Aliases for MB21D1 Gene
External Ids for MB21D1 Gene
Previous HGNC Symbols for MB21D1 Gene
Previous GeneCards Identifiers for MB21D1 Gene
GeneCards Summary for MB21D1 Gene
MB21D1 (Mab-21 Domain Containing 1) is a Protein Coding gene. Diseases associated with MB21D1 include Aicardi-Goutieres Syndrome and Renpenning Syndrome. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. GO annotations related to this gene include GTP binding and cyclic-GMP-AMP synthase activity.
UniProtKB/Swiss-Prot for MB21D1 Gene
Nucleotidyltransferase that catalyzes the formation of cyclic GMP-AMP (cGAMP) from ATP and GTP (PubMed:28314590). Catalysis involves both the formation of a 2,5 phosphodiester linkage at the GpA step and the formation of a 3,5 phosphodiester linkage at the ApG step, producing c[G(2,5)pA(3,5)p] (PubMed:28363908, PubMed:28214358). Has antiviral activity by acting as a key cytosolic DNA sensor, the presence of double-stranded DNA (dsDNA) in the cytoplasm being a danger signal that triggers the immune responses (PubMed:28363908). Binds cytosolic DNA directly, leading to activation and synthesis of cGAMP, a second messenger that binds to and activates TMEM173/STING, thereby triggering type-I interferon production (PubMed:28363908, PubMed:28314590). cGAMP can be transferred between cells by virtue of packaging within viral particles contributing to IFN-induction in newly infected cells in a cGAS-independent but TMEM173/STING-dependent manner (PubMed:26229115).
(Microbial infection) Upon M.tuberculosis infection THP-1 cells knocked-out for this gene have impaired type-I interferon production (IF-1 beta), nor do they produce type-I IFN upon transfection with dsDNA (PubMed:26048138).