HCSGD entry for SAMHD1
1. General information
| Official gene symbol | SAMHD1 |
|---|---|
| Entrez ID | 25939 |
| Gene full name | SAM domain and HD domain 1 |
| Other gene symbols | CHBL2 DCIP HDDC1 MOP-5 SBBI88 |
| 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:0003676 | Nucleic acid binding | IDA | molecular_function |
| GO:0003723 | RNA binding | IDA | molecular_function |
| GO:0005515 | Protein binding | IPI | molecular_function |
| GO:0005622 | Intracellular | NAS | cellular_component |
| GO:0005634 | Nucleus | IDA | cellular_component |
| GO:0006955 | Immune response | NAS | biological_process |
| GO:0008081 | Phosphoric diester hydrolase activity | IEA | molecular_function |
| GO:0045087 | Innate immune response | IEA | biological_process |
| GO:0045088 | Regulation of innate immune response | IMP | biological_process |
| GO:0046872 | Metal ion binding | IEA | molecular_function |
| GO:0051607 | Defense response to virus | IMP | biological_process |
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4. Expression levels in datasets
- Meta-analysis result
| p-value up | p-value down | FDR up | FDR down |
|---|---|---|---|
| 0.0099761749 | 0.5244725276 | 0.2544407946 | 1.0000000000 |
- 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 | Up | 0.1355561026 |
| GSE13712_SHEAR | Up | 2.0447181373 |
| GSE13712_STATIC | Up | 1.2685908049 |
| GSE19018 | Down | -0.0977451084 |
| GSE19899_A1 | Down | -0.1050835141 |
| GSE19899_A2 | Up | 0.0263442408 |
| PubMed_21979375_A1 | Up | 0.0475706126 |
| PubMed_21979375_A2 | Down | -0.0056331196 |
| GSE35957 | Down | -1.3587710502 |
| GSE36640 | Up | 0.8342883444 |
| GSE54402 | Down | -0.7648757148 |
| GSE9593 | Up | 0.8145471492 |
| GSE43922 | Up | 0.0421399862 |
| GSE24585 | Up | 0.2372629072 |
| GSE37065 | Up | 0.8937449262 |
| GSE28863_A1 | Up | 0.6748215953 |
| GSE28863_A2 | Up | 1.2731239286 |
| GSE28863_A3 | Down | -0.5403882345 |
| GSE28863_A4 | Up | 0.0075260509 |
| GSE48662 | Up | 0.1183405401 |
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-215-5p | MIMAT0000272 | MIRT024909 | Microarray | Functional MTI (Weak) | 19074876 |
| hsa-miR-192-5p | MIMAT0000222 | MIRT026868 | Microarray | Functional MTI (Weak) | 19074876 |
| hsa-miR-30a-5p | MIMAT0000087 | MIRT028643 | Proteomics | Functional MTI (Weak) | 18668040 |
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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: 1 abstracts the gene occurs.
PubMed ID of the article | Sentenece the gene occurs |
|---|---|
| 24445253 | SAMHD1 prevents autoimmunity by maintaining genome stability |
| 24445253 | Mutations in SAMHD1 cause Aicardi-Goutieres syndrome (AGS), an inflammatory disorder that shares phenotypic similarity with systemic lupus erythematosus, including activation of antiviral type 1 interferon (IFN) |
| 24445253 | To further define the pathomechanisms underlying autoimmunity in AGS due to SAMHD1 mutations, we investigated the physiological properties of SAMHD1 |
| 24445253 | Interaction of SAMHD1 with cyclin A was assessed by coimmunoprecipitation and fluorescence cross-correlation spectroscopy |
| 24445253 | Cell cycle-dependent phosphorylation of SAMHD1 was examined in synchronised HeLa cells and using recombinant SAMHD1 |
| 24445253 | SAMHD1 was knocked down by RNA interference |
| 24445253 | RESULTS: We show that increased dNTP pools due to SAMHD1 deficiency cause genome instability in fibroblasts of patients with AGS |
| 24445253 | SAMHD1 is phosphorylated by cyclin A/cyclin-dependent kinase 1 in a cell cycle-dependent manner, and its level fluctuates during the cell cycle, with the lowest levels observed in G1/S phase |
| 24445253 | Knockdown of SAMHD1 by RNA interference recapitulates activation of DNA damage signalling and type 1 IFN activation |
| 24445253 | CONCLUSIONS: SAMHD1 is required for genome integrity by maintaining balanced dNTP pools |
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