| Gene Information | |
|---|---|
| Gene Name | MB21D1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 522 |
| Protein Names | Cyclic GMP-AMP synthase (cGAMP synthase) (cGAS) (h-cGAS) (EC 2.7.7.86) (2'3'-cGAMP synthase) (Mab-21 domain-containing protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q8N884 |
| Gene Card | CGAS |
| Uniprot ID | Q8N884 |
| Pfam | PF03281; PF20266 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the monocytic cell line THP1. {ECO:0000269|PubMed:23258413}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 4KM5 (X-ray 2.50A ) 4LEV (X-ray 1.95A ) 4LEW (X-ray 2.04A ) 4MKP (X-ray 1.95A ) 4O67 (X-ray 2.44A ) 4O68 (X-ray 2.44A ) 4O69 (X-ray 2.25A ) 5V8O (X-ray 3.10A ) 5VDO (X-ray 3.22A ) 5VDP (X-ray 2.30A ) 5VDQ (X-ray 3.25A ) 5VDR (X-ray 3.04A ) 5VDS (X-ray 2.77A ) 5VDT (X-ray 2.58A ) 5VDU (X-ray 2.73A ) 5VDV (X-ray 3.00A ) 5VDW (X-ray 2.71A ) 6CT9 (X-ray 2.26A ) 6CTA (X-ray 2.78A ) 6EDB (X-ray 3.21A ) 6EDC (X-ray 2.71A ) 6LRC (X-ray 1.83A ) 6LRE (X-ray 2.65A ) 6LRI (X-ray 2.50A ) 6LRJ (X-ray 3.00A ) 6LRK (X-ray 2.25A ) 6LRL (X-ray 2.65A ) 6MJU (X-ray 2.45A ) 6MJW (X-ray 2.40A ) 6MJX (X-ray 2.60A ) 6NAO (X-ray 3.23A ) 6NFG (X-ray 2.76A ) 6NFO (X-ray 2.93A ) 6O47 (X-ray 2.20A ) 6Y5D (EM 4.10A ) 6Y5E (EM 3.15A ) 7C0M (EM 3.90A ) 7CCQ (EM 3.80A ) 7CCR (EM 4.90A ) |
| DBSNP | rs9352000 rs610913 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:29263269, ECO:0000269|PubMed:29937271, ECO:0000269|PubMed:30270045, ECO:0000269|PubMed:30356214, ECO:0000269|PubMed:30811988, ECO:0000269|PubMed:31299200, ECO:0000269|PubMed:31544964, ECO:0000269|PubMed:31808743, ECO:0000269|PubMed:32792394, ECO:0000269|PubMed:33230297, ECO:0000269|PubMed:33406424, ECO:0000269|PubMed:33476576, ECO:0000269|PubMed:34111399, ECO:0000269|PubMed:35438208}. Chromosome {ECO:0000269|PubMed:30811988, ECO:0000269|PubMed:31299200, ECO:0000269|PubMed:31544964, ECO:0000269|PubMed:32351706, ECO:0000269|PubMed:32912999, ECO:0000269|PubMed:33051594}. Cell membrane {ECO:0000269|PubMed:30827685, ECO:0000269|PubMed:32351706}; Peripheral membrane protein {ECO:0000269|PubMed:30827685}. Cytoplasm, cytosol {ECO:0000269|PubMed:23258413, ECO:0000269|PubMed:26048138, ECO:0000269|PubMed:29263269, ECO:0000269|PubMed:29937271, ECO:0000269|PubMed:30799039, ECO:0000269|PubMed:30827685, ECO:0000269|PubMed:31544964, ECO:0000269|PubMed:31808743, ECO:0000269|PubMed:32792394, ECO:0000269|PubMed:33406424, ECO:0000269|PubMed:33476576, ECO:0000269|PubMed:34111399, ECO:0000269|PubMed:35438208}. Note=Mainly localizes in the nucleus, and at low level in the cytosol (PubMed:31808743, PubMed:31544964). On chromosomes, enriched on centromeric satellite and LINE DNA repeat elements (PubMed:30811988). Exported from the nucleus to the cytosol in a XPO1/CRM1 via the nuclear export signal in response to DNA stimulation (PubMed:33406424). Outside the nucleus, localizes at the cell membrane as a peripheral membrane protein in resting conditions: association to the cell membrane is mediated via binding to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:30827685). Localization at the cell membrane is required to limit the recognition of self-DNA (PubMed:30827685). Following detection of double-stranded DNA (dsDNA), released from the cell membrane into the cytosol in order to signal (PubMed:30827685). Upon transfection with dsDNA forms punctate structures that co-localize with DNA and Beclin-1 (BECN1) (PubMed:26048138). Phosphorylation at Tyr-215 promotes cytosolic retention (PubMed:30356214). In response to translation stress, translocates to the cytosol and associates with collided ribosomes (PubMed:34111399). {ECO:0000269|PubMed:26048138, ECO:0000269|PubMed:30356214, ECO:0000269|PubMed:30811988, ECO:0000269|PubMed:30827685, ECO:0000269|PubMed:31544964, ECO:0000269|PubMed:31808743, ECO:0000269|PubMed:33406424, ECO:0000269|PubMed:34111399}.; Note=(Microbial infection) Upon infection with virulent M.tuberculosis forms aggregates with dsDNA, non-virulent bacteria (without the ESX-1 locus) do not form these aggregates (PubMed:26048138). {ECO:0000269|PubMed:26048138}. |
| Mouse PG classification | NA |
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