LOCUS       NP_976033                221 aa            linear   PRI 28-APR-2025
DEFINITION  retinitis pigmentosa 9 protein [Homo sapiens].
ACCESSION   NP_976033 XP_166563
VERSION     NP_976033.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 221)
  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  (residues 1 to 221)
  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  (residues 1 to 221)
  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  (residues 1 to 221)
  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  (residues 1 to 221)
  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  (residues 1 to 221)
  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  (residues 1 to 221)
  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  (residues 1 to 221)
  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  (residues 1 to 221)
  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 (residues 1 to 221)
  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 Mar 23, 2004 this sequence version replaced XP_166563.3.
            
            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##
FEATURES             Location/Qualifiers
     source          1..221
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     Protein         1..221
                     /product="retinitis pigmentosa 9 protein"
                     /note="Pim-1 kinase associated protein; pim-1-associated
                     protein; retinitis pigmentosa 9 (autosomal dominant)"
                     /calculated_mol_wt=25976
     Region          1..155
                     /region_name="PIM1-binding. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TA86.2)"
     Region          1..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TA86.2)"
     Region          147..221
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TA86.2)"
     Site            212
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PIM1.
                     /evidence=ECO:0000250|UniProtKB:P97762; propagated from
                     UniProtKB/Swiss-Prot (Q8TA86.2)"
     Site            214
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by PIM1.
                     /evidence=ECO:0000250|UniProtKB:P97762; propagated from
                     UniProtKB/Swiss-Prot (Q8TA86.2)"
     CDS             1..221
                     /gene="RP9"
                     /gene_synonym="PAP-1; PAP1"
                     /coded_by="NM_203288.2:33..698"
                     /db_xref="CCDS:CCDS5440.1"
                     /db_xref="GeneID:6100"
                     /db_xref="HGNC:HGNC:10288"
                     /db_xref="MIM:607331"
ORIGIN      
        1 mssrpgredv gaagarrpre ppeqelqrrr eqkrrrhdaq qlqqlkhles fyekpppgli
       61 kedetkpedc ipdvpgneha reflahaptk glwmplgkev kvmqcwrckr yghrtgdkec
      121 pffikgnqkl eqfrvahedp mydiirdnkr hekdvriqql kqlledstsd edrsssssse
      181 gkekhkkkkk kekhkkrkke kkkkkkrkhk ssksnegsds e
//
