LOCUS       NM_003835               2492 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens regulator of G protein signaling 9 (RGS9), transcript
            variant 1, mRNA.
ACCESSION   NM_003835
VERSION     NM_003835.4
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 2492)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2492)
  AUTHORS   Khan,A.O.
  TITLE     The clinical presentation of bradyopsia in children
  JOURNAL   J AAPOS 21 (6), 507-509 (2017)
   PUBMED   29107794
  REMARK    GeneRIF: This case series highlights the clinical presentations and
            features of 5 affected children (3 Arab families) who harbored the
            same homozygous RGS9 frameshift mutation, which seems to represent
            a founder effect for the Arabian Peninsula.
REFERENCE   3  (bases 1 to 2492)
  AUTHORS   Zhu,Y.S., Li,Y.X., Qiao,X.M. and Zhang,H.B.
  TITLE     Regulators of G-protein signaling 9 genetic variations in Chinese
            subjects with schizophrenia
  JOURNAL   Genet Mol Res 14 (3), 8458-8465 (2015)
   PUBMED   26345773
  REMARK    GeneRIF: To identify single-nucleotide polymorphisms that
            contribute to the genetic susceptibility to schizophrenia, we
            examined the potential association between schizophrenia and 9
            single nucleotide polymorphisms in the G-protein signaling 9 gene
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2492)
  AUTHORS   Zhu,Y. and Zhang,H.
  TITLE     Evidence for the contribution of genetic variations in regulator of
            G protein signaling 9 to the genetic susceptibility of heroin
            dependence
  JOURNAL   Mol Med Rep 11 (5), 3908-3913 (2015)
   PUBMED   25591550
  REMARK    GeneRIF: These findings indicate a role for RGS9 gene polymorphisms
            in heroin dependence and may be informative for future genetic or
            biological studies on heroin dependence.
REFERENCE   5  (bases 1 to 2492)
  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   6  (bases 1 to 2492)
  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
REFERENCE   7  (bases 1 to 2492)
  AUTHORS   Yu,H., Bondarenko,V.A. and Yamazaki,A.
  TITLE     Inhibition of retinal guanylyl cyclase by the RGS9-1 N-terminus
  JOURNAL   Biochem Biophys Res Commun 286 (1), 12-19 (2001)
   PUBMED   11485301
REFERENCE   8  (bases 1 to 2492)
  AUTHORS   Zhang,K., Howes,K.A., He,W., Bronson,J.D., Pettenati,M.J., Chen,C.,
            Palczewski,K., Wensel,T.G. and Baehr,W.
  TITLE     Structure, alternative splicing, and expression of the human RGS9
            gene
  JOURNAL   Gene 240 (1), 23-34 (1999)
   PUBMED   10564809
REFERENCE   9  (bases 1 to 2492)
  AUTHORS   Granneman,J.G., Zhai,Y., Zhu,Z., Bannon,M.J., Burchett,S.A.,
            Schmidt,C.J., Andrade,R. and Cooper,J.
  TITLE     Molecular characterization of human and rat RGS 9L, a novel splice
            variant enriched in dopamine target regions, and chromosomal
            localization of the RGS 9 gene
  JOURNAL   Mol Pharmacol 54 (4), 687-694 (1998)
   PUBMED   9765512
REFERENCE   10 (bases 1 to 2492)
  AUTHORS   Cowan,C.W., Fariss,R.N., Sokal,I., Palczewski,K. and Wensel,T.G.
  TITLE     High expression levels in cones of RGS9, the predominant GTPase
            accelerating protein of rods
  JOURNAL   Proc Natl Acad Sci U S A 95 (9), 5351-5356 (1998)
   PUBMED   9560279
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC322215.1, AK289876.1,
            AF493933.1 and CK300804.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003835.3.
            
            Summary: This gene encodes a member of the RGS family of GTPase
            activating proteins that function in various signaling pathways by
            accelerating the deactivation of G proteins. This protein is
            anchored to photoreceptor membranes in retinal cells and
            deactivates G proteins in the rod and cone phototransduction
            cascades. Mutations in this gene result in bradyopsia. Multiple
            transcript variants encoding different isoforms have been found for
            this gene.[provided by RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.67464.1,
                                           SRR1803617.182860.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262406.10/ ENSP00000262406.9
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-104               DC322215.1         33-136
            105-481             AK289876.1         1-377
            482-482             AF493933.1         311-311
            483-2285            AK289876.1         379-2181
            2286-2492           CK300804.1         17-223              c
FEATURES             Location/Qualifiers
     source          1..2492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.1"
     gene            1..2492
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /note="regulator of G protein signaling 9"
                     /db_xref="GeneID:8787"
                     /db_xref="HGNC:HGNC:10004"
                     /db_xref="MIM:604067"
     exon            1..228
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     CDS             172..2196
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /note="isoform 1 is encoded by transcript variant 1;
                     regulator of G-protein signalling 9"
                     /codon_start=1
                     /product="regulator of G-protein signaling 9 isoform 1"
                     /protein_id="NP_003826.2"
                     /db_xref="CCDS:CCDS42373.1"
                     /db_xref="GeneID:8787"
                     /db_xref="HGNC:HGNC:10004"
