LOCUS       NM_133471               3349 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens protein phosphatase 1 regulatory subunit 18 (PPP1R18),
            transcript variant 1, mRNA.
ACCESSION   NM_133471 XM_929867 XM_936086 XM_936160 XM_936203 XM_941654
VERSION     NM_133471.4
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 3349)
  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 3349)
  AUTHORS   Lin,Y.S., Huang,K.Y., Yu,H.C., Lu,M.C., Fan,C.J., Huang Tseng,H.Y.,
            Jhuang,B.Y., Liu,S.Q., Lai,N.S., Lin,T.H. and Huang,H.B.
  TITLE     Identification of phostensin in association with Eps 15 homology
            domain-containing protein 1 (EHD1) and EHD4
  JOURNAL   Biochem Biophys Res Commun 531 (2), 236-241 (2020)
   PUBMED   32800345
  REMARK    GeneRIF: Identification of phostensin in association with Eps 15
            homology domain-containing protein 1 (EHD1) and EHD4.
REFERENCE   3  (bases 1 to 3349)
  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   4  (bases 1 to 3349)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3349)
  AUTHORS   Matsubara,T., Kokabu,S., Nakatomi,C., Kinbara,M., Maeda,T.,
            Yoshizawa,M., Yasuda,H., Takano-Yamamoto,T., Baron,R. and Jimi,E.
  TITLE     The Actin-Binding Protein PPP1r18 Regulates Maturation, Actin
            Organization, and Bone Resorption Activity of Osteoclasts
  JOURNAL   Mol Cell Biol 38 (4), e00425-17 (2018)
   PUBMED   29158294
  REMARK    GeneRIF: Authors identified an actin-regulatory protein, protein
            phosphatase 1 regulatory subunit 18 (PPP1r18), as an Src-binding
            protein in an Src-, Yes-, and Fyn-deficient fibroblast (SYF) cell
            line overexpressing a constitutively active form of Src. PPP1r18
            was localized in the nucleus and actin ring.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3349)
  AUTHORS   Lai,N.S., Wang,T.F., Wang,S.L., Chen,C.Y., Yen,J.Y., Huang,H.L.,
            Li,C., Huang,K.Y., Liu,S.Q., Lin,T.H. and Huang,H.B.
  TITLE     Phostensin caps to the pointed end of actin filaments and modulates
            actin dynamics
  JOURNAL   Biochem Biophys Res Commun 387 (4), 676-681 (2009)
   PUBMED   19622346
  REMARK    GeneRIF: phostensin is an actin filament pointed end-capping
            protein that is capable of modulating actin dynamics.
REFERENCE   7  (bases 1 to 3349)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3349)
  AUTHORS   Kao,S.C., Chen,C.Y., Wang,S.L., Yang,J.J., Hung,W.C., Chen,Y.C.,
            Lai,N.S., Liu,H.T., Huang,H.L., Chen,H.C., Lin,T.H. and Huang,H.B.
  TITLE     Identification of phostensin, a PP1 F-actin cytoskeleton targeting
            subunit
  JOURNAL   Biochem Biophys Res Commun 356 (3), 594-598 (2007)
   PUBMED   17374523
  REMARK    GeneRIF: our data shows that phostensin targets PP1 to F-actin
            cytoskeleton.
REFERENCE   9  (bases 1 to 3349)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   10 (bases 1 to 3349)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB075829.1 and BC006176.1.
            
            On Nov 22, 2018 this sequence version replaced NM_133471.3.
            
            Summary: Protein phosphatase-1 (PP1; see MIM 176875) interacts with
            regulatory subunits that target the enzyme to different cellular
            locations and change its activity toward specific substrates.
