LOCUS       NM_203288               1135 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens RP9 pre-mRNA splicing factor (RP9), mRNA.
ACCESSION   NM_203288 XM_166563
VERSION     NM_203288.2
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 1135)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1135)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   3  (bases 1 to 1135)
  AUTHORS   Swaminathan,S., Huentelman,M.J., Corneveaux,J.J., Myers,A.J.,
            Faber,K.M., Foroud,T., Mayeux,R., Shen,L., Kim,S., Turk,M.,
            Hardy,J., Reiman,E.M. and Saykin,A.J.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative  and  NIA-LOAD/NCRAD
            Family Study Group
  TITLE     Analysis of copy number variation in Alzheimer's disease in a
            cohort of clinically characterized and neuropathologically verified
            individuals
  JOURNAL   PLoS One 7 (12), e50640 (2012)
   PUBMED   23227193
REFERENCE   4  (bases 1 to 1135)
  AUTHORS   Booij,J.C., Bakker,A., Kulumbetova,J., Moutaoukil,Y., Smeets,B.,
            Verheij,J., Kroes,H.Y., Klaver,C.C., van Schooneveld,M.,
            Bergen,A.A. and Florijn,R.J.
  TITLE     Simultaneous mutation detection in 90 retinal disease genes in
            multiple patients using a custom-designed 300-kb retinal
            resequencing chip
  JOURNAL   Ophthalmology 118 (1), 160-167 (2011)
   PUBMED   20801516
  REMARK    GeneRIF: Observational study of genetic testing. (HuGE Navigator)
REFERENCE   5  (bases 1 to 1135)
  AUTHORS   Bischof,J.M., Chiang,A.P., Scheetz,T.E., Stone,E.M., Casavant,T.L.,
            Sheffield,V.C. and Braun,T.A.
  TITLE     Genome-wide identification of pseudogenes capable of
            disease-causing gene conversion
  JOURNAL   Hum Mutat 27 (6), 545-552 (2006)
   PUBMED   16671097
REFERENCE   6  (bases 1 to 1135)
  AUTHORS   Keen,T.J., Hims,M.M., McKie,A.B., Moore,A.T., Doran,R.M.,
            Mackey,D.A., Mansfield,D.C., Mueller,R.F., Bhattacharya,S.S.,
            Bird,A.C., Markham,A.F. and Inglehearn,C.F.
  TITLE     Mutations in a protein target of the Pim-1 kinase associated with
            the RP9 form of autosomal dominant retinitis pigmentosa
  JOURNAL   Eur J Hum Genet 10 (4), 245-249 (2002)
   PUBMED   12032732
  REMARK    GeneRIF: Mutations in a protein target of the Pim-1 kinase
            associated with the RP9 form of autosomal dominant retinitis
            pigmentosa
REFERENCE   7  (bases 1 to 1135)
  AUTHORS   Maita,H., Harada,Y., Nagakubo,D., Kitaura,H., Ikeda,M., Tamai,K.,
            Takahashi,K., Ariga,H. and Iguchi-Ariga,S.M.
  TITLE     PAP-1, a novel target protein of phosphorylation by pim-1 kinase
  JOURNAL   Eur J Biochem 267 (16), 5168-5178 (2000)
   PUBMED   10931201
REFERENCE   8  (bases 1 to 1135)
  AUTHORS   Inglehearn,C., Keen,T.J., al-Maghtheh,M. and Bhattacharya,S.
  TITLE     Loci for autosomal dominant retinitis pigmentosa and dominant
            cystoid macular dystrophy on chromosome 7p are not allelic
  JOURNAL   Am J Hum Genet 55 (3), 581-582 (1994)
   PUBMED   8079997
REFERENCE   9  (bases 1 to 1135)
  AUTHORS   Inglehearn,C.F., Carter,S.A., Keen,T.J., Lindsey,J.,
            Stephenson,A.M., Bashir,R., al-Maghtheh,M., Moore,A.T., Jay,M.,
            Bird,A.C. et al.
  TITLE     A new locus for autosomal dominant retinitis pigmentosa on
            chromosome 7p
  JOURNAL   Nat Genet 4 (1), 51-53 (1993)
   PUBMED   8513323
REFERENCE   10 (bases 1 to 1135)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC074338.1 and BC025928.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_203288.1.
