LOCUS       NM_207391               2453 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens regulator of G protein signaling 9 binding protein
            (RGS9BP), mRNA.
ACCESSION   NM_207391
VERSION     NM_207391.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2453)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
REFERENCE   2  (bases 1 to 2453)
  AUTHORS   Michaelides,M., Li,Z., Rana,N.A., Richardson,E.C., Hykin,P.G.,
            Moore,A.T., Holder,G.E. and Webster,A.R.
  TITLE     Novel mutations and electrophysiologic findings in RGS9- and
            R9AP-associated retinal dysfunction (Bradyopsia)
  JOURNAL   Ophthalmology 117 (1), 120-127 (2010)
   PUBMED   19818506
  REMARK    GeneRIF: This is the first report describing a nonsense mutation in
            RGS9.
REFERENCE   3  (bases 1 to 2453)
  AUTHORS   McGeachie,M., Ramoni,R.L., Mychaleckyj,J.C., Furie,K.L.,
            Dreyfuss,J.M., Liu,Y., Herrington,D., Guo,X., Lima,J.A., Post,W.,
            Rotter,J.I., Rich,S., Sale,M. and Ramoni,M.F.
  TITLE     Integrative predictive model of coronary artery calcification in
            atherosclerosis
  JOURNAL   Circulation 120 (24), 2448-2454 (2009)
   PUBMED   19948975
  REMARK    GeneRIF: Observational study of gene-disease association, gene-gene
            interaction, gene-environment interaction, and genetic testing.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 2453)
  AUTHORS   Stockman,A., Smithson,H.E., Webster,A.R., Holder,G.E., Rana,N.A.,
            Ripamonti,C. and Sharpe,L.T.
  TITLE     The loss of the PDE6 deactivating enzyme, RGS9, results in
            precocious light adaptation at low light levels
  JOURNAL   J Vis 8 (1), 10.1-1010 (2008)
   PUBMED   18318613
  REMARK    GeneRIF: As the light level is increased and the PDE6*
            concentration in the normal rises relative to that in the observer
            lacking RGS9-1, the temporal advantage of the latter is soon lost,
            leaving only the deficit due to delayed deactivation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2453)
  AUTHORS   Cheng,J.Y., Luu,C.D., Yong,V.H., Mathur,R., Aung,T. and
            Vithana,E.N.
  TITLE     Bradyopsia in an Asian man
  JOURNAL   Arch Ophthalmol 125 (8), 1138-1140 (2007)
   PUBMED   17698770
  REMARK    GeneRIF: homozygous mutations in R9AP gene that encodes the
            photoreceptor GTPase accelerating protein and its anchor protein,
            respectively, have been identifird in patients with bradyopsia.
REFERENCE   6  (bases 1 to 2453)
  AUTHORS   Nishiguchi,K.M., Sandberg,M.A., Kooijman,A.C., Martemyanov,K.A.,
            Pott,J.W., Hagstrom,S.A., Arshavsky,V.Y., Berson,E.L. and
            Dryja,T.P.
  TITLE     Defects in RGS9 or its anchor protein R9AP in patients with slow
            photoreceptor deactivation
  JOURNAL   Nature 427 (6969), 75-78 (2004)
   PUBMED   14702087
  REMARK    GeneRIF: five unrelated patients with recessive mutations in the
            genes encoding either RGS9 or R9AP who report difficulty adapting
            to sudden changes in luminance levels mediated by cones
REFERENCE   7  (bases 1 to 2453)
  AUTHORS   Hu,G., Zhang,Z. and Wensel,T.G.
  TITLE     Activation of RGS9-1GTPase acceleration by its membrane anchor,
            R9AP
  JOURNAL   J Biol Chem 278 (16), 14550-14554 (2003)
   PUBMED   12560335
REFERENCE   8  (bases 1 to 2453)
  AUTHORS   Hu,G. and Wensel,T.G.
