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Aliases for MB21D1 Gene

Aliases for MB21D1 Gene

  • Mab-21 Domain Containing 1 2 3
  • C6orf150 3 4 6
  • Mab-21 Domain-Containing Protein 1 3 4
  • CGAMP Synthase 3 4
  • H-CGAS 3 4
  • CGAS 3 4
  • Chromosome 6 Open Reading Frame 150 2
  • Cyclic GMP-AMP Synthase 3
  • Protein MB21D1 3
  • EC 2.7.7.86 4

External Ids for MB21D1 Gene

Previous Symbols for MB21D1 Gene

  • C6orf150

Summaries for MB21D1 Gene

GeneCards Summary for MB21D1 Gene

MB21D1 (Mab-21 Domain Containing 1) is a Protein Coding gene. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and Cytosolic sensors of pathogen-associated DNA. 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. 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MB21D1 Gene

Genomics for MB21D1 Gene

Genomic Location for MB21D1 Gene

Start:
73,413,515 bp from pter
End:
73,452,330 bp from pter
Size:
38,816 bases
Orientation:
Minus strand

Genomic View for MB21D1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MB21D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MB21D1 Gene

No data available for Regulatory Elements for MB21D1 Gene

Proteins for MB21D1 Gene

  • Protein details for MB21D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N884-CGAS_HUMAN
    Recommended name:
    Cyclic GMP-AMP synthase
    Protein Accession:
    Q8N884
    Secondary Accessions:
    • L0L2J9
    • Q14CV6
    • Q32NC9
    • Q5SWL0
    • Q5SWL1
    • Q96E45

    Protein attributes for MB21D1 Gene

    Size:
    522 amino acids
    Molecular mass:
    58814 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Monomer in the absence of DNA. Homodimer when bound to DNA.
    SequenceCaution:
    • Sequence=AAH12928.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MB21D1 Gene

    Alternative splice isoforms for MB21D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MB21D1 Gene

Proteomics data for MB21D1 Gene at MOPED

Post-translational modifications for MB21D1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys347, Lys355, and Lys414

Other Protein References for MB21D1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MB21D1 Gene

Domains for MB21D1 Gene

Protein Domains for MB21D1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CGAS_HUMAN
Family:
  • Belongs to the mab-21 family.:
    • Q8N884
genes like me logo Genes that share domains with MB21D1: view

No data available for Gene Families for MB21D1 Gene

Function for MB21D1 Gene

Molecular function for MB21D1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + GTP = 2 diphosphate + cyclic G-P(2-5)A-P(3-5).
UniProtKB/Swiss-Prot EnzymeRegulation: The enzyme activity is strongly increased by double-stranded DNA, but not by single-stranded DNA or RNA.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: By type I interferons.

Enzyme Numbers (IUBMB) for MB21D1 Gene

Gene Ontology (GO) - Molecular Function for MB21D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 23258413
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
GO:0046872 metal ion binding IEA --
GO:0061501 cyclic-GMP-AMP synthase activity IDA 23258413
genes like me logo Genes that share ontologies with MB21D1: view
genes like me logo Genes that share phenotypes with MB21D1: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MB21D1 Gene

Localization for MB21D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MB21D1 Gene

Cytoplasm, cytosol.

Gene Ontology (GO) - Cellular Components for MB21D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MB21D1: view

Pathways for MB21D1 Gene

genes like me logo Genes that share pathways with MB21D1: view

Pathways by source for MB21D1 Gene

Interacting Proteins for MB21D1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000359339%0d%0a9606.ENSP00000331288%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000385269%0d%0a
Selected Interacting proteins: ENSP00000359339 for MB21D1 Gene via STRING

Gene Ontology (GO) - Biological Process for MB21D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002218 activation of innate immune response IMP 23258413
GO:0002230 positive regulation of defense response to virus by host IMP 23258413
GO:0009190 cyclic nucleotide biosynthetic process IDA 23258413
GO:0032481 positive regulation of type I interferon production TAS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with MB21D1: view

