ID   R9BP_HUMAN              Reviewed;         235 AA.
AC   Q6ZS82; Q6ZVJ6;
DT   15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   24-JAN-2024, entry version 119.
DE   RecName: Full=Regulator of G-protein signaling 9-binding protein;
DE   AltName: Full=RGS9-anchoring protein;
GN   Name=RGS9BP; Synonyms=R9AP;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-96.
RC   TISSUE=Cerebellum, and Kidney;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   INVOLVEMENT IN PERRS2.
RX   PubMed=14702087; DOI=10.1038/nature02170;
RA   Nishiguchi K.M., Sandberg M.A., Kooijman A.C., Martemyanov K.A.,
RA   Pott J.W.R., Hagstrom S.A., Arshavsky V.Y., Berson E.L., Dryja T.P.;
RT   "Defects in RGS9 or its anchor protein R9AP in patients with slow
RT   photoreceptor deactivation.";
RL   Nature 427:75-78(2004).
CC   -!- FUNCTION: Regulator of G protein-coupled receptor (GPCR) signaling in
CC       phototransduction. Participates in the recovery phase of visual
CC       transduction via its interaction with RGS9-1 isoform. Acts as a
CC       membrane-anchor that mediates the targeting of RGS9-1 to the
CC       photoreceptor outer segment, where phototransduction takes place.
CC       Enhances the ability of RGS9-1 to stimulate G protein GTPase activity,
CC       allowing the visual signal to be terminated on the physiologically time
CC       scale. It also controls the proteolytic stability of RGS9-1, probably
CC       by protecting it from degradation (By similarity). {ECO:0000250}.
CC   -!- SUBUNIT: Specifically interacts with isoform RGS9-1 of RGS9. Component
CC       of the RGS9-1-Gbeta5 complex composed of RGS9-1, Gbeta5 (GNB5) and
CC       RGS9BP (By similarity). {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type IV
CC       membrane protein {ECO:0000250}.
CC   -!- DISEASE: Prolonged electroretinal response suppression 2 (PERRS2)
CC       [MIM:620344]: A form of bradyopsia, an ocular disorder characterized by
CC       prolonged electroretinal response suppression leading to difficulties
CC       adjusting to changes in luminance, normal to subnormal acuity and
CC       photophobia. PERRS2 is an autosomal recessive form with onset in
CC       childhood. {ECO:0000269|PubMed:14702087}. Note=The disease is caused by
CC       variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the RGS7BP/RGS9BP family. {ECO:0000305}.
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DR   EMBL; AK124499; BAC85865.1; -; mRNA.
DR   EMBL; AK127646; BAC87072.1; -; mRNA.
DR   CCDS; CCDS12424.1; -.
DR   RefSeq; NP_997274.2; NM_207391.2.
DR   AlphaFoldDB; Q6ZS82; -.
DR   SMR; Q6ZS82; -.
DR   BioGRID; 132727; 48.
DR   STRING; 9606.ENSP00000334134; -.
DR   iPTMnet; Q6ZS82; -.
DR   PhosphoSitePlus; Q6ZS82; -.
DR   BioMuta; RGS9BP; -.
DR   DMDM; 74711357; -.
DR   EPD; Q6ZS82; -.
DR   MassIVE; Q6ZS82; -.
DR   PaxDb; 9606-ENSP00000334134; -.
DR   PeptideAtlas; Q6ZS82; -.
DR   ProteomicsDB; 68201; -.
DR   Antibodypedia; 55122; 31 antibodies from 10 providers.
DR   DNASU; 388531; -.
DR   Ensembl; ENST00000334176.4; ENSP00000334134.3; ENSG00000186326.4.
DR   GeneID; 388531; -.
DR   KEGG; hsa:388531; -.
DR   MANE-Select; ENST00000334176.4; ENSP00000334134.3; NM_207391.3; NP_997274.2.
DR   UCSC; uc002ntp.1; human.
DR   AGR; HGNC:30304; -.
