Human Gene RGS9 (ENST00000262406.10_7) from GENCODE V47lift37
  Description: regulator of G protein signaling 9, transcript variant 1 (from RefSeq NM_003835.4)
Gencode Transcript: ENST00000262406.10_7
Gencode Gene: ENSG00000108370.17_12
Transcript (Including UTRs)
   Position: hg19 chr17:63,133,488-63,223,821 Size: 90,334 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr17:63,133,659-63,223,525 Size: 89,867 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:63,133,488-63,223,821)mRNA (may differ from genome)Protein (674 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RGS9_HUMAN
DESCRIPTION: RecName: Full=Regulator of G-protein signaling 9; Short=RGS9;
FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(t)-alpha. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).
SUBUNIT: Heterodimer with Gbeta5. Interacts with RGS7BP, leading to regulate the subcellular location of the heterodimer formed with Gbeta5. Component of the RGS9-1-Gbeta5 complex composed of isoform 3 of RGS9 (RGS9-1), Gbeta5 (GNB5) and RGS9BP (Probable).
SUBCELLULAR LOCATION: Isoform 3: Membrane; Peripheral membrane protein. Note=Isoform 3 is targeted to the membrane via its interaction with RGS9BP (By similarity).
TISSUE SPECIFICITY: Highly expressed in the caudate and putamen, lower levels found in the hypothalamus and nucleus accumbens and very low levels in cerebellum. Not expressed in globus pallidus or cingulate cortex. Isoform 2 is expressed predominantly in pineal gland and retina. Isoform 3 is expressed in retina (abundant in photoreceptors).
DOMAIN: In photoreceptor cells the DEP domain is essential for targeting RGS9 to the outer rod segments.
PTM: Retinal isoform 3 is light-dependent phosphorylated at 'Ser- 478'. Phosphorylation is decreased by light exposition (By similarity).
DISEASE: Defects in RGS9 are a cause of prolonged electroretinal response suppression (PERRS) [MIM:608415]; also known as bradyopsia. PERRS is characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones.
SIMILARITY: Contains 1 DEP domain.
SIMILARITY: Contains 1 G protein gamma domain.
SIMILARITY: Contains 1 RGS domain.
SEQUENCE CAUTION: Sequence=AAC25430.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RGS9
Diseases sorted by gene-association score: bradyopsia* (1685), retinitis pigmentosa 17 (10), retinitis pigmentosa (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.85 RPKM in Brain - Putamen (basal ganglia)
Total median expression: 231.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -76.90171-0.450 Picture PostScript Text
3' UTR -86.80296-0.293 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000591 - DEP_dom
IPR015898 - G-protein_gamma-like_dom
IPR000342 - Regulat_G_prot_signal
IPR024066 - Regulat_G_prot_signal_dom1
IPR016137 - Regulat_G_prot_signal_superfam
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00610 - Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
PF00615 - Regulator of G protein signaling domain
PF00631 - GGL domain
PF18148 - Regulator of G-protein signalling DHEX domain

SCOP Domains:
48670 - Transducin (heterotrimeric G protein), gamma chain
46785 - "Winged helix" DNA-binding domain
48097 - Regulator of G-protein signaling, RGS
53335 - S-adenosyl-L-methionine-dependent methyltransferases

ModBase Predicted Comparative 3D Structure on O75916
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0044877 macromolecular complex binding

Biological Process:
GO:0006457 protein folding
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007212 dopamine receptor signaling pathway
GO:0007399 nervous system development
GO:0007601 visual perception
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway
GO:0009968 negative regulation of signal transduction
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0043627 response to estrogen
GO:0050896 response to stimulus

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0097381 photoreceptor disc membrane


-  Descriptions from all associated GenBank mRNAs
  AK309061 - Homo sapiens cDNA, FLJ99102.
AK290535 - Homo sapiens cDNA FLJ75371 complete cds, highly similar to Homo sapiens regulator of G-protein signaling 9L mRNA.
BC022504 - Homo sapiens regulator of G-protein signaling 9, mRNA (cDNA clone MGC:26458 IMAGE:4801328), complete cds.
AK301719 - Homo sapiens cDNA FLJ52669 complete cds, highly similar to Regulator of G-protein signaling 9.
AK289876 - Homo sapiens cDNA FLJ76703 complete cds, highly similar to Homo sapiens regulator of G-protein signaling 9L (RGS9) mRNA, alternatively spliced long form.
AF071476 - Homo sapiens regulator of G-protein signaling 9L (RGS9) mRNA, alternatively spliced long form, complete cds.
AF493933 - Homo sapiens regulator of G protein signalling 9L (RGS9) mRNA, complete cds, alternatively spliced.
AY585191 - Homo sapiens regulator of G-protein signaling 9L mRNA, complete cds.
KJ901909 - Synthetic construct Homo sapiens clone ccsbBroadEn_11303 RGS9 gene, encodes complete protein.
KR712060 - Synthetic construct Homo sapiens clone CCSBHm_00035207 RGS9 (RGS9) mRNA, encodes complete protein.
AF073710 - Homo sapiens regulator of G-protein signaling 9 mRNA, complete cds.
BC117271 - Homo sapiens regulator of G-protein signaling 9, mRNA (cDNA clone IMAGE:40125822), with apparent retained intron.
BC096843 - Homo sapiens regulator of G-protein signaling 9, mRNA (cDNA clone MGC:111763 IMAGE:6519202), complete cds.
AF493932 - Homo sapiens regulator of G protein signalling 9 (RGS9) mRNA, complete cds.
AY585190 - Homo sapiens regulator of G-protein signaling 9 mRNA, complete cds.
JD485685 - Sequence 466709 from Patent EP1572962.
JD327071 - Sequence 308095 from Patent EP1572962.
JD151436 - Sequence 132460 from Patent EP1572962.
JD402701 - Sequence 383725 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75916 (Reactome details) participates in the following event(s):

R-HSA-8850529 RGS proteins bind GNB5 and CCT/TRiC
R-HSA-8850539 Release of GNB5:RGS dimers from CCT/TRiC
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-391251 Protein folding
R-HSA-392499 Metabolism of proteins
R-HSA-74615 PRKCA/Q phosphorylate RGS9-1:GN5B:RGS9BP
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-2514856 The phototransduction cascade
R-HSA-2187338 Visual phototransduction
R-HSA-418594 G alpha (i) signalling events
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3C0, ENST00000262406.1, ENST00000262406.2, ENST00000262406.3, ENST00000262406.4, ENST00000262406.5, ENST00000262406.6, ENST00000262406.7, ENST00000262406.8, ENST00000262406.9, NM_003835, O75573, O75916, Q696R2, Q8TD64, Q8TD65, Q9HC32, Q9HC33, RGS9_HUMAN, uc317gzv.1, uc317gzv.2
UCSC ID: ENST00000262406.10_7
RefSeq Accession: NM_003835.4
Protein: O75916 (aka RGS9_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.