LOCUS       NM_017917               1511 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens protein phosphatase 2 regulatory subunit B''gamma
            (PPP2R3C), transcript variant 1, mRNA.
ACCESSION   NM_017917
VERSION     NM_017917.4
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 1511)
  AUTHORS   Ganga,A.K., Sweeney,L.K., Rubio Ramos,A., Wrinn,C.M., Bishop,C.S.,
            Hamel,V., Guichard,P. and Breslow,D.K.
  TITLE     A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module
            controls centrosome function
  JOURNAL   Curr Biol 34 (20), 4824-4834 (2024)
   PUBMED   39317195
  REMARK    GeneRIF: A disease-associated PPP2R3C-MAP3K1 phospho-regulatory
            module controls centrosome function.
REFERENCE   2  (bases 1 to 1511)
  AUTHORS   Altunoglu,U., Borklu,E., Shukla,A., Escande-Beillard,N., Ledig,S.,
            Azakli,H., Nayak,S.S., Eraslan,S., Girisha,K.M., Kennerknecht,I.
            and Kayserili,H.
  TITLE     Expanding the spectrum of syndromic PPP2R3C-related XY gonadal
            dysgenesis to XX gonadal dysgenesis
  JOURNAL   Clin Genet 101 (2), 221-232 (2022)
   PUBMED   34750818
  REMARK    GeneRIF: Expanding the spectrum of syndromic PPP2R3C-related XY
            gonadal dysgenesis to XX gonadal dysgenesis.
REFERENCE   3  (bases 1 to 1511)
  AUTHORS   Cicek,D., Warr,N., Yesil,G., Kocak Eker,H., Bas,F., Poyrazoglu,S.,
            Darendeliler,F., Direk,G., Hatipoglu,N., Eltan,M., Yavas Abali,Z.,
            Gurpinar Tosun,B., Kaygusuz,S.B., Seven Menevse,T., Helvacioglu,D.,
            Turan,S., Bereket,A., Reeves,R., Simon,M., Mackenzie,M., Teboul,L.,
            Greenfield,A. and Guran,T.
  TITLE     Broad-spectrum XX and XY gonadal dysgenesis in patients with a
            homozygous L193S variant in PPP2R3C
  JOURNAL   Eur J Endocrinol 186 (1), 65-72 (2021)
   PUBMED   34714774
  REMARK    GeneRIF: Broad-spectrum XX and XY gonadal dysgenesis in patients
            with a homozygous L193S variant in PPP2R3C.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1511)
  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   5  (bases 1 to 1511)
  AUTHORS   Guran,T., Yesil,G., Turan,S., Atay,Z., Bozkurtlar,E., Aghayev,A.,
            Gul,S., Tinay,I., Aru,B., Arslan,S., Koroglu,M.K., Ercan,F.,
            Demirel,G.Y., Eren,F.S., Karademir,B. and Bereket,A.
  TITLE     PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and
            impaired spermatogenesis in humans
  JOURNAL   Eur J Endocrinol 180 (5), 291-309 (2019)
   PUBMED   30893644
  REMARK    GeneRIF: findings suggest that protein phosphatase 2 regulatory
            subunit B (PPP2R3C) is involved in the ontogeny of multiple organs,
            especially critical for testis development and spermatogenesis
REFERENCE   6  (bases 1 to 1511)
  AUTHORS   Katayama,K., Yamaguchi,M., Noguchi,K. and Sugimoto,Y.
  TITLE     Protein phosphatase complex PP5/PPP2R3C dephosphorylates
            P-glycoprotein/ABCB1 and down-regulates the expression and function
  JOURNAL   Cancer Lett 345 (1), 124-131 (2014)
   PUBMED   24333728
  REMARK    GeneRIF: Knockdown of PP5 and/or PPP2R3C increased P-gp expression
            and lowered the sensitivity to vincristine and doxorubicin.
            Consequently, results indicate that PP5/PPP2R3C negatively
            regulates P-gp expression and function.
