MB21D1 Gene
protein-coding GIFtS: 40
GCID: GC06M074123
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|
Mab-21 domain containing 1(Previous name: chromosome 6 open reading frame 150 )
(Previous symbol: C6orf150)
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Aliases
for MB21D1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mab-21 Domain Containing 11 2 | | Protein MB21D12 | | C6orf1501 2 3 | | EC 2.7.7.-3 | | Mab-21 Domain-Containing Protein 12 3 | | CGAS1 | | Chromosome 6 Open Reading Frame 1501 | | CGAMP Synthase3 | | Cyclic GMP-AMP Synthase2 | | H-CGAS1 |
Export aliases for MB21D1 gene to outside databases |
Summaries
for MB21D1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: CGAS_HUMAN, Q8N884Function: Nucleotidyltransferase that catalyzes formation of cyclic GMP-AMP (cGAMP) from ATP and GTP and exhibitsantiviral activity. Has antiviral activity by acting as a key cytosolic DNA sensor, the presence of DNA in thecytoplasm being a danger signal that triggers the immune responses. Binds cytosolic DNA directly, leading toactivation and synthesis of cGAMP, a second messenger that binds to and activates TMEM173/STING, thereby triggeringtype-I interferon production
|
Genomic Views
for MB21D1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007299.13
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MB21D1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MB21D1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 6q13MB21D1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M074123: view genomic region
(about GC identifiers)
Start:
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74,123,238 bp from pter |
End:
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74,162,043 bp from pter |
Size:
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38,806 bases |
Orientation:
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minus strand |
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Proteins
for MB21D1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CGAS_HUMAN, Q8N884 (See
protein sequence)Recommended Name: Cyclic GMP-AMP synthase Size: 522 amino acids; 58814 Da
Subcellular location: Cytoplasm, cytosol
Sequence caution: Sequence=AAH12928.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q14CV6 Q32NC9 Q5SWL0 Q5SWL1 Q96E45Alternative splicing: 2 isoforms: Q8N884-1 Q8N884-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MB21D1: NX_Q8N884
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8N884
MB21D1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_612450.2
ENSEMBL proteins: ENSP00000359342 ENSP00000359339 ENSP00000296913
Human Recombinant Protein Products for MB21D1:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005829 | cytosol |
IDA | -- |
MB21D1 for ontologies About GeneDecksing
MB21D1 Antibody Products:
Assay Products for MB21D1: |
Protein
Domains /
Families
for MB21D1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MB21D1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8N884ProtoNet protein and cluster: Q8N884 UniProtKB/Swiss-Prot: CGAS_HUMAN, Q8N884Similarity: Belongs to the mab-21 family |
Function
for MB21D1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: CGAS_HUMAN, Q8N884Function: Nucleotidyltransferase that catalyzes formation of cyclic GMP-AMP (cGAMP) from ATP and GTP and exhibitsantiviral activity. Has antiviral activity by acting as a key cytosolic DNA sensor, the presence of DNA in thecytoplasm being a danger signal that triggers the immune responses. Binds cytosolic DNA directly, leading toactivation and synthesis of cGAMP, a second messenger that binds to and activates TMEM173/STING, thereby triggeringtype-I interferon productionCatalytic activity: ATP + GTP = 2 diphosphate + cyclic GMP-AMPEnzyme regulation: Nucleotidyltransferase activity is stimulated by DNA but not RNAInduction: By type I interferons Enzyme Number (IUBMB): EC 2.7.7.-1
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
MB21D1 for ontologies About GeneDecksing
Phenotypes:
3 GenomeRNAi human phenotypes for MB21D1:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Mb21d1):
MB21D1 for phenotypes About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MB21D1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MB21D1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for MB21D1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MB21D1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MB21D1 |
|
Pathways & Interactions
for MB21D1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 I2DAbout this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0002218 | activation of innate immune response |
IMP | -- | | GO:0002230 | positive regulation of defense response to virus by host |
IMP | -- | | GO:0009190 | cyclic nucleotide biosynthetic process |
IDA | -- | | GO:0009615 | response to virus |
-- | -- | | GO:0045087 | innate immune response |
IEA | -- |
MB21D1 for ontologies About GeneDecksing
|
Drugs & Compounds
for MB21D1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MB21D1
Search CenterWatch for drugs/clinical trials and news about MB21D1 / CGAS
|
Transcripts
for MB21D1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: BC1136064 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000370318 ENST00000370315(uc003pgx.1) ENST00000296913 ENST00000459924
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MB21D1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MB21D1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MB21D1 (NM_138441) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MB21D1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MB21D1 |
Additional cDNA sequence: AK097148.1 BC012928.1 BC108714.1 BC113606.1 BC113608.1 BC143694.1 3 DOTS entries: DT.307523 DT.100019953 DT.100751872 4 AceView cDNA sequences: NM_138441 BC012928 AK097148 BF903988
GeneLoc Exon Structure
|
Expression
for MB21D1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MB21D1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTGAGGGTG
About this image
See MB21D1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MB21D1
SOURCE GeneReport for Unigene cluster: Hs.658405
UniProtKB/Swiss-Prot: CGAS_HUMAN, Q8N884Tissue specificity: Expressed in the monocytic cell line THP1
SABiosciences Custom PCR Arrays for MB21D1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MB21D1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MB21D1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MB21D1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MB21D1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MB21D1 |
Orthologs
for MB21D1 gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for MB21D1 gene from 4/9 species (see all 9) About this table
ENSEMBL Gene Tree for MB21D1 (if available)
TreeFam Gene Tree for MB21D1 (if available) |
Paralogs
for MB21D1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MB21D1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MB21D1 (74123238 - 74162043 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MB21D1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MB21D1 |
|
Disorders
/ Diseases
for MB21D1 gene
(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.)
About This Section
|
 MB21D1 for disorders About MalaCards
MB21D1 for disorders About GeneDecksing
OMIM gene information: 613973
OMIM disorders: --
Export disorders for MB21D1 gene to outside databases
|
Publications
for MB21D1 gene (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)
About This Section
|
PubMed articles for MB21D1 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with MB21D1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2013)
- 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. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
- A diverse range of gene products are effectors of the type I interferon antiviral response. (PubMed id 21478870)2 Schoggins J.W.... Rice C.M. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
|
External Searches for MB21D1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing MB21D1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MB21D1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MB21D1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MB21D1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for MB21D1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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 | | | MB21D1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MB21D1 |
|  |  |  |  | | | | ThermoFisher Antibodies for MB21D1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MB21D1 |
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