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MB21D1 Gene

protein-coding   GIFtS: 47
GCID: GC06M074123

Mab-21 Domain Containing 1

(Previous name: chromosome 6 open reading frame 150)
(Previous symbol: C6orf150)
  Search for MB21D1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mab-21 Domain Containing 11 2     h-cGAS2 3
C6orf1501 2 3 5     Chromosome 6 Open Reading Frame 1501
Mab-21 Domain-Containing Protein 12 3     Cyclic GMP-AMP Synthase2
cGAS2 3     Protein MB21D12
CGAMP Synthase2 3     EC 2.7.7.863

External Ids:    HGNC: 213671   Entrez Gene: 1150042   Ensembl: ENSG000001644307   OMIM: 6139735   UniProtKB: Q8N8843   

Export aliases for MB21D1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MB21D1 Gene:
MB21D1 (Mab-21 domain containing 1) is a protein-coding gene. GO annotations related to this gene include cyclic-GMP-AMP synthase activity and GTP binding.

UniProtKB/Swiss-Prot: CGAS_HUMAN, Q8N884
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MB21D1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MB21D1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MB21D1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q13

MB21D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MB21D1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M074123:  view genomic region     (about GC identifiers)

Start:
74,123,238 bp from pter      End:
74,162,043 bp from pter
Size:
38,806 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CGAS_HUMAN, Q8N884 (See protein sequence)
Recommended Name: Cyclic GMP-AMP synthase  
Size: 522 amino acids; 58814 Da
Cofactor: Binds 1 Mg(2+) per subunit (By similarity)
Sequence caution: Sequence=AAH12928.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for MB21D1:
4KM5 (3D)        4LEV (3D)        4LEW (3D)        4MKP (3D)    
Secondary accessions: L0L2J9 Q14CV6 Q32NC9 Q5SWL0 Q5SWL1 Q96E45
Alternative splicing: 2 isoforms:  Q8N884-1   Q8N884-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MB21D1: NX_Q8N884

Explore proteomics data for MB21D1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys347, Lys355, Lys414
  • Modification sites at PhosphoSitePlus

  • See MB21D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612450.2  
    ENSEMBL proteins: 
     ENSP00000359342   ENSP00000359339  
    Reactome Protein details: Q8N884

    MB21D1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR024805 MB21D1
     IPR024810 Mab-21_dom

    Graphical View of Domain Structure for InterPro Entry Q8N884

    ProtoNet protein and cluster: Q8N884

    UniProtKB/Swiss-Prot: CGAS_HUMAN, Q8N884
    Similarity: Belongs to the mab-21 family


    MB21D1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CGAS_HUMAN, Q8N884
    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
    Catalytic activity: ATP + GTP = 2 diphosphate + cyclic 3',5'-AMP-GMP
    Enzyme regulation: The enzyme activity is strongly increased by double-stranded DNA, but not by single-stranded
    DNA or RNA
    Induction: By type I interferons

         Enzyme Number (IUBMB): EC 2.7.7.861

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA--
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IEA--
    GO:0046872metal ion binding IEA--
    GO:0061501cyclic-GMP-AMP synthase activity IDA--
         
    MB21D1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MB21D1:
     G0/1 arrest  Increased G1 DNA content  Increased cell size 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mb21d1):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 

    MB21D1 for phenotypes           About GeneDecksing

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CGAS_HUMAN, Q8N884: Cytoplasm, cytosol

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    MB21D1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MB21D1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    STING mediated induction of host immune responses0.00
    Cytosolic DNA-sensing pathway0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MB21D1
        STING mediated induction of host immune responses


    1 Kegg Pathway  (Kegg details for MB21D1):
        Cytosolic DNA-sensing pathway


    MB21D1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MB21D1
    Interactions:

        Search GeneGlobe Interaction Network for MB21D1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MB21D1 (ENSP000003593394) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002218activation of innate immune response IMP--
    GO:0002230positive regulation of defense response to virus by host IMP--
    GO:0009190cyclic nucleotide biosynthetic process IDA--
    GO:0032481positive regulation of type I interferon production TAS--
    GO:0045087innate immune response TAS--

    MB21D1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MB21D1 (CGAS)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MB21D1 gene: 
    NM_138441.2  

    Unigene Cluster for MB21D1:

    Mab-21 domain containing 1
    Hs.658405  [show with all ESTs]
    Unigene Representative Sequence: BC113606
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370318 ENST00000370315(uc003pgx.1) ENST00000459924
    miRNA
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    Additional mRNA sequence: 

