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Q6ZS82

- R9BP_HUMAN

UniProt

Q6ZS82 - R9BP_HUMAN

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Protein
Regulator of G-protein signaling 9-binding protein
Gene
RGS9BP, R9AP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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.

GO - Biological processi

  1. detection of light stimulus involved in visual perception Source: Ensembl
  2. negative regulation of signal transduction Source: UniProtKB-KW
  3. phototransduction, visible light Source: Reactome
  4. regulation of rhodopsin mediated signaling pathway Source: Reactome
  5. rhodopsin mediated signaling pathway Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Signal transduction inhibitor

Keywords - Biological processi

Sensory transduction, Vision

Enzyme and pathway databases

ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.

Names & Taxonomyi

Protein namesi
Recommended name:
Regulator of G-protein signaling 9-binding protein
Alternative name(s):
RGS9-anchoring protein
Gene namesi
Name:RGS9BP
Synonyms:R9AP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:30304. RGS9BP.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 210210Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei211 – 23121Helical; Anchor for type IV membrane protein; Reviewed prediction
Add
BLAST
Topological domaini232 – 2354Extracellular Reviewed prediction

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Organism-specific databases

MIMi608415. phenotype.
Orphaneti75374. Bradyopsia.
PharmGKBiPA162401280.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 235235Regulator of G-protein signaling 9-binding protein
PRO_0000287586Add
BLAST

Proteomic databases

PaxDbiQ6ZS82.
PRIDEiQ6ZS82.

Expressioni

Gene expression databases

BgeeiQ6ZS82.
CleanExiHS_RGS9BP.
GenevestigatoriQ6ZS82.

Organism-specific databases

HPAiHPA049791.

Interactioni

Subunit structurei

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.

Protein-protein interaction databases

BioGridi132727. 1 interaction.
STRINGi9606.ENSP00000334134.

Structurei

3D structure databases

ProteinModelPortaliQ6ZS82.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni153 – 20048SNARE-like By similarity
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili29 – 5426 Reviewed prediction
Add
BLAST
Coiled coili144 – 16926 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the RGS7BP/RGS9BP family.

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40375.
HOGENOMiHOG000136373.
HOVERGENiHBG059498.
InParanoidiQ6ZS82.
OMAiIQTGMTG.
OrthoDBiEOG7T4MMS.
PhylomeDBiQ6ZS82.
TreeFamiTF331562.

Family and domain databases

InterProiIPR026512. RGS7BP/RGS9BP.
IPR026513. RGS9BP.
[Graphical view]
PANTHERiPTHR21029. PTHR21029. 1 hit.
PTHR21029:SF1. PTHR21029:SF1. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6ZS82-1 [UniParc]FASTAAdd to Basket

« Hide

MAREECKALL DGLNKTTACY HHLVLTVGGS ADSQNLRQEL QKTRQKAQEL    50
AVSTCARLTA VLRDRGLAAD ERAEFERLWV AFSGCLDLLE ADMRRALELG 100
AAFPLHAPRR PLVRTGVAGA SSGVAARALS TRSLRLEAEG DFDVADLREL 150
EREVLQVGEM IDNMEMKVNV PRWTVQARQA AGAELLSTVS AGPSSVVSLQ 200
ERGGGCDPRK ALAAILFGAV LLAAVALAVC VAKLS 235
Length:235
Mass (Da):25,148
Last modified:July 5, 2004 - v1
Checksum:i54A3CC6CBACAC014
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961A → S.1 Publication
Corresponds to variant rs259290 [ dbSNP | Ensembl ].
VAR_032333

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK124499 mRNA. Translation: BAC85865.1.
AK127646 mRNA. Translation: BAC87072.1.
CCDSiCCDS12424.1.
RefSeqiNP_997274.2. NM_207391.2.
UniGeneiHs.528491.

Genome annotation databases

EnsembliENST00000334176; ENSP00000334134; ENSG00000186326.
GeneIDi388531.
KEGGihsa:388531.
UCSCiuc002ntp.1. human.

Polymorphism databases

DMDMi74711357.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK124499 mRNA. Translation: BAC85865.1 .
AK127646 mRNA. Translation: BAC87072.1 .
CCDSi CCDS12424.1.
RefSeqi NP_997274.2. NM_207391.2.
UniGenei Hs.528491.

3D structure databases

ProteinModelPortali Q6ZS82.
ModBasei Search...

Protein-protein interaction databases

BioGridi 132727. 1 interaction.
STRINGi 9606.ENSP00000334134.

Polymorphism databases

DMDMi 74711357.

Proteomic databases

PaxDbi Q6ZS82.
PRIDEi Q6ZS82.

Protocols and materials databases

DNASUi 388531.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000334176 ; ENSP00000334134 ; ENSG00000186326 .
GeneIDi 388531.
KEGGi hsa:388531.
UCSCi uc002ntp.1. human.

Organism-specific databases

CTDi 388531.
GeneCardsi GC19P033166.
HGNCi HGNC:30304. RGS9BP.
HPAi HPA049791.
MIMi 607814. gene.
608415. phenotype.
neXtProti NX_Q6ZS82.
Orphaneti 75374. Bradyopsia.
PharmGKBi PA162401280.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40375.
HOGENOMi HOG000136373.
HOVERGENi HBG059498.
InParanoidi Q6ZS82.
OMAi IQTGMTG.
OrthoDBi EOG7T4MMS.
PhylomeDBi Q6ZS82.
TreeFami TF331562.

Enzyme and pathway databases

Reactomei REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.

Miscellaneous databases

GenomeRNAii 388531.
NextBioi 102108.
PROi Q6ZS82.
SOURCEi Search...

Gene expression databases

Bgeei Q6ZS82.
CleanExi HS_RGS9BP.
Genevestigatori Q6ZS82.

Family and domain databases

InterProi IPR026512. RGS7BP/RGS9BP.
IPR026513. RGS9BP.
[Graphical view ]
PANTHERi PTHR21029. PTHR21029. 1 hit.
PTHR21029:SF1. PTHR21029:SF1. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiR9BP_HUMAN
AccessioniPrimary (citable) accession number: Q6ZS82
Secondary accession number(s): Q6ZVJ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: July 5, 2004
Last modified: September 3, 2014
This is version 70 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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