  TITLE     R9AP, a membrane anchor for the photoreceptor GTPase accelerating
            protein, RGS9-1
  JOURNAL   Proc Natl Acad Sci U S A 99 (15), 9755-9760 (2002)
   PUBMED   12119397
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008474.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_207391.2.
            
            Summary: The protein encoded by this gene functions as a regulator
            of G protein-coupled receptor signaling in phototransduction.
            Studies in bovine and mouse show that this gene is expressed only
            in the retina, and is localized in the rod outer segment membranes.
            This protein is associated with a heterotetrameric complex,
            specifically interacting with the regulator of G-protein signaling
            9, and appears to function as the membrane anchor for the other
            largely soluble interacting partners. Mutations in this gene are
            associated with prolonged electroretinal response suppression
            (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010].
            
            ##Evidence-Data-START##
            Transcript is intronless :: AK127646.1, ERR279851.285.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334176.4/ ENSP00000334134.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2453              AC008474.9         181098-183550
FEATURES             Location/Qualifiers
     source          1..2453
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..2453
                     /gene="RGS9BP"
                     /gene_synonym="PERRS; PERRS2; R9AP; RGS9"
                     /note="regulator of G protein signaling 9 binding protein"
                     /db_xref="GeneID:388531"
                     /db_xref="HGNC:HGNC:30304"
                     /db_xref="MIM:607814"
     exon            1..2453
                     /gene="RGS9BP"
                     /gene_synonym="PERRS; PERRS2; R9AP; RGS9"
                     /inference="alignment:Splign:2.1.0"
     CDS             417..1124
                     /gene="RGS9BP"
                     /gene_synonym="PERRS; PERRS2; R9AP; RGS9"
                     /note="RGS9 anchor protein; RGS9-anchoring protein"
                     /codon_start=1
                     /product="regulator of G-protein signaling 9-binding
                     protein"
                     /protein_id="NP_997274.2"
                     /db_xref="CCDS:CCDS12424.1"
                     /db_xref="GeneID:388531"
                     /db_xref="HGNC:HGNC:30304"
                     /db_xref="MIM:607814"
                     /translation="MAREECKALLDGLNKTTACYHHLVLTVGGSADSQNLRQELQKTR
                     QKAQELAVSTCARLTAVLRDRGLAADERAEFERLWVAFSGCLDLLEADMRRALELGAA
                     FPLHAPRRPLVRTGVAGASSGVAARALSTRSLRLEAEGDFDVADLRELEREVLQVGEM
                     IDNMEMKVNVPRWTVQARQAAGAELLSTVSAGPSSVVSLQERGGGCDPRKALAAILFG
                     AVLLAAVALAVCVAKLS"
     regulatory      2304..2309
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS9BP"
                     /gene_synonym="PERRS; PERRS2; R9AP; RGS9"
                     /note="hexamer: AATAAA"
     polyA_site      2332
                     /gene="RGS9BP"
