O75916 (RGS9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 132.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Regulator of G-protein signaling 9 Short name=RGS9 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 674 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.8 |
| Subunit structure | 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. Ref.8 |
| Post-translational modification | Retinal isoform 3 is light-dependent phosphorylated at 'Ser-478'. Phosphorylation is decreased by light exposition By similarity. |
| Involvement in disease | Prolonged electroretinal response suppression (PERRS) [MIM:608415]: Characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones. |
| Sequence similarities | Contains 1 DEP domain. Contains 1 G protein gamma domain. Contains 1 RGS domain. |
| Sequence caution | The sequence AAC25430.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O75916-1) Also known as: RGS9L; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: O75916-2) Also known as: RGS9S; The sequence of this isoform differs from the canonical sequence as follows: 470-674: Missing. | ||||||
| Isoform 3 (identifier: O75916-3) Also known as: RGS9-1; The sequence of this isoform differs from the canonical sequence as follows: 216-218: Missing. 470-487: PGQHMAPSPHLTVYTGTC → VMSKLDRRSQLKKELPPK 488-674: Missing. | ||||||
| Isoform 4 (identifier: O75916-4) The sequence of this isoform differs from the canonical sequence as follows: 1-229: Missing. | ||||||
| Isoform 5 (identifier: O75916-5) The sequence of this isoform differs from the canonical sequence as follows: 216-218: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 674 | 674 | Regulator of G-protein signaling 9 | PRO_0000204203 | |||||
Regions | |||||||||
| Domain | 30 – 105 | 76 | DEP | ||||||
| Domain | 219 – 280 | 62 | G protein gamma | ||||||
| Domain | 298 – 413 | 116 | RGS | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 229 | 229 | Missing in isoform 4. | VSP_005674 | |||||
| Alternative sequence | 216 – 218 | 3 | Missing in isoform 3 and isoform 5. | VSP_038381 | |||||
| Alternative sequence | 470 – 674 | 205 | Missing in isoform 2. | VSP_005675 | |||||
| Alternative sequence | 470 – 487 | 18 | PGQHM…YTGTC → VMSKLDRRSQLKKELPPK in isoform 3. | VSP_038382 | |||||
| Alternative sequence | 488 – 674 | 187 | Missing in isoform 3. | VSP_038383 | |||||
| Natural variant | 258 | 1 | S → L. Corresponds to variant rs12452285 [ dbSNP | Ensembl ]. | VAR_051796 | |||||
| Natural variant | 299 | 1 | W → R in PERRS. Ref.9 | VAR_017912 | |||||
Experimental info | |||||||||
| Sequence conflict | 112 | 1 | Q → R in AAG09311. Ref.2 | ||||||
| Sequence conflict | 112 | 1 | Q → R in AAG09312. Ref.2 | ||||||
| Sequence conflict | 142 | 1 | E → G in AAM12647. Ref.3 | ||||||
| Sequence conflict | 306 | 1 | L → S in AAM12646. Ref.3 | ||||||
| Sequence conflict | 319 | 1 | F → S in AAM12647. Ref.3 | ||||||
| Sequence conflict | 336 | 1 | E → G in AAM12647. Ref.3 | ||||||
| Sequence conflict | 392 | 1 | Q → R in AAM12647. Ref.3 | ||||||
| Sequence conflict | 417 | 1 | L → Q in AAC25430. Ref.7 | ||||||
| Sequence conflict | 422 | 1 | E → D in AAC25430. Ref.7 | ||||||
| Sequence conflict | 428 | 1 | K → R in AAM12647. Ref.3 | ||||||
| Sequence conflict | 454 | 1 | E → G in AAM12646. Ref.3 | ||||||
| Sequence conflict | 460 | 1 | E → K in AAG09311. Ref.2 | ||||||
| Sequence conflict | 460 | 1 | E → K in AAG09312. Ref.2 | ||||||
| Sequence conflict | 518 – 519 | 2 | Missing in AAC25430. Ref.7 | ||||||
| Sequence conflict | 527 – 531 | 5 | RVALE → LVVLD in AAC25430. Ref.7 | ||||||
| Sequence conflict | 544 – 549 | 6 | GSMAPR → WSGANP in AAC25430. Ref.7 | ||||||
| Sequence conflict | 555 | 1 | E → D in AAC25430. Ref.7 | ||||||
| Sequence conflict | 561 | 1 | L → R in AAC25430. Ref.7 | ||||||
| Sequence conflict | 564 | 1 | S → P in AAM12647. Ref.3 | ||||||
| Sequence conflict | 566 | 1 | P → T in AAC25430. Ref.7 | ||||||
| Sequence conflict | 574 | 1 | P → L in AAC25430. Ref.7 | ||||||
| Sequence conflict | 599 | 1 | L → V in AAC25430. Ref.7 | ||||||
| Sequence conflict | 668 | 1 | I → T in AAM12646. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular characterization of human and rat RGS9L, a novel splice variant enriched in dopamine target regions, and chromosomal localization of the RGS9 gene." Granneman J.G., Zhai Y., Zhu Z., Bannon M.J., Burchett S.A., Schmidt C.J., Andrade R., Cooper J. Mol. Pharmacol. 54:687-694(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Kidney and Retina. |