            Phostensin is a regulatory subunit that targets PP1 to F-actin (see
            MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed
            17374523]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents a longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: BC066644.1, AB075829.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2163105
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274853.8/ ENSP00000274853.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3347              AB075829.1         669-4015
            3348-3349           BC006176.1         1406-1407
FEATURES             Location/Qualifiers
     source          1..3349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..3349
                     /gene="PPP1R18"
                     /gene_synonym="HKMT1098; KIAA1949"
                     /note="protein phosphatase 1 regulatory subunit 18"
                     /db_xref="GeneID:170954"
                     /db_xref="HGNC:HGNC:29413"
                     /db_xref="MIM:610990"
     exon            1..2238
                     /gene="PPP1R18"
                     /gene_synonym="HKMT1098; KIAA1949"
                     /inference="alignment:Splign:2.1.0"
     CDS             628..2469
                     /gene="PPP1R18"
                     /gene_synonym="HKMT1098; KIAA1949"
                     /note="protein phosphatase 1 F-actin cytoskeleton
                     targeting subunit"
                     /codon_start=1
                     /product="phostensin"
                     /protein_id="NP_597728.1"
                     /db_xref="CCDS:CCDS43444.1"
                     /db_xref="GeneID:170954"
                     /db_xref="HGNC:HGNC:29413"
                     /db_xref="MIM:610990"
                     /translation="MATIPDWKLQLLARRRQEEASVRGREKAERERLSQMPAWKRGLL
                     ERRRAKLGLSPGEPSPVLGTVEAGPPDPDESAVLLEAIGPVHQNRFIRQERQQQQQQQ
                     QRSEELLAERKPGPLEARERRPSPGEMRDQSPKGRESREERLSPRETRERRLGIGGAQ
                     ELSLRPLEARDWRQSPGEVGDRSSRLSEAWKWRLSPGETPERSLRLAESREQSPRRKE
                     VESRLSPGESAYQKLGLTEAHKWRPDSRESQEQSLVQLEATEWRLRSGEERQDYSEEC
                     GRKEEWPVPGVAPKETAELSETLTREAQGNSSAGVEAAEQRPVEDGERGMKPTEGWKW
                     TLNSGKAREWTPRDIEAQTQKPEPPESAEKLLESPGVEAGEGEAEKEEAGAQGRPLRA
                     LQNCCSVPSPLPPEDAGTGGLRQQEEEAVELQPPPPAPLSPPPPAPTAPQPPGDPLMS
                     RLFYGVKAGPGVGAPRRSGHTFTVNPRRSVPPATPATPTSPATVDAAVPGAGKKRYPT
                     AEEILVLGGYLRLSRSCLAKGSPERHHKQLKISFSETALETTYQYPSESSVLEELGPE
                     PEVPSAPNPPAAQPDDEEDEEELLLLQPELQGGLRTKALIVDESCRR"
     exon            2239..2449
                     /gene="PPP1R18"
                     /gene_synonym="HKMT1098; KIAA1949"
                     /inference="alignment:Splign:2.1.0"
     exon            2450..3349
                     /gene="PPP1R18"
                     /gene_synonym="HKMT1098; KIAA1949"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3328..3333
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP1R18"
                     /gene_synonym="HKMT1098; KIAA1949"
                     /note="hexamer: AATAAA"
     polyA_site      3349
                     /gene="PPP1R18"
                     /gene_synonym="HKMT1098; KIAA1949"
                     /note="major polyA site"
ORIGIN      
        1 gcgctgagac gcgcccggct gctgccgccg ccctcctttc ccctcttccc tggtttccct
       61 tctcctctag acctgttcgc tctccgcccc tccttgcctc cccaacaccc cctcaggtcc
      121 cgttgcctcc tggtcctttc agggattcct ggtccttcct tcccacacta gcctccctgg
      181 ggtatcgctg aggcagcctg gcctgcaccc aggttcccct cacccctgcc acatttctct
      241 cttctccctc acgccaactt tccttttcgc ccttctctct ctttctcaca tcctagagac
      301 ggtctttaat acgcattaac cctgtgctgc cacatctggc tcctgccctc attgcctcca
