LOCUS       NM_002711               4328 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens protein phosphatase 1 regulatory subunit 3A (PPP1R3A),
            mRNA.
ACCESSION   NM_002711
VERSION     NM_002711.4
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 4328)
  AUTHORS   Shi,H., Kong,R., Miao,X., Gou,L., Yin,X., Ding,Y., Cao,X., Meng,Q.,
            Gu,M. and Suo,F.
  TITLE     Decreased PPP1R3G in pre-eclampsia impairs human trophoblast
            invasion and migration via Akt/MMP-9 signaling pathway
  JOURNAL   Exp Biol Med (Maywood) 248 (16), 1373-1382 (2023)
   PUBMED   37642261
  REMARK    GeneRIF: Decreased PPP1R3G in pre-eclampsia impairs human
            trophoblast invasion and migration via Akt/MMP-9 signaling pathway.
            Erratum:[Exp Biol Med (Maywood). 2024 Dec 13;249:10419. doi:
            10.3389/ebm.2024.10419.. PMID: 39790903]
REFERENCE   2  (bases 1 to 4328)
  AUTHORS   Cordero,P., Parikh,V.N., Chin,E.T., Erbilgin,A., Gloudemans,M.J.,
            Shang,C., Huang,Y., Chang,A.C., Smith,K.S., Dewey,F., Zaleta,K.,
            Morley,M., Brandimarto,J., Glazer,N., Waggott,D., Pavlovic,A.,
            Zhao,M., Moravec,C.S., Tang,W.H.W., Skreen,J., Malloy,C.,
            Hannenhalli,S., Li,H., Ritter,S., Li,M., Bernstein,D., Connolly,A.,
            Hakonarson,H., Lusis,A.J., Margulies,K.B., Depaoli-Roach,A.A.,
            Montgomery,S.B., Wheeler,M.T., Cappola,T. and Ashley,E.A.
  TITLE     Pathologic gene network rewiring implicates PPP1R3A as a central
            regulator in pressure overload heart failure
  JOURNAL   Nat Commun 10 (1), 2760 (2019)
   PUBMED   31235787
  REMARK    GeneRIF: Genome-wide genotyping study and gene expression
            measurements of healthy and failing human hearts revealed important
            regulators and cardiac expression quantitative trait loci. PPP1R3A
            emerges as a regulator whose network connectivity changes
            significantly between health and disease. RNA sequencing after
            PPP1R3A knockdown validates network-based predictions and establish
            PPP1R3A as a central regulator in heart failure.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4328)
  AUTHORS   Sanchez-Pozos,K., Ortiz-Lopez,M.G., Pena-Espinoza,B.I., de Los
            Angeles Granados-Silvestre,M., Jimenez-Jacinto,V., Verleyen,J.,
            Tekola-Ayele,F., Sanchez-Flores,A. and Menjivar,M.
  TITLE     Whole-exome sequencing in maya indigenous families: variant in
            PPP1R3A is associated with type 2 diabetes
  JOURNAL   Mol Genet Genomics 293 (5), 1205-1216 (2018)
   PUBMED   29948331
  REMARK    GeneRIF: Variant in PPP1R3A is associated with type 2 diabetes.
REFERENCE   4  (bases 1 to 4328)
  AUTHORS   Li,J., Ivansson,E., Klevebring,D., Tobin,N.P., Lindstrom,L.S.,
            Holm,J., Prochazka,G., Cristando,C., Palmgren,J., Tornberg,S.,
            Humphreys,K., Hartman,J., Frisell,J., Rantalainen,M., Lindberg,J.,
            Hall,P., Bergh,J., Gronberg,H. and Czene,K.
  TITLE     Molecular Differences between Screen-Detected and Interval Breast
            Cancers Are Largely Explained by PAM50 Subtypes
  JOURNAL   Clin Cancer Res 23 (10), 2584-2592 (2017)
   PUBMED   27587435
  REMARK    GeneRIF: In the univariate analyses, TP53, PPP1R3A, and KMT2B were
            significantly more frequently mutated in interval cancers than in
            screen-detected cancers.
REFERENCE   5  (bases 1 to 4328)
  AUTHORS   Sung,Y.J., de las Fuentes,L., Schwander,K.L., Simino,J. and
            Rao,D.C.
  TITLE     Gene-smoking interactions identify several novel blood pressure
            loci in the Framingham Heart Study
  JOURNAL   Am J Hypertens 28 (3), 343-354 (2015)
   PUBMED   25189868
REFERENCE   6  (bases 1 to 4328)
  AUTHORS   Berrebi-Bertrand,I., Souchet,M., Camelin,J.C., Laville,M.P.,
            Calmels,T. and Bril,A.