            
            Summary: The protein encoded by this gene can be bound and
            phosphorylated by the protooncogene PIM1 product, a
            serine/threonine protein kinase . This protein localizes in nuclear
            speckles containing the splicing factors, and has a role in
            pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of
            CBF1, can also bind to this protein and effects alternative
            splicing. Mutations in this gene result in autosomal dominant
            retinitis pigmentosa-9. This gene has a pseudogene (GeneID:
            441212), which is located in tandem array approximately 166 kb
            distal to 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 :: BC025928.1, SRR1163657.507894.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297157.8/ ENSP00000297157.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC074338.1         74982-74995         c
            15-1135             BC025928.1         1-1121
FEATURES             Location/Qualifiers
     source          1..1135
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..1135
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /note="RP9 pre-mRNA splicing factor"
                     /db_xref="GeneID:6100"
                     /db_xref="HGNC:HGNC:10288"
                     /db_xref="MIM:607331"
     exon            1..184
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..698
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /note="Pim-1 kinase associated protein; pim-1-associated
                     protein; retinitis pigmentosa 9 (autosomal dominant)"
                     /codon_start=1
                     /product="retinitis pigmentosa 9 protein"
                     /protein_id="NP_976033.1"
                     /db_xref="CCDS:CCDS5440.1"
                     /db_xref="GeneID:6100"
                     /db_xref="HGNC:HGNC:10288"
                     /db_xref="MIM:607331"
                     /translation="MSSRPGREDVGAAGARRPREPPEQELQRRREQKRRRHDAQQLQQ
                     LKHLESFYEKPPPGLIKEDETKPEDCIPDVPGNEHAREFLAHAPTKGLWMPLGKEVKV
                     MQCWRCKRYGHRTGDKECPFFIKGNQKLEQFRVAHEDPMYDIIRDNKRHEKDVRIQQL
                     KQLLEDSTSDEDRSSSSSSEGKEKHKKKKKKEKHKKRKKEKKKKKKRKHKSSKSNEGS
                     DSE"
     exon            185..215
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            216..345
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            346..437
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            438..499
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            500..1135
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1108..1113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /note="hexamer: AATAAA"
     polyA_site      1135
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /note="major polyA site"
ORIGIN      
        1 ggggttgccc gagcggcgct gcgggggctg acatgtcgtc ccggcctggg cgcgaggacg
       61 tgggggctgc gggcgcgcgg cggccgcgtg agccgccgga gcaggagctg cagcgacgtc
      121 gggagcagaa gcggcggcga cacgacgcgc agcagctgca gcagctcaag cacctggagt
      181 ccttttacga aaaacctcct cctgggctta tcaaggaaga tgagactaag ccagaagatt
      241 gcataccaga tgtaccaggc aatgaacacg ccagggaatt tctggctcat gcaccaacta
      301 aaggactttg gatgccactg gggaaagaag tcaaagttat gcagtgttgg cgttgcaaac
      361 gctatggtca ccgaacgggt gacaaagaat gccctttctt tatcaaaggc aaccaaaagt
      421 tagagcagtt cagagtggca catgaagatc ccatgtatga catcatacga gacaataaac
      481 gacatgaaaa ggacgtaagg atacagcagt taaaacagtt actggaggat tctacctcag
      541 atgaagatag gagcagctcc agttcctctg aaggtaaaga gaaacacaag aaaaagaaga
      601 agaaagaaaa gcataagaaa aggaagaaag aaaagaaaaa gaagaaaaaa cggaagcaca
      661 aatcttccaa gtcaaatgag ggttctgact cagagtgaca aggatgtgac ttgttcaaca
      721 ttctcttctc aaacactgac caaggaacag aggaagatgc agtcagagaa agcagcagga
      781 tagagacgcc gagagaggag tatatgtggg tcacagcagt gagctcccac ccgccttgca
      841 gtgaagatgt gaccccagga gagggagtgt ctccttccag gtgctagctc tggacagcag
      901 ctgattttag gcaggaaagt ttcttcatcg ttgtcctccc tgctggtcac atgagtttac
      961 gattcctttg aagtgtctcc cacagggtgg caggactggg agaatctctg aggcgtgtct
     1021 tccaggccct cccacagctt gtgccctcca cagtgtggac tcaggtccca tagacatcag
     1081 gctggagtct tctctgttgt tgagaataat aaaagctcat tatttatttt ttaaa
//
