RGS9
Regulator of G-protein signaling 9
Also known as: MGC111763, MGC26458, PERRS, RGS9_HUMAN, RGS9L
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75916
- Gene
- RGS9
- Ensembl
- ENSG00000108370
- Chromosome
- 17
- Canonical length
- 674 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles
OverviewNCBI Gene
This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Canonical amino-acid sequenceUniProt
674 residues, UniProt reviewed canonical sequence.
>O75916|RGS9
1 MTIRHQGQQY RPRMAFLQKI EALVKDMQNP ETGVRMQNQR VLVTSVPHAM TGSDVLQWIV
61 QRLWISSLEA QNLGNFIVRY GYIYPLQDPK NLILKPDGSL YRFQTPYFWP TQQWPAEDTD
121 YAIYLAKRNI KKKGILEEYE KENYNFLNQK MNYKWDFVIM QAKEQYRAGK ERNKADRYAL
181 DCQEKAYWLV HRCPPGMDNV LDYGLDRVTN PNEVKVNQKQ TVVAVKKEIM YYQQALMRST
241 VKSSVSLGGI VKYSEQFSSN DAIMSGCLPS NPWITDDTQF WDLNAKLVEI PTKMRVERWA
301 FNFSELIRDP KGRQSFQYFL KKEFSGENLG FWEACEDLKY GDQSKVKEKA EEIYKLFLAP
361 GARRWINIDG KTMDITVKGL KHPHRYVLDA AQTHIYMLMK KDSYARYLKS PIYKDMLAKA
421 IEPQETTKKS STLPFMRRHL RSSPSPVILR QLEEEAKARE AANTVDITQP GQHMAPSPHL
481 TVYTGTCMPP SPSSPFSSSC RSPRKPFASP SRFIRRPSTT ICPSPIRVAL ESSSGLEQKG
541 ECSGSMAPRG PSVTESSEAS LDTSWPRSRP RAPPKARMAL SFSRFLRRGC LASPVFARLS
601 PKCPAVSHGR VQPLGDVGQQ LPRLKSKRVA NFFQIKMDVP TGSGTCLMDS EDAGTGESGD
661 RATEKEVICP WESLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RGS9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 63 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 63 nTPM
- fallopian tube: 15 nTPM
- pituitary gland: 12 nTPM
- hypothalamus: 11 nTPM
- colon: 8.2 nTPM
- parathyroid gland: 5.2 nTPM
Single-cell type
- rod photoreceptor cells: 906 nCPM
- cone photoreceptor cells: 691 nCPM
- retinal horizontal cells: 162 nCPM
- pancreatic islet cells: 133 nCPM
- brain inhibitory neurons: 119 nCPM
- platelets: 106 nCPM
Immune cell
- gdT-cell: 9.8 nTPM
- memory CD8 T-cell: 6.8 nTPM
- NK-cell: 4 nTPM
- naive CD8 T-cell: 3.2 nTPM
- MAIT T-cell: 2.5 nTPM
- total PBMC: 1.7 nTPM
Brain region
- basal ganglia: 42 nTPM
- hypothalamus: 13 nTPM
- thalamus: 8.6 nTPM
- pons: 8 nTPM
- midbrain: 5.4 nTPM
- medulla oblongata: 4.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RGS9.
Disease | AllUniProt
Conditions RGS9 is implicated in, by any mechanism.
- Prolonged electroretinal response suppression 1 (PERRS1) MIM:608415
Disease | GeneticClinVar
39 pathogenic / likely-pathogenic of 587 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Prolonged electroretinal response suppression 1
- Bradyopsia
- Retinal dystrophy
- Leber congenital amaurosis
- Uterine corpus endometrial carcinoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.85
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.04
- DepMap mean gene effect
- 0.15
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- dark adaptation
- G protein-coupled dopamine receptor signaling pathway
- G protein-coupled receptor signaling pathway
- intracellular signal transduction
- light adaption
- negative regulation of signal transduction
- nervous system development
- regulation of G protein-coupled receptor signaling pathway
- response to amphetamine
- response to estradiol
- visual perception
- regulation of calcium ion export across plasma membrane
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- DEP domain
- G-protein, gamma subunit-like domain
- RGS domain
- G-protein gamma-like domain superfamily
- RGS domain superfamily
- Winged helix-like DNA-binding domain superfamily
- Winged helix DNA-binding domain superfamily
- Regulator of G-protein signalling, DHEX domain
- RGS, subdomain 2
- Regulator of G protein signaling 6/7/9/11
- Regulator of G-protein signalling 6/7/9/11, DHEX domain superfamily
- Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
- Regulator of G protein signaling domain
- GGL domain
- Regulator of G-protein signalling DHEX domain
- Regulator of G protein signaling 9, RGS domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RGS9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RGS9 as an antibody target. Whether an autoantibody or antibody against RGS9 could matter depends on whether native RGS9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RGS9 is annotated at the cell surface, where native RGS9 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RGS9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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