REFERENCE   7  (bases 1 to 1511)
  AUTHORS   Kitabatake,M., Toda,T., Kuwahara,K., Igarashi,H., Ohtsuji,M.,
            Tsurui,H., Hirose,S. and Sakaguchi,N.
  TITLE     Transgenic overexpression of G5PR that is normally augmented in
            centrocytes impairs the enrichment of high-affinity
            antigen-specific B cells, increases peritoneal B-1a cells, and
            induces autoimmunity in aged female mice
  JOURNAL   J Immunol 189 (3), 1193-1201 (2012)
   PUBMED   22753944
  REMARK    GeneRIF: G5PR expression is markedly augmented in the centrocytes
            of germinal centers after immunization of transgenic mice with T
            cell-dependent antigen.
REFERENCE   8  (bases 1 to 1511)
  AUTHORS   Xing,Y., Igarashi,H., Wang,X. and Sakaguchi,N.
  TITLE     Protein phosphatase subunit G5PR is needed for inhibition of B cell
            receptor-induced apoptosis
  JOURNAL   J Exp Med 202 (5), 707-719 (2005)
   PUBMED   16129705
REFERENCE   9  (bases 1 to 1511)
  AUTHORS   Kono,Y., Maeda,K., Kuwahara,K., Yamamoto,H., Miyamoto,E.,
            Yonezawa,K., Takagi,K. and Sakaguchi,N.
  TITLE     MCM3-binding GANP DNA-primase is associated with a novel
            phosphatase component G5PR
  JOURNAL   Genes Cells 7 (8), 821-834 (2002)
   PUBMED   12167160
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY157304.1.
            
            On Aug 11, 2020 this sequence version replaced NM_017917.3.
            
            Summary: This gene encodes a regulatory subunit of the
            serine/threonine phosphatase, protein phosphatase 2. This protein
            is localized to both nuclear and cytoplasmic regions depending on
            cell cycle phase. Homozygous conditional knockout mice for this
            gene exhibit reduced numbers and impaired proliferation of immune
            system B cells. This protein may regulate the expression of the
            P-glycoprotein ATP-binding cassette transporter through its
            phosphatase activity. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY157304.1, BC006823.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261475.10/ ENSP00000261475.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1511              AY157304.1         324-1834
FEATURES             Location/Qualifiers
     source          1..1511
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.2"
     gene            1..1511
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /note="protein phosphatase 2 regulatory subunit B''gamma"
                     /db_xref="GeneID:55012"
                     /db_xref="HGNC:HGNC:17485"
                     /db_xref="MIM:615902"
     exon            1..89
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1393
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /note="isoform 1 is encoded by transcript variant 1;
                     serine/threonine-protein phosphatase 2A regulatory subunit
                     B'' subunit gamma; protein phosphatase subunit G5PR;
                     rhabdomyosarcoma antigen MU-RMS-40.6A; rhabdomyosarcoma
                     antigen Mu-RMS-40.6C; protein phosphatase 2, regulatory
                     subunit B'', gamma; protein phosphatase 2 (formerly 2A),
                     regulatory subunit B''"
                     /codon_start=1
                     /product="serine/threonine-protein phosphatase 2A
                     regulatory subunit B'' subunit gamma isoform 1"
                     /protein_id="NP_060387.2"
                     /db_xref="CCDS:CCDS9654.1"
                     /db_xref="GeneID:55012"
                     /db_xref="HGNC:HGNC:17485"
                     /db_xref="MIM:615902"
