 |
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- mirRecord
No target information from mirRecord
6. Text-mining results about the gene
Gene occurances in abstracts of cellular senescence-associated articles: 7 abstracts the gene occurs.
PubMed ID of the article | Sentenece the gene occurs |
|---|---|
| 26571381 | Incorporation of a dyskerin nuclear localization signal to GSE24 |
| 26571381 | Incorporation of the dyskerin nuclear localization signal to GSE4 did not alter its biological activity |
| 26546739 | The TERT gene encodes for the reverse transcriptase activity of the telomerase complex and mutations in TERT can lead to dysfunctional telomerase activity resulting in diseases such as dyskeratosis congenita (DKC) |
| 26546739 | Here, we describe a novel TERT mutation at position T1129P leading to DKC with progressive bone marrow (BM) failure in homozygous members of a consanguineous family |
| 26546739 | Thus, rapamycin treatment did not rescue the compromised stem cell function of TERTT1129P mutant patient HSCs and outlines limitations of a potential DKC therapy based on rapamycin |
| 24690175 | Acute dyskerin depletion triggers cellular senescence and renders osteosarcoma cells resistant to genotoxic stress-induced apoptosis |
| 24690175 | Dyskerin is a conserved, nucleolar RNA-binding protein implicated in an increasing array of fundamental cellular processes |
| 24690175 | Germline mutation in the dyskerin gene (DKC1) is the cause of X-linked dyskeratosis congenita (DC) |
| 24690175 | Conversely, wild-type dyskerin is overexpressed in sporadic cancers, and high-levels may be associated with poor prognosis |
| 24690175 | It was previously reported that acute loss of dyskerin function via siRNA-mediated depletion slowed the proliferation of transformed cell lines |
| 24690175 | Using human U2OS osteosarcoma cells, we show that siRNA-mediated dyskerin depletion induced cellular senescence as evidenced by proliferative arrest, senescence-associated heterochromatinization and a senescence-associated molecular profile |
| 24690175 | Dyskerin is a core component of the telomerase complex and plays an important role in telomere homeostasis |
| 24690175 | Since U2OS cells are telomerase-negative, this leads us to conclude that loss of dyskerin function can also induce cellular senescence via mechanisms independent of telomere shortening |
| 24065372 | METHODS: Dyskerin was depleted in normal human fibroblasts by expressing two DKC1 shRNAs |
| 24065372 | RESULTS: Dyskerin depletion induced early activation of the p53 pathway probably secondary to ribosome biogenesis failure |
| 23112078 | However, although in most cases SB203580 extended replicative capacity, with the exception of WS and DKC the magnitude of the effect was not significantly different from normal dermal fibroblasts |
| 21241452 | Mutations in DKC1, encoding telomerase associated protein dyskerin, cause X-linked dyskeratosis congenita (DC), a bone marrow (BM) failure, and cancer susceptibility syndrome |
| 21241452 | These results suggest that a pathogenic Dkc1 mutation accelerates stem cell aging, that increased oxidative stress might play a role in the pathogenesis of X-linked DC, and that some manifestations of DC may be prevented or delayed by antioxidant treatment |
| 15769667 | Diseases such as Werner S syndrome, ATM (ataxia telangiectasia mutated kinase), DKC (dyskeratosis congenita), and atherosclerosis have been linked to aberrant telomerase expression and other aging-related tissue malfunctions could be related to the presence of senescent cells changing the cellular microenvironment |
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