STING1 stimulator of interferon response cGAMP interactor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STING1provided by HGNC
Official Full Name: stimulator of interferon response cGAMP interactor 1provided by HGNC
Primary source: HGNC:HGNC:27962
See related: Ensembl:ENSG00000184584 MIM:612374; AllianceGenome:HGNC:27962
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ERIS; MITA; MPYS; SAVI; NET23; STING; hMITA; hSTING; TMEM173; STING-beta
Summary: 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]
Expression: Ubiquitous expression in lung (RPKM 37.4), spleen (RPKM 28.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (139475533..139482758, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (140000594..140007823, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (138855118..138862343, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of MAGL attenuates Intervertebral Disc Degeneration by Delaying nucleus pulposus senescence through STING.
Title: Inhibition of MAGL attenuates Intervertebral Disc Degeneration by Delaying nucleus pulposus senescence through STING.
mtDNA regulates cGAS-STING signaling pathway in adenomyosis.
Title: mtDNA regulates cGAS-STING signaling pathway in adenomyosis.
Tracing the STING exocytosis pathway during herpes viruses infection.
Title: Tracing the STING exocytosis pathway during herpes viruses infection.
Deubiquitinase OTUD6a drives cardiac inflammation and hypertrophy by deubiquitination of STING.
Title: Deubiquitinase OTUD6a drives cardiac inflammation and hypertrophy by deubiquitination of STING.
STING is significantly increased in high-grade glioma with high risk of recurrence.
Title: STING is significantly increased in high-grade glioma with high risk of recurrence.
STING signalling compensates for low tumour mutation burden to drive anti-tumour immunity.
Title: STING signalling compensates for low tumour mutation burden to drive anti-tumour immunity.
Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia.
Title: Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia.
Type I IFN in Glomerular Disease: Scarring beyond the STING.
Title: Type I IFN in Glomerular Disease: Scarring beyond the STING.
The cytosolic DNA-sensing cGAS-STING pathway in neurodegenerative diseases.
Title: The cytosolic DNA-sensing cGAS-STING pathway in neurodegenerative diseases.
Aryl hydrocarbon receptor suppresses STING-mediated type I IFN expression in triple-negative breast cancer.
Title: Aryl hydrocarbon receptor suppresses STING-mediated type I IFN expression in triple-negative breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (389)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
STING-associated vasculopathy with onset in infancy MedGen: C4014722 OMIM: 615934 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr antagonizes TMEM173 (STING)-mediated innate immune recognition in TZM-bl STING cells (TZM-bl cells engineered to express TMEM173 (STING))	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S1687E (e-PCR)
- UniSTS:151075

WI-14299 (e-PCR)
- UniSTS:58180

D5S2676 (e-PCR)
- UniSTS:42091

D5S2282E (e-PCR)
- UniSTS:154488

D9S290 (e-PCR), detects polymorphism
- UniSTS:47999

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2',3'-cyclic GMP-AMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables 2',3'-cyclic GMP-AMP binding	IDA Inferred from Direct Assay more info	PubMed
enables 2',3'-cyclic GMP-AMP binding	ISS Inferred from Sequence or Structural Similarity more info
enables 2',3'-cyclic GMP-AMP binding	TAS Traceable Author Statement more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables cyclic-di-GMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables cyclic-di-GMP binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables proton channel activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in activation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in antiviral innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cGAS/STING signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cGAS/STING signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to exogenous dsRNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to interferon-beta	IEA Inferred from Electronic Annotation more info
involved_in cellular response to organic cyclic compound	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoplasmic pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	NAS Non-traceable Author Statement more info	PubMed
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	TAS Traceable Author Statement more info	PubMed
involved_in pattern recognition receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of defense response to virus by host	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interferon-beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interferon-beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macroautophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of macroautophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon production	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in reticulophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in reticulophagy	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
part_of STING complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in autophagosome	IBA Inferred from Biological aspect of Ancestor more info
located_in autophagosome	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisome	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	TAS Traceable Author Statement more info
part_of serine/threonine protein kinase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: stimulator of interferon genes protein

Names: N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner; endoplasmic reticulum IFN stimulator; endoplasmic reticulum interferon stimulator; mitochondrial mediator of IRF3 activation; stimulator of interferon protein; sting 1; transmembrane protein 173

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034249.1 RefSeqGene

Range

5033..12258

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1308

mRNA and Protein(s)

NM_001301738.2 → NP_001288667.1 stimulator of interferon genes protein isoform 2

See identical proteins and their annotated locations for NP_001288667.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, resulting in a frameshift. The encoded isoform (2) has a shorter and distinct C-terminus.

Source sequence(s)

AC138517, BI905932, BM708269, BM981219, KF430638

Consensus CDS

CCDS93792.1

UniProtKB/TrEMBL

J3QTB1, V5V0K2

Related

ENSP00000498513.1, ENST00000652110.1

Conserved Domains (1) summary

pfam15009
Location:44 → 253

TMEM173; Transmembrane protein 173
NM_001367258.1 → NP_001354187.1 stimulator of interferon genes protein isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks a coding exon, resulting in a different 5' UTR, and the use of a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC138517

Consensus CDS

CCDS93791.1

UniProtKB/TrEMBL

A0A494C0W5

Related

ENSP00000498768.1, ENST00000651565.1

Conserved Domains (1) summary

pfam15009
Location:1 → 218

TMEM173; Transmembrane protein 173
NM_198282.4 → NP_938023.1 stimulator of interferon genes protein isoform 1

See identical proteins and their annotated locations for NP_938023.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BC047779, BI905932, BM981219

Consensus CDS

CCDS4215.1

UniProtKB/Swiss-Prot

A8K3P6, B6EB35, D6RBX0, D6RE01, D6RID9, Q86WV6

UniProtKB/TrEMBL

A0A2R3XZB7

Related

ENSP00000331288.4, ENST00000330794.9

Conserved Domains (1) summary

pfam15009
Location:44 → 337

TMEM173; Transmembrane protein 173