    AK097148.1 BC012928.1 BC108714.1 BC113606.1 BC113608.1 BC143694.1 KC294566.1 

    3 DOTS entries:

    DT.307523  DT.100019953  DT.100751872 

    4 AceView cDNA sequences:

    BC012928 NM_138441 AK097148 BF903988 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MB21D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGAGGGTG
    MB21D1 Expression
    About this image


    MB21D1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    MB21D1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MB21D1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.658405

    UniProtKB/Swiss-Prot: CGAS_HUMAN, Q8N884
    Tissue specificity: Expressed in the monocytic cell line THP1

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MB21D1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mb21d11 , 5 RIKEN cDNA E330016A19 gene5
    Mab-21 domain containing 11
    73.8(n)1
    63.77(a)1
      9 (43.65 cM)5
    2147631  NM_173386.41  NP_775562.21 
     784305265 
    chicken
    (Gallus gallus)
    Aves MB21D11 Mab-21 domain containing 1 59.81(n)
    51.54(a)
      421864  XM_419881.4  XP_419881.4 
    lizard
    (Anolis carolinensis)
    Reptilia MB21D16
    Mab-21 domain containing 1
    40(a)
    1 ↔ 1
    GL343341.1(158817-165850)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004880481 cyclic GMP-AMP synthase-like 50.23(n)
    39.92(a)
      100488048  XM_002937154.2  XP_002937200.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5570431 cyclic GMP-AMP synthase-like 48.68(n)
    37.47(a)
      557043  XM_680019.2  XP_685111.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MB21D1 (see all 647)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs69406111,2
    C,F,H--74134396(+) GTCAAT/ACCTTT 1 -- ds50014Minor allele frequency- A:0.00NS EA WA 294
    rs1160008791,2
    F--74134449(+) TTATTT/CACATT 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1145272821,2
    F--74134475(+) TTGCTG/CTGACA 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1996665511,2
    C--74134574(+) TTTTC-/TTAT  
            
    TTATT
    1 -- ds50010--------
    rs455013981,2
    F--74134592(+) TATTTT/ATTGAG 1 -- ds50012Minor allele frequency- A:0.12NA EA 240
    rs1383319011,2
    --74134638(+) GTGGTA/GCCATC 1 -- ds50010--------
    rs1429040681,2
    C--74134668(+) ACCTCC/GTGGGT 1 -- ds50010--------
    rs1917438571,2
    --74134777(+) TCACCA/TTGTTG 1 -- ds50010--------
    rs1827797841,2
    --74134783(+) TGTTGA/GTCAGG 1 -- ds50010--------
    rs1451058241,2
    --74134832(+) TCGGCC/GTCCAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MB21D1 (74123238 - 74162043 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for MB21D1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1755651CNV Deletion17803354
    esv2461232CNV Deletion19546169
    esv2732293CNV Deletion23290073
    esv2665458CNV Deletion23128226
    esv2264885CNV Deletion18987734
    esv4605CNV Deletion18987735
    nsv830693CNV Loss17160897
    esv6440CNV Loss19470904
    nsv886158CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MB21D1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613973    OMIM disorders: --


    MB21D1 for disorders           About GeneDecksing


    Export disorders for MB21D1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MB21D1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MB21D1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of human cGAS reveals a conserved family of second- messenger enzymes in innate immunity. (PubMed id 23707061)1, 2 Kranzusch P.J.... Doudna J.A. (Cell Rep. 2013)
    2. Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway. (PubMed id 23258413)1, 2 Sun L.... Chen Z.J. (Science 2013)
    3. The innate immune DNA sensor cGAS produces a noncanonical cyclic dinucleotide that activates human STING. (PubMed id 23707065)1, 2 Diner E.J.... Vance R.E. (Cell Rep. 2013)
    4. Structural mechanism of cytosolic DNA sensing by cGAS. (PubMed id 23722159)1, 2 Civril F.... Hopfner K.P. (Nature 2013)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. Cyclic GMP-AMP synthase is an innate immune sensor of HIV and other retroviruses. (PubMed id 23929945)1 Gao D....Chen Z.J. (Science 2013)
    9. The capsids of HIV-1 and HIV-2 determine immune detection of the viral cDNA by the innate sensor cGAS in dendritic cells. (PubMed id 24269171)1 Lahaye X....Manel N. (Immunity 2013)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 115004 HGNC: 21367 AceView: C6orf150 Ensembl:ENSG00000164430 euGenes: HUgn115004
    ECgene: MB21D1 Kegg: 115004 H-InvDB: MB21D1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MB21D1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MB21D1 gene:
    Search GeneIP for patents involving MB21D1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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