| [2] | "Structure, alternative splicing, and expression of the human RGS9 gene." Zhang K., Howes K.A., He W., Pettenati M.J., Palczewski K., Wensel T.G., Baehr W. Gene 240:23-34(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 3 AND 5). |
| [3] | "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)." Puhl H.L. III, Ikeda S.R., Aronstam R.S. Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 4 AND 5). Tissue: Brain. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Brain. |
| [5] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "Homo sapiens regulator of G protein signaling 9." Chatterjee T.K., Fisher R.A. Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 218-674 (ISOFORM 1). |
| [8] | "The DEP domain determines subcellular targeting of the GTPase activating protein RGS9 in vivo." Martemyanov K.A., Lishko P.V., Calero N., Keresztes G., Sokolov M., Strissel K.J., Leskov I.B., Hopp J.A., Kolesnikov A.V., Chen C.-K., Lem J., Heller S., Burns M.E., Arshavsky V.Y. J. Neurosci. 23:10175-10181(2003) [PubMed] [Europe PMC] [Abstract] Cited for: DEP DOMAIN TARGETING FUNCTION. |
| [9] | "Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation." Nishiguchi K.M., Sandberg M.A., Kooijman A.C., Martemyanov K.A., Pott J.W.R., Hagstrom S.A., Arshavsky V.Y., Berson E.L., Dryja T.P. Nature 427:75-78(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PERRS ARG-299. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF071476 mRNA. Translation: AAC64040.1. AF178070 AF178069 Genomic DNA. Translation: AAG09311.1.AF178072 AF178071 Genomic DNA. Translation: AAG09312.1.AF493932 mRNA. Translation: AAM12646.1. AF493933 mRNA. Translation: AAM12647.1. AY585190 mRNA. Translation: AAT79493.1. AY585191 mRNA. Translation: AAT79494.1. AK290535 mRNA. Translation: BAF83224.1. AC015821 Genomic DNA. No translation available. AC060771 Genomic DNA. No translation available. CH471099 Genomic DNA. Translation: EAW88998.1. AF073710 mRNA. Translation: AAC25430.1. Different initiation. |
| IPI | IPI00027385. IPI00216453. IPI00328241. IPI00953975. IPI01009816. |
| RefSeq | NP_001075424.1. NM_001081955.2. NP_003826.2. NM_003835.3. |
| UniGene | Hs.664380. |
3D structure databases | |
| ProteinModelPortal | O75916. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O75916. 1 interaction. |
| STRING | 9606.ENSP00000262406. |
PTM databases | |
| PhosphoSite | O75916. |
Proteomic databases | |
| PaxDb | O75916. |
| PRIDE | O75916. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000262406; ENSP00000262406; ENSG00000108370. ENST00000449996; ENSP00000396329; ENSG00000108370. |
| GeneID | 8787. |
| KEGG | hsa:8787. |
| UCSC | uc002jfd.3. human. uc002jfe.3. human. |
Organism-specific databases | |
| CTD | 8787. |
| GeneCards | GC17P063133. |
| HGNC | HGNC:10004. RGS9. |
| MIM | 604067. gene. 608415. phenotype. |
| neXtProt | NX_O75916. |
| Orphanet | 75374. Bradyopsia. |
| PharmGKB | PA34380. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG327614. |
| HOVERGEN | HBG007404. |
| InParanoid | O75916. |
| KO | K13765. |
| OMA | AKLVEIP. |
| OrthoDB | EOG44XJGT. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | cone_pathway. Visual signal transduction: Cones. rhodopsin_pathway. Visual signal transduction: Rods. |
Gene expression databases | |
| Bgee | O75916. |
| CleanEx | HS_RGS9. |
| Genevestigator | O75916. |
| GermOnline | ENSG00000108370. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.10.10. 1 hit. 1.10.196.10. 1 hit. 4.10.260.10. 1 hit. |
| InterPro | 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_DNA-bd_dom. [Graphical view] |
| Pfam | PF00610. DEP. 1 hit. PF00631. G-gamma. 1 hit. PF00615. RGS. 1 hit. [Graphical view] |
| PRINTS | PR01301. RGSPROTEIN. |
| SMART | SM00049. DEP. 1 hit. SM00224. GGL. 1 hit. SM00315. RGS. 1 hit. [Graphical view] |
| SUPFAM | SSF48670. G-protein_gamma-like. 1 hit. SSF48097. Regulat_G_prot_signal_superfam. 1 hit. |
| PROSITE | PS50186. DEP. 1 hit. PS50058. G_PROTEIN_GAMMA. False negative. PS50132. RGS. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 8787. |
| NextBio | 32954. |
| SOURCE | Search... |
Entry information
| Entry name | RGS9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75916 Secondary accession number(s): A8K3C0 Q9HC33 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