                     /db_xref="MIM:604067"
                     /translation="MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVT
                     SVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYR
                     FQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIM
                     QAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKVNQ
                     KQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITD
                     DTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEA
                     CEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQ
                     THIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILR
                     QLEEEAKAREAANTVDITQPGQHMAPSPHLTVYTGTCMPPSPSSPFSSSCRSPRKPFA
                     SPSRFIRRPSTTICPSPIRVALESSSGLEQKGECSGSMAPRGPSVTESSEASLDTSWP
                     RSRPRAPPKARMALSFSRFLRRGCLASPVFARLSPKCPAVSHGRVQPLGDVGQQLPRL
                     KSKRVANFFQIKMDVPTGSGTCLMDSEDAGTGESGDRATEKEVICPWESL"
     exon            229..325
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            326..376
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            377..483
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            484..535
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            536..594
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            595..671
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            672..753
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            754..825
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            826..855
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            856..917
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1031
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1147
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1235
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1374
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..1460
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1578
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..2063
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     exon            2064..2492
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2463..2468
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /note="hexamer: AATAAA"
     polyA_site      2492
                     /gene="RGS9"
                     /gene_synonym="PERRS; PERRS1; RGS9L"
                     /note="major polyA site"
ORIGIN      
        1 agtcagcggc gcctagtgag agtcaggggg gcccggcccg cgccctcccc gcccagccgc
       61 ctccccgtcg acgcccaggg ctggggcgag ccaggctgcc tttcgaactt ggggggcttc
      121 tcctcttgtc tcccactggt gctctggctg tgaatccatc caggggccag gatgacaatc
      181 cgacaccaag gccagcagta caggccgagg atggcatttc tccaaaagat tgaagcgctc
      241 gtgaaggaca tgcagaaccc agagacaggg gtccgaatgc agaaccagag ggtcctggtc
      301 accagcgttc ctcatgccat gacaggaagt gatgttctgc aatggatcgt ccagcggctt
      361 tggatctcca gtctggaggc acagaacttg ggcaacttta ttgtcaggta tggctacatt
      421 taccccctgc aagaccccaa gaatctcatt ctcaagcctg atggcagcct ctacagattt
      481 cagacaccgt atttctggcc cacccagcag tggccagctg aagataccga ttacgccatc
      541 tatctggcca agcgaaatat caaaaagaaa gggattttgg aagaatatga aaaggaaaat
      601 tacaatttct tgaaccaaaa aatgaactat aagtgggact ttgtcattat gcaggccaaa
      661 gagcagtaca gggctggaaa ggagaggaac aaagcagaca gatatgccct ggactgccag
      721 gagaaggcat actggctggt gcaccgatgc cctcctggaa tggacaatgt gctggactac
      781 ggcctggacc gagtgaccaa tccgaatgaa gtcaaggtaa accagaaaca aacagtcgtt
      841 gctgtcaaaa aagagatcat gtattaccaa caggccttga tgaggtccac agtgaagtct
      901 tctgtgtccc tgggagggat tgtgaaatac agtgagcagt tctcatccaa cgatgccatc
      961 atgtcaggct gcctccccag caacccctgg atcaccgatg acacccagtt ctgggactta
     1021 aatgccaaat tggtggaaat cccaaccaag atgcgagtgg aacgatgggc cttcaacttc
     1081 agcgaattga tccgagaccc caaaggtcga cagagcttcc agtacttcct caagaaagaa
     1141 ttcagtggag agaatctggg attctgggaa gcctgcgagg atctgaagta tggagatcag
     1201 tccaaagtca aggagaaagc agaggagatt tacaagctgt tcctggcccc gggggcgagg
     1261 cgctggatca acatagatgg caaaaccatg gacatcacag tgaaggggct gaagcacccc
     1321 caccgctatg tgctggacgc cgcacaaacc cacatttaca tgctcatgaa gaaggattct
     1381 tatgctcgct atttaaaatc tccgatctat aaggacatgc tggccaaagc tattgaacct
     1441 caggaaacca ccaagaaaag ctccaccctc ccttttatgc ggcgtcacct gcgctccagc
     1501 ccaagccctg tcatcctgag acagctggaa gaggaagcca aggcccgaga agcagccaac
     1561 actgtggaca tcacccagcc gggccagcac atggctccca gcccccatct gaccgtgtac
     1621 accgggacct gcatgccccc gtctccttct agccccttct cctcctcctg ccgctccccc
     1681 aggaagcctt tcgcctcacc cagccgcttc atccggcgac ccagcaccac catctgcccc
     1741 tcacccatca gagtggcctt ggagagctca tcgggcttgg agcagaaagg ggagtgcagc
     1801 gggtccatgg ccccccgtgg gccctctgtc accgagagca gcgaggcctc cctcgacacc
     1861 tcctggcctc gcagccggcc cagggcccct cctaaggccc gcatggctct gtccttcagc
     1921 aggtttctga gacgaggctg tctggcctca cctgtctttg ccaggctctc acccaagtgc
     1981 cctgctgtgt cccacgggag ggtgcagccc ctgggggacg tgggccagca gctgccacga
     2041 ttgaaatcca agagagtagc aaactttttc cagatcaaaa tggatgtgcc cacggggagc
     2101 gggacctgct tgatggactc ggaggatgct ggaacaggag agtcgggtga ccgggccaca
     2161 gaaaaggagg tcatctgccc ctgggagagc ctgtaaggaa agaggcaggc tgagctgggg
     2221 gctctggacc aggaagatgc tctgacagat gccatggtat gggccacagg acacacttgc
     2281 tcgagaacca aagtgcattt gggtgacatt tgaagattgg ggagacaaga tggggtagat
     2341 tgtggcaaag aatgctctgg ctggttacca ggggccaact ccttctcctc ttcctgaccc
     2401 tccctcccct gggcagaaga aacgcatgtg gaccagaaga ctttccctgc tgccttaaaa
     2461 ccaataaaag gttaacttta agtttcttgg aa
//