      361 atccggactc ttcctctcac atcaccccca ccacccccaa cttgggctca caacttctct
      421 tcactttttc catttcccca gttctctgcc ttccgtcttt ccctctgtcc tcatccttag
      481 cccctctgcc ctgctttgtg tcccacctct ccccctccac ttcctctcct cccaccctca
      541 gtctcacccc cgggctgtct cactctctgg agcctctcct tcctgttctc tgtccccagt
      601 gctccctacc ctcacctcaa gacgaccatg gccaccatcc cagactggaa gctacagctg
      661 ctagcccggc gccggcagga ggaggcgtcc gttcgaggcc gagagaaagc agaacgggag
      721 cgcctgtccc agatgccagc ctggaaacga gggctcctgg agcgccgccg ggccaagctt
      781 gggctgtccc ctggggagcc tagccctgtg ctagggactg tagaggctgg acctccagac
      841 ccggatgagt ctgcggtcct tctggaggcc atcgggccag tgcaccagaa ccgattcatc
      901 cggcaggagc ggcagcagca gcagcagcaa caacaacgga gtgaagagct gctagcagag
      961 agaaagcctg ggcctctgga ggcccgggag cggagaccca gccctgggga gatgcgggat
     1021 cagagcccca agggaagaga gtcaagagaa gagagactaa gtccgaggga gaccagagag
     1081 aggaggctgg ggataggggg agcccaagag ttgagcctga ggcctctgga ggctcgggac
     1141 tggaggcaaa gcccaggaga ggtgggagac aggagctccc gactgtcaga ggcatggaaa
     1201 tggaggctga gtcctggaga aactccagag cggagtctga gactagcaga gtctcgagag
     1261 caaagcccca ggagaaaaga ggtggaaagt agactgagcc caggggaatc tgcctaccag
     1321 aagttgggcc tgacagaggc ccataaatgg agacctgact ccagagagtc tcaggaacag
     1381 agtttggtac aactggaggc aacagagtgg aggctgaggt caggagaaga aagacaagac
     1441 tactcggaag aatgtgggag aaaagaagag tggccagttc caggggtagc tccaaaagag
     1501 actgcagagc tgtccgagac cctgacaagg gaggcccaag gcaacagttc cgcaggagtg
     1561 gaggcagcag agcagaggcc tgtggaagat ggcgagaggg gcatgaagcc aacagaaggg
     1621 tggaaatgga ccctgaactc cgggaaggct cgagaatgga cacccaggga catagaggct
     1681 caaactcaga aaccagaacc tccagagtca gcagagaagc ttctggaatc tcccggtgtg
     1741 gaggctggag aaggggaggc tgagaaggag gaggcggggg ctcagggcag gcctctgaga
     1801 gccctgcaga actgctgctc tgtgccctcc cccctcccac cagaggacgc tgggactgga
     1861 ggcctgagac agcaggaaga ggaagcagtg gagctccagc ccccaccacc agcccctctg
     1921 tctcccccac ccccagcccc aactgccccc caacctcctg gggatcccct catgagccgc
     1981 ctgttctatg gggtgaaggc agggccaggg gtgggggccc cccgccgcag tggacacacc
     2041 ttcaccgtca acccccggcg gtctgtgccc cctgcgaccc cagccacccc aacctctcca
     2101 gccacagttg atgctgcagt cccgggggct gggaagaagc ggtacccaac tgccgaggag
     2161 atcttggttc tggggggcta cctccgtctc agccgcagct gccttgccaa ggggtccccc
     2221 gaaagacacc acaaacagct taagatctcc ttcagcgaga cagccctgga gaccacgtac
     2281 caatacccct ccgagagttc ggtactggag gagctgggcc cggagcctga ggtccccagt
     2341 gcccccaacc ctccagcagc ccaacccgac gacgaagagg atgaggaaga gctgctgctg
     2401 ctgcagccag agctccaggg cgggctgcgc accaaggccc tgattgtgga tgagtcctgc
     2461 cggcggtgac catcttccaa catagggata tacctccctc cttcttataa ctgaagatcc
     2521 tggagcccgg aagattcagg gcagacagac cctgataatg agcctggcag ggaagggcaa
     2581 ccaacatctt gtaacttgct ttccccaccc tgtttctggg ggcagagcca attgcccaat
     2641 ttctacccta atccaaagtc cctggtgtgg gtggggttaa acgtgctggt gcatcctagg
     2701 tcatccaaga gtgagcgcca agtcctgaga aggggcacag aactccctgg agggtggaga
     2761 tggagcacct gccccccatg gcagggtaca ctctccccac agccttcctc cccaccatcc
     2821 cgtggggact ctcgggattt aagcactcgt ctctctggga ggcccagacc ccactccatt
     2881 tataggcaca tctccttcat ttcctaggtc actgcccctt tgtttacagc tcctgcctcc
     2941 tcccttgacc acagcctggt ttacaaattc catcagctcc cagccccacc tgccaaagtc
     3001 ccaggtttac aagccacgct tacttgctgt gtctgcgtgg aattctctcc tctgtcccct
     3061 ccagtctcct cattggagtg acctgaaggt gtggcttcct ccactttttc tcagtattac
     3121 tttgccttag ttttccccaa gagggaaggc tggaactctt aactctgtac cccttgatag
     3181 ttatttaatt ctgtttctcc tagtggttca caattgaact gaattgagat ggtgtcgggt
     3241 ggctaaggag acacctcacc tctccttccc cattgtgccg cctttatcaa ttgcctgttt
     3301 tgttttgttt gttttttaac tttccataat aaaatggagt tctcttcaa
//