Transcripts for MB21D1 Gene

mRNA/cDNA for MB21D1 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MB21D1 Gene

Mab-21 domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MB21D1 Gene

No ASD Table

Relevant External Links for MB21D1 Gene

GeneLoc Exon Structure for
MB21D1
ECgene alternative splicing isoforms for
MB21D1

Expression for MB21D1 Gene

mRNA expression in normal human tissues for MB21D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MB21D1 Gene

This gene is overexpressed in Whole Blood (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for MB21D1 Gene

SOURCE GeneReport for Unigene cluster for MB21D1 Gene Hs.658405

mRNA Expression by UniProt/SwissProt for MB21D1 Gene

Q8N884-CGAS_HUMAN
Tissue specificity: Expressed in the monocytic cell line THP1.
genes like me logo Genes that share expressions with MB21D1: view

Orthologs for MB21D1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MB21D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MB21D1 36
  • 98.79 (n)
  • 97.7 (a)
MB21D1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MB21D1 36
  • 75.15 (n)
  • 65.68 (a)
MB21D1 37
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MB21D1 37
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mb21d1 36
  • 73.8 (n)
  • 63.77 (a)
Mb21d1 16
Mb21d1 37
  • 55 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MB21D1 37
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MB21D1 37
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mb21d1 36
  • 69.63 (n)
  • 57.99 (a)
chicken
(Gallus gallus)
Aves MB21D1 36
  • 59.81 (n)
  • 51.54 (a)
MB21D1 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MB21D1 37
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488048 36
  • 50.23 (n)
  • 39.92 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC557043 36
  • 48.68 (n)
  • 37.47 (a)
mb21d1 37
  • 38 (a)
OneToOne
Species with no ortholog for MB21D1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MB21D1 Gene

ENSEMBL:
Gene Tree for MB21D1 (if available)
TreeFam:
Gene Tree for MB21D1 (if available)

Paralogs for MB21D1 Gene

No data available for Paralogs for MB21D1 Gene

Variants for MB21D1 Gene

Sequence variations from dbSNP and Humsavar for MB21D1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs184310 -- 73,419,619(-) tgcca(C/T)tgcac intron-variant
rs311670 -- 73,429,774(-) atctc(A/C/G)gctca intron-variant
rs311671 -- 73,429,655(-) tagag(A/G)caggg intron-variant
rs311672 -- 73,429,554(-) ccacc(G/T)cgccc intron-variant
rs311673 -- 73,429,316(-) TTTTC(A/G)GTTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MB21D1 Gene

Variant ID Type Subtype PubMed ID
nsv830693 CNV Loss 17160897
nsv886158 CNV Gain 21882294
esv2665458 CNV Deletion 23128226
esv2461232 CNV Deletion 19546169
esv2264885 CNV Deletion 18987734
esv4605 CNV Deletion 18987735
esv2732293 CNV Deletion 23290073
esv6440 CNV Loss 19470904
esv1755651 CNV Deletion 17803354

Relevant External Links for MB21D1 Gene

HapMap Linkage Disequilibrium report
MB21D1

Disorders for MB21D1 Gene

No disorders were found for MB21D1 Gene.

No data available for UniProtKB/Swiss-Prot for MB21D1 Gene

Publications for MB21D1 Gene

  1. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The cytosolic DNA sensor cGAS forms an oligomeric complex with DNA and undergoes switch-like conformational changes in the activation loop. (PMID: 24462292) Zhang X. … Chen Z.J. (Cell Rep. 2014) 3 4
  5. Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway. (PMID: 23258413) Sun L. … Chen Z.J. (Science 2013) 3 4

Products for MB21D1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate MB21D1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for MB21D1
    • Block miRNA regulation of MB21D1 using miScript Target Protectors

    Sources for MB21D1 Gene

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