R9BP_HUMAN
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 03-AUG-2022, entry version 112.
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 PERRS.
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 (PERRS)
CC [MIM:608415]: Characterized by difficulty adjusting to sudden changes
CC in luminance levels mediated by cones. {ECO:0000269|PubMed:14702087}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the RGS7BP/RGS9BP family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
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; Q6ZS82; -.
DR PeptideAtlas; Q6ZS82; -.
DR PRIDE; Q6ZS82; -.
DR ProteomicsDB; 68201; -.
DR Antibodypedia; 55122; 25 antibodies from 9 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 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; 608415; 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; MINEMEM; -.
DR OrthoDB; 1602757at2759; -.
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 1067 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 hindlimb stylopod muscle and 59 other tissues.
DR Genevisible; Q6ZS82; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0001750; C:photoreceptor outer segment; 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 InterPro; IPR026513; RGS9BP.
DR PANTHER; PTHR21029; PTHR21029; 1.
DR PANTHER; PTHR21029:SF1; PTHR21029:SF1; 1.
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