                     /translation="MDWKEVLRRRLATPNTCPNKKKSEQELKDEEMDLFTKYYSEWKG
                     GRKNTNEFYKTIPRFYYRLPAEDEVLLQKLREESRAVFLQRKSRELLDNEELQNLWFL
                     LDKHQTPPMIGEEAMINYENFLKVGEKAGAKCKQFFTAKVFAKLLHTDSYGRISIMQF
                     FNYVMRKVWLHQTRIGLSLYDVAGQGYLRESDLENYILELIPTLPQLDGLEKSFYSFY
                     VCTAVRKFFFFLDPLRTGKIKIQDILACSFLDDLLELRDEELSKESQETNWFSAPSAL
                     RVYGQYLNLDKDHNGMLSKEELSRYGTATMTNVFLDRVFQECLTYDGEMDYKTYLDFV
                     LALENRKEPAALQYIFKLLDIENKGYLNVFSLNYFFRAIQELMKIHGQDPVSFQDVKD
                     EIFDMVKPKDPLKISLQDLINSNQGDTVTTILIDLNGFWTYENREALVANDSENSADL
                     DDT"
     exon            90..217
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            218..322
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            323..435
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            436..533
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            534..604
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            605..737
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            738..793
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            794..869
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            870..1006
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1144
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1204
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1511
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1481..1486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /note="hexamer: AATAAA"
     polyA_site      1511
                     /gene="PPP2R3C"
                     /gene_synonym="C14orf10; G4-1; G5pr; GDRM; MEGD; SPGF36"
                     /note="major polyA site"
ORIGIN      
        1 aaatgcagaa gctgctgcgc ggaagtcggc catggactgg aaagaagttc ttcgtcggcg
       61 cctagcgacg cccaacacct gtccaaacaa aaaaaaaagt gaacaagaat taaaagatga
      121 agaaatggat ttatttacaa aatattactc cgaatggaaa ggaggtagaa aaaacacaaa
      181 tgaattctat aagaccattc cccggtttta ttataggctg cctgctgaag atgaagtctt
      241 actacagaaa ttaagagagg aatcaagagc tgtctttcta caaagaaaaa gcagagaact
      301 gttagataat gaagaattac agaacttatg gtttttgctg gacaaacacc agacaccacc
      361 tatgattgga gaggaagcga tgatcaatta cgaaaacttt ttgaaggttg gtgaaaaggc
      421 tggagcaaag tgcaagcaat ttttcacagc aaaagtcttt gctaaactcc ttcatacaga
      481 ttcatatgga agaatttcca tcatgcagtt ctttaattat gtcatgagaa aagtttggct
      541 tcatcaaaca agaataggac tcagtttata tgatgtcgct gggcaggggt accttcggga
      601 atctgattta gaaaactaca tattggaact tatccctacg ttgccacaat tagatggtct
      661 ggaaaaatct ttctactcct tttatgtttg tacagcagtt aggaagttct tcttcttttt
      721 agatccttta agaacaggaa agataaaaat tcaagatatt ttagcatgca gcttcctaga
      781 tgatttattg gagctaaggg atgaggaact gtccaaggag agtcaagaaa caaattggtt
      841 ttctgctcct tctgccctaa gagtttatgg ccagtacttg aatcttgata aagatcacaa
      901 tggcatgctc agtaaagaag aactctcacg ctatggaaca gctaccatga ccaatgtctt
      961 cttagaccgt gttttccagg agtgtctcac ttatgatgga gaaatggact ataagaccta
     1021 cttggacttt gtccttgcat tagaaaacag aaaggaacct gcagctctac aatatatttt
     1081 caaactgctt gatattgaga acaaaggata cctgaatgtc ttttcactta attatttctt
     1141 tagggccata caggaactaa tgaaaatcca tggacaagat cctgtttcat ttcaagatgt
     1201 caaggatgaa atctttgaca tggtaaaacc aaaggatcct ttgaaaatct ctcttcagga
     1261 tttaatcaac agtaatcaag gagacacagt aaccaccatt ctaatcgatt tgaatggctt
     1321 ctggacttac gagaacagag aggctcttgt tgcaaatgac agtgaaaact ctgcagacct
     1381 tgatgataca tgatctctga aagactagac tgtcttatat tatgagatac ttgaatgctg
     1441 catgtaaagc ctttaaagca aaatcctcag aaatggtcta aataaaacac ttgatatgcc
     1501 tagagaacac a
//
