Human Gene RGS9BP (uc002ntp.1)
  Description: Homo sapiens regulator of G protein signaling 9 binding protein (RGS9BP), mRNA.
RefSeq Summary (NM_207391): The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010].
Transcript (Including UTRs)
   Position: hg19 chr19:33,166,313-33,169,206 Size: 2,894 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr19:33,167,170-33,167,877 Size: 708 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:33,166,313-33,169,206)mRNA (may differ from genome)Protein (235 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: R9BP_HUMAN
DESCRIPTION: RecName: Full=Regulator of G-protein signaling 9-binding protein; AltName: Full=RGS9-anchoring protein;
FUNCTION: Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protecting it from degradation (By similarity).
SUBUNIT: Specifically interacts with isoform RGS9-1 of RGS9. Component of the RGS9-1-Gbeta5 complex composed of RGS9-1, Gbeta5 (GNB5) and RGS9BP (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type IV membrane protein (By similarity).
DISEASE: Defects in RGS9BP 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: Belongs to the RGS7BP/RGS9BP family.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RGS9BP
CDC HuGE Published Literature: RGS9BP

-  MalaCards Disease Associations
  MalaCards Gene Search: RGS9BP
Diseases sorted by gene-association score: bradyopsia* (910), enhanced s-cone syndrome (7)
* = 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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -445.44857-0.520 Picture PostScript Text
3' UTR -467.621329-0.352 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
IPR026512 - RGS7BP/RGS9BP
IPR026513 - RGS9BP

ModBase Predicted Comparative 3D Structure on Q6ZS82
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007601 visual perception
GO:0009968 negative regulation of signal transduction
GO:0050896 response to stimulus
GO:0050908 detection of light stimulus involved in visual perception

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK124499 - Homo sapiens cDNA FLJ42508 fis, clone BRACE2043665.
AK127646 - Homo sapiens cDNA FLJ45744 fis, clone KIDNE2017153.
BC172343 - Synthetic construct Homo sapiens clone IMAGE:100069037, MGC:199048 regulator of G protein signaling 9 binding protein (RGS9BP) mRNA, encodes complete protein.
DQ598110 - Homo sapiens piRNA piR-36176, complete sequence.
AF086461 - Homo sapiens full length insert cDNA clone ZD85E06.

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

Protein Q6ZS82 (Reactome details) participates in the following event(s):

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: NM_207391, NP_997274, Q6ZS82, Q6ZVJ6, R9AP, R9BP_HUMAN
UCSC ID: uc002ntp.1
RefSeq Accession: NM_207391
Protein: Q6ZS82 (aka R9BP_HUMAN)
CCDS: CCDS12424.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_207391.2
exon count: 1CDS single in 3' UTR: no RNA size: 2894
ORF size: 708CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1122.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.