                     /gene_synonym="PERRS; PERRS2; R9AP; RGS9"
                     /note="major polyA site"
ORIGIN      
        1 ctacccggcc gcccttggca gcgcctaagg cggagcgcgc ggctctgcag cctgcttgcc
       61 ccggagttgg cacccacgga ggatggggac cgcaccctca gcttcgcagg gagccaccgt
      121 ggaggccagg gcggtgcaga gacacgacgt gtgactcgga gtgcgcctgg ggaggatgga
      181 cgagggagcg ggggaccgct aacggggctc cctctgcgcg ccccgtccgc agaggcgcac
      241 gtcgagggtc ccgggcgggc tccgtggacg ttggcggtag cgccgagcga gtcacggacc
      301 atgaagagcg ttcgtgccgc gcggcccaag gccgggatgg gggttagcca catcctgccg
      361 cgctgagggg gaggctaacg ggcgcgggcg gccgggccca gccggagccc accgcgatgg
      421 cgagggagga gtgcaaggcg ctgctggacg ggctcaacaa gacgactgcg tgctaccacc
      481 acctggtgct gaccgtcggt ggctcggcgg actcgcagaa cctgcggcag gagctgcaaa
      541 agacgcgcca gaaggcgcag gagctggcgg tgtccacctg cgcccggctg actgctgtgc
      601 tgcgcgaccg gggcctggcc gccgacgagc gcgccgagtt cgagcggctc tgggtggcct
      661 tctcgggctg cctggacctg ctggaagcgg acatgcgacg cgcgctggag ctgggcgccg
      721 cgttcccgct gcacgcgccg cggcggccgc tggtgcgcac aggtgtggct ggcgcctcct
      781 ccggcgtggc ggcgcgcgcg ctgagcaccc gcagcctgcg gctcgaggcg gagggcgact
      841 tcgacgtcgc ggacctgcgg gagctggagc gcgaggtcct tcaggtgggc gagatgatcg
      901 acaacatgga gatgaaggtc aacgtgcccc gctggaccgt gcaagcccgg caggcggcgg
      961 gcgccgagct cctgtccacg gtcagcgccg gcccctcctc ggtcgtgtcc ttgcaggagc
     1021 gcgggggggg ttgcgacccc aggaaggccc tggccgccat ccttttcggc gccgtgctgc
     1081 tggcggctgt ggccctagcc gtgtgcgtgg cgaagctgag ctgacggaca cccgacggcc
     1141 gcctgctgct gccgctccct cccctgagaa aagactcggg atgggtgtgg ggtctggcct
     1201 gtgcaagggg agtggtccta aaaccccgtg tgtgcatggg tacacgcgcg tttccagtgc
     1261 acatctgcct gggcaggaca cggtttcctc ttgctggccc gggaggagtt aactttgcgc
     1321 cggccgtcag ggcattaccg ctaacgtctg caggagcttt attccctatt aatagaaaac
     1381 cgtcacagtg accctagatc cctccgagtt aatgagttaa cacatgtgct gttggggcgt
     1441 ctttacaggg agtccgagtt cggtgcccac ccctgccagc gtcgccccct ttctgcgtgg
     1501 gacagtttga aaaggtgggt ggggtggagt gaagtttgga gagggacgct gtttggttct
     1561 atgtggttgg tctgtttccc ggacaagaaa aattgcaatc aaatgtcagc agcttttatt
     1621 accttaatct ttcagggcct aaatttagga gagtgtcccg agagcagttc atacaaaggg
     1681 ctttctctaa gacgcgctac agcccttcct agcagagttt atccattcgt ccccaagagc
     1741 agctagaaga gatttgaggt catgacctcc cactgccgct caggggctga ccctatttag
     1801 gaaaccaaag agggtgggtt gaacctactc tcacggactt ggatccagtg cgcacacttg
     1861 cctgcggaaa agggctctcc ccagccaccc ggagatgggg gtaagaggaa gagcagaggc
     1921 ttggggtagg gccacctggt gtttaaacag gcactttctc cttctctggg gcttattttt
     1981 gttcagaact agaccagagt gtttgaacct cctttgcagg agggctggga atcctcttta
     2041 gagcacttaa tcctatttat cccctggaat gtgcgtgctg gccagtagga gggctggctt
     2101 tggcagctcc ctgacccccg cgctgcccgc ccctccgggg taatgtggca ttactggccc
     2161 acagaggttt tgagccaatc agctctgaga ctgggttaga atgtaacagc tttaacttgg
     2221 gatttaagaa gcttttaaaa ggtaataata ctctgaaaga aaaatgacgt aaccacagcg
     2281 tgtactatga aagctgttat tttaataaag aacgctgggc catgaactca tacctgccaa
     2341 tgagtcaaac atagtatctt tatgtagata cttagattac taaatatata tttcatctac
     2401 ttctgaagtt gatagtcttc cccccccccc acttttttct tttttgagac agg
//
