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 Innate Immune System and Cytosolic sensors of pathogen-associated DNA. GO annotations related to this gene include GTP binding and cyclic-GMP-AMP synthase activity.
Function:
Nucleotidyltransferase that catalyzes the formation of cyclic GMP-AMP (cGAMP) from ATP and GTP. 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]. 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. 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. 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).
Subcellular Location:
Cytoplasm, cytosol.
Tissue Specificity:
Expressed in the monocytic cell line THP1.
Similarity:
Belongs to the mab-21 family.
SWISS:
Q8N884
Gene ID:
13004
Database links:
Entrez Gene: 13004 Human
Omim: 613973 Human
SwissProt: Q8N884 Human
Unigene: 651685 Human
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