  TITLE     Biophysical interaction between phospholamban and protein
            phosphatase 1 regulatory subunit GM
  JOURNAL   FEBS Lett 439 (3), 224-230 (1998)
   PUBMED   9845327
REFERENCE   7  (bases 1 to 4328)
  AUTHORS   Xia,J., Scherer,S.W., Cohen,P.T., Majer,M., Xi,T., Norman,R.A.,
            Knowler,W.C., Bogardus,C. and Prochazka,M.
  TITLE     A common variant in PPP1R3 associated with insulin resistance and
            type 2 diabetes
  JOURNAL   Diabetes 47 (9), 1519-1524 (1998)
   PUBMED   9726244
REFERENCE   8  (bases 1 to 4328)
  AUTHORS   Hansen,L., Hansen,T., Vestergaard,H., Bjorbaek,C., Echwald,S.M.,
            Clausen,J.O., Chen,Y.H., Chen,M.X., Cohen,P.T. and Pedersen,O.
  TITLE     A widespread amino acid polymorphism at codon 905 of the
            glycogen-associated regulatory subunit of protein phosphatase-1 is
            associated with insulin resistance and hypersecretion of insulin
  JOURNAL   Hum Mol Genet 4 (8), 1313-1320 (1995)
   PUBMED   7581368
REFERENCE   9  (bases 1 to 4328)
  AUTHORS   Chen,Y.H., Hansen,L., Chen,M.X., Bjorbaek,C., Vestergaard,H.,
            Hansen,T., Cohen,P.T. and Pedersen,O.
  TITLE     Sequence of the human glycogen-associated regulatory subunit of
            type 1 protein phosphatase and analysis of its coding region and
            mRNA level in muscle from patients with NIDDM
  JOURNAL   Diabetes 43 (10), 1234-1241 (1994)
   PUBMED   7926294
REFERENCE   10 (bases 1 to 4328)
  AUTHORS   Hubbard,M.J. and Cohen,P.
  TITLE     Regulation of protein phosphatase-1G from rabbit skeletal muscle.
            1. Phosphorylation by cAMP-dependent protein kinase at site 2
            releases catalytic subunit from the glycogen-bound holoenzyme
  JOURNAL   Eur J Biochem 186 (3), 701-709 (1989)
   PUBMED   2558013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC126451.1, AC092465.5,
            X78578.1 and DB527300.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002711.3.
            
            Summary: The glycogen-associated form of protein phosphatase-1
            (PP1) derived from skeletal muscle is a heterodimer composed of a
            37-kD catalytic subunit and a 124-kD targeting and regulatory
            subunit. This gene encodes the regulatory subunit which binds to
            muscle glycogen with high affinity, thereby enhancing
            dephosphorylation of glycogen-bound substrates for PP1 such as
            glycogen synthase and glycogen phosphorylase kinase. [provided by
            RefSeq, Jul 2008].
            
            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 :: X78578.1, BC126451.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2148874,
                                           SAMEA2149178 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284601.4/ ENSP00000284601.3
            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
            1-1363              BC126451.1         57-1419
            1364-1441           AC092465.5         166694-166771       c
            1442-2657           BC126451.1         1498-2713
            2658-2658           AC092465.5         165477-165477       c
            2659-3451           BC126451.1         2715-3507
            3452-3841           X78578.1           3437-3826
            3842-4278           DB527300.2         229-665
            4279-4328           AC092465.5         163807-163856       c
FEATURES             Location/Qualifiers
     source          1..4328
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.1"
     gene            1..4328
                     /gene="PPP1R3A"
                     /gene_synonym="GM; PP1G; PPP1R3"
                     /note="protein phosphatase 1 regulatory subunit 3A"
                     /db_xref="GeneID:5506"
                     /db_xref="HGNC:HGNC:9291"
                     /db_xref="MIM:600917"
     exon            1..795
                     /gene="PPP1R3A"
                     /gene_synonym="GM; PP1G; PPP1R3"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..3382
                     /gene="PPP1R3A"