DR   CTD; 388531; -.
DR   DisGeNET; 388531; -.
DR   GeneCards; RGS9BP; -.
DR   HGNC; HGNC:30304; RGS9BP.
DR   HPA; ENSG00000186326; Group enriched (choroid plexus, retina, skeletal muscle).
DR   MalaCards; RGS9BP; -.
DR   MIM; 607814; gene.
DR   MIM; 620344; phenotype.
DR   neXtProt; NX_Q6ZS82; -.
DR   OpenTargets; ENSG00000186326; -.
DR   Orphanet; 75374; Bradyopsia.
DR   PharmGKB; PA162401280; -.
DR   VEuPathDB; HostDB:ENSG00000186326; -.
DR   eggNOG; ENOG502QT8D; Eukaryota.
DR   GeneTree; ENSGT00940000153725; -.
DR   HOGENOM; CLU_093021_0_0_1; -.
DR   InParanoid; Q6ZS82; -.
DR   OMA; WMIEPLL; -.
DR   OrthoDB; 5387122at2759; -.
DR   PhylomeDB; Q6ZS82; -.
DR   TreeFam; TF331562; -.
DR   PathwayCommons; Q6ZS82; -.
DR   Reactome; R-HSA-2514859; Inactivation, recovery and regulation of the phototransduction cascade.
DR   SignaLink; Q6ZS82; -.
DR   BioGRID-ORCS; 388531; 9 hits in 1149 CRISPR screens.
DR   GenomeRNAi; 388531; -.
DR   Pharos; Q6ZS82; Tbio.
DR   PRO; PR:Q6ZS82; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q6ZS82; Protein.
DR   Bgee; ENSG00000186326; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 60 other cell types or tissues.
DR   GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR   GO; GO:0050908; P:detection of light stimulus involved in visual perception; IBA:GO_Central.
DR   GO; GO:0007186; P:G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR   GO; GO:0009968; P:negative regulation of signal transduction; IEA:UniProtKB-KW.
DR   InterPro; IPR026512; RGS7BP/RGS9BP.
DR   PANTHER; PTHR21029; R-SEVEN BINDING PROTEIN (R7BP) HOMOLOG; 1.
DR   PANTHER; PTHR21029:SF1; REGULATOR OF G-PROTEIN SIGNALING 9-BINDING PROTEIN; 1.
DR   Genevisible; Q6ZS82; HS.
PE   2: Evidence at transcript level;
KW   Coiled coil; Membrane; Reference proteome; Sensory transduction;
KW   Signal transduction inhibitor; Transmembrane; Transmembrane helix; Vision.
FT   CHAIN           1..235
FT                   /note="Regulator of G-protein signaling 9-binding protein"
FT                   /id="PRO_0000287586"
FT   TOPO_DOM        1..210
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        211..231
FT                   /note="Helical; Anchor for type IV membrane protein"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        232..235
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   REGION          153..200
FT                   /note="SNARE-like"
FT                   /evidence="ECO:0000250"
FT   COILED          29..54
FT                   /evidence="ECO:0000255"
FT   COILED          144..169
FT                   /evidence="ECO:0000255"
FT   VARIANT         96
FT                   /note="A -> S (in dbSNP:rs259290)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_032333"
SQ   SEQUENCE   235 AA;  25148 MW;  54A3CC6CBACAC014 CRC64;
     MAREECKALL DGLNKTTACY HHLVLTVGGS ADSQNLRQEL QKTRQKAQEL AVSTCARLTA
     VLRDRGLAAD ERAEFERLWV AFSGCLDLLE ADMRRALELG AAFPLHAPRR PLVRTGVAGA
     SSGVAARALS TRSLRLEAEG DFDVADLREL EREVLQVGEM IDNMEMKVNV PRWTVQARQA
     AGAELLSTVS AGPSSVVSLQ ERGGGCDPRK ALAAILFGAV LLAAVALAVC VAKLS
//