Q6ZS82 (R9BP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Regulator of G-protein signaling 9-binding protein

Alternative name(s):
RGS9-anchoring protein

Gene names

Name:	RGS9BP
Synonyms:	R9AP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	235 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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 structure	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.
Involvement in disease	Prolonged electroretinal response suppression (PERRS) [MIM:608415]: Characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2
Sequence similarities	Belongs to the RGS7BP/RGS9BP family.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Coiled coil Transmembrane Transmembrane helix
Molecular function	Signal transduction inhibitor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	detection of light stimulus involved in visual perception Inferred from electronic annotation. Source: Compara negative regulation of signal transduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 235	235	Regulator of G-protein signaling 9-binding protein		PRO_0000287586
Regions
	Topological domain	1 – 210	210	Cytoplasmic Potential
	Transmembrane	211 – 231	21	Helical; Anchor for type IV membrane protein; Potential
	Topological domain	232 – 235	4	Extracellular Potential
	Region	153 – 200	48	SNARE-like By similarity
	Coiled coil	29 – 54	26	Potential
	Coiled coil	144 – 169	26	Potential
Natural variations
	Natural variant	96	1	A → S. Ref.1 Corresponds to variant rs259290 [ dbSNP | Ensembl ].		VAR_032333

Sequences

	Sequence		Length	Mass (Da)
	Q6ZS82 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 54A3CC6CBACAC014	FASTA	235	25,148
	10 20 30 40 50 60 MAREECKALL DGLNKTTACY HHLVLTVGGS ADSQNLRQEL QKTRQKAQEL AVSTCARLTA 70 80 90 100 110 120 VLRDRGLAAD ERAEFERLWV AFSGCLDLLE ADMRRALELG AAFPLHAPRR PLVRTGVAGA 130 140 150 160 170 180 SSGVAARALS TRSLRLEAEG DFDVADLREL EREVLQVGEM IDNMEMKVNV PRWTVQARQA 190 200 210 220 230 AGAELLSTVS AGPSSVVSLQ ERGGGCDPRK ALAAILFGAV LLAAVALAVC VAKLS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-96. Tissue: Cerebellum and Kidney.
[2]	"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: INVOLVEMENT IN PERRS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK124499 mRNA. Translation: BAC85865.1. AK127646 mRNA. Translation: BAC87072.1.
IPI	IPI00382638.
RefSeq	NP_997274.2. NM_207391.2.
UniGene	Hs.528491.
3D structure databases
ProteinModelPortal	Q6ZS82.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000334134.
Polymorphism databases
DMDM	74711357.
Proteomic databases
PaxDb	Q6ZS82.
PRIDE	Q6ZS82.
Protocols and materials databases
DNASU	388531.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000334176; ENSP00000334134; ENSG00000186326.
GeneID	388531.
KEGG	hsa:388531.
UCSC	uc002ntp.1. human.
Organism-specific databases
CTD	388531.
GeneCards	GC19P033166.
HGNC	HGNC:30304. RGS9BP.
HPA	HPA049791.
MIM	607814. gene. 608415. phenotype.
neXtProt	NX_Q6ZS82.
Orphanet	75374. Bradyopsia.
PharmGKB	PA162401280.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40375.
HOGENOM	HOG000136373.
HOVERGEN	HBG059498.
InParanoid	Q6ZS82.
OMA	MSVQNMK.
OrthoDB	EOG4B8JDZ.
PhylomeDB	Q6ZS82.
Gene expression databases
Bgee	Q6ZS82.
CleanEx	HS_RGS9BP.
Genevestigator	Q6ZS82.
Family and domain databases
InterPro	IPR026512. RGS7BP/RGS9BP. IPR026513. RGS9BP. [Graphical view]
PANTHER	PTHR21029. PTHR21029. 1 hit. PTHR21029:SF1. PTHR21029:SF1. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	388531.
NextBio	102108.
SOURCE	Search...

Entry information

Entry name

R9BP_HUMAN

Accession

Primary (citable) accession number: Q6ZS82
Secondary accession number(s): Q6ZVJ6

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 61 of the entry and version 1 of the sequence. [Complete 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.