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This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
STING1 (Stimulator Of Interferon Response CGAMP Interactor 1) is a Protein Coding gene. Diseases associated with STING1 include Sting-Associated Vasculopathy, Infantile-Onset and Familial Chilblain Lupus. Among its related pathways are Shigellosis and Cytosolic sensors of pathogen-associated DNA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 18724357 |
GO:0008134 | transcription factor binding | IDA | 18818105 |
GO:0019901 | protein kinase binding | IDA,IPI | 21074459 |
GO:0031625 | ubiquitin protein ligase binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000421 | autophagosome membrane | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005741 | mitochondrial outer membrane | IDA | 18818105 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytosolic sensors of pathogen-associated DNA | ||
2 | Innate Immune System |
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3 | Human cytomegalovirus infection | ||
4 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
5 | Herpes simplex virus 1 infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000045 | autophagosome assembly | IBA,IDA | 30568238 |
GO:0002218 | activation of innate immune response | IEA,IMP | 18818105 |
GO:0002230 | positive regulation of defense response to virus by host | IMP | 18818105 |
GO:0002376 | immune system process | IEA | -- |
GO:0006914 | autophagy | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMEM173 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TMEM173 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMEM173 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tmem173 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tmem173 30 31 |
|
OneToOne | |
Sting1 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | TMEM173 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM173 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMEM173 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMEM173 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmem173 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tmem173 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636338 | Uncertain Significance: not provided | 139,476,290(-) | G/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
636667 | Uncertain Significance: not provided | 139,481,665(-) | T/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
639028 | Uncertain Significance: Sting-associated vasculopathy, infantile-onset | 139,476,375(-) | AG/A | FRAMESHIFT_VARIANT | |
639483 | Uncertain Significance: Sting-associated vasculopathy, infantile-onset | 139,481,698(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
641434 | Uncertain Significance: Sting-associated vasculopathy, infantile-onset | 139,476,325(-) | T/C | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
sting-associated vasculopathy, infantile-onset |
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familial chilblain lupus |
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|
sting-associated vasculopathy with onset in infancy |
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herpes simplex |
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vascular skin disease |
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