                     /gene_synonym="GM; PP1G; PPP1R3"
                     /EC_number="3.1.3.16"
                     /note="serine /threonine specific protein phosphatase;
                     type-1 protein phosphatase skeletal muscle glycogen
                     targeting subunit; protein phosphatase type-1 glycogen
                     targeting subunit; protein phosphatase 1 glycogen-
                     associated regulatory subunit; glycogen and sarcoplasmic
                     reticulum binding subunit, skeletal muscle; RG1; protein
                     phosphatase 1 regulatory subunit GM; glycogen-associated
                     regulatory subunit of protein phosphatase-1; protein
                     phosphatase 1, regulatory (inhibitor) subunit 3A"
                     /codon_start=1
                     /product="protein phosphatase 1 regulatory subunit 3A"
                     /protein_id="NP_002702.2"
                     /db_xref="CCDS:CCDS5759.1"
                     /db_xref="GeneID:5506"
                     /db_xref="HGNC:HGNC:9291"
                     /db_xref="MIM:600917"
                     /translation="MEPSEVPSQISKDNFLEVPNLSDSLCEDEEVTFQPGFSPQPSRR
                     GSDSSEDIYLDTPSSGTRRVSFADSFGFNLVSVKEFDCWELPSASTTFDLGTDIFHTE
                     EYVLAPLFDLPSSKEDLMQQLQIQKAILESTESLLGSTSIKGIIRVLNVSFEKLVYVR
                     MSLDDWQTHYDILAEYVPNSCDGETDQFSFKIVLVPPYQKDGSKVEFCIRYETSVGTF
                     WSNNNGTNYTFICQKKEQEPEPVKPWKEVPNRQIKGCLKVKSSKEESSVTSEENNFEN
                     PKNTDTYIPTIICSHEDKEDLEASNRNVKDVNREHDEHNEKELELMINQHLIRTRSTA
                     SRDERNTFSTDPVNFPNKAEGLEKKQIHGEICTDLFQRSLSPSSSAESSVKGDFYCNE
                     KYSSGDDCTHQPSEETTSNMGEIKPSLGDTSSDELVQLHTGSKEVLDDNANPAHGNGT
                     VQIPCPSSDQLMAGNLNKKHEGGAKNIEVKDLGCLRRDFHSDTSACLKESTEEGSSKE
                     DYYGNGKDDEEQRIYLGVNEKQRKNFQTILHDQERKMGNPKISVAGIGASNRDLATLL
                     SEHTAIPTRAITADVSHSPRTNLSWEEAVLTPEHHHLTSEGSALGGITGQVCSSRTGN
                     VLRNDYLFQVEEKSGGINSEDQDNSPQHKQSWNVLESQGKSRENKTNITEHIKGQTDC
                     EDVWGKRDNTRSLKATTEELFTCQETVCCELSSLADHGITEKAEAGTAYIIKTTSEST
                     PESMSAREKAIIAKLPQETARSDRPIEVKETAFDPHEGRNDDSHYTLCQRDTVGVIYD
                     NDFEKESRLGICNVRVDEMEKEETMSMYNPRKTHDREKCGTGNITSVEESSWVITEYQ
                     KATSKLDLQLGMLPTDKTVFSENRDLRQVQELSKKTDSDAIVHSAFNSDTNRAPQNSS
                     PFSKHHTEISVSTNEQAIAVENAVTTMASQPISTKSENICNSTREIQGIEKHPYPESK
                     PEEVSRSSGIVTSGSRKERCIGQIFQTEEYSVEKSLGPMILINKPLENMEEARHENEG
                     LVSSGQSLYTSGEKESDSSASTSLPVEESQAQGNESLFSKYTNSKIPYFLLFLIFLIT
                     VYHYDLMIGLTFYVLSLSWLSWEEGRQKESVKKK"
     exon            796..854
                     /gene="PPP1R3A"
                     /gene_synonym="GM; PP1G; PPP1R3"
                     /inference="alignment:Splign:2.1.0"
     exon            855..979
                     /gene="PPP1R3A"
                     /gene_synonym="GM; PP1G; PPP1R3"
                     /inference="alignment:Splign:2.1.0"
     exon            980..4328
                     /gene="PPP1R3A"
                     /gene_synonym="GM; PP1G; PPP1R3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4249..4254
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP1R3A"
                     /gene_synonym="GM; PP1G; PPP1R3"
                     /note="hexamer: AATAAA"
     polyA_site      4267
                     /gene="PPP1R3A"
                     /gene_synonym="GM; PP1G; PPP1R3"
                     /note="major polyA site"
ORIGIN      
        1 atcagagagc ccaatggagc cttctgaagt acctagtcag attagcaaag ataatttttt
       61 agaagttcct aatttatctg actctctttg tgaagatgaa gaagttactt tccaacctgg
      121 tttctcccct caaccaagta gacgaggttc tgattcttct gaagacatat acctggatac
      181 cccatcttca ggtactagaa gagtttcatt tgctgattcc tttggattca atcttgtgtc
      241 tgttaaagaa tttgattgct gggaattacc gagtgcttca accacttttg acttagggac
      301 ggacattttc cacacagaag aatatgtttt agccccactg tttgacttgc cttcttcaaa
      361 agaagatctt atgcaacaac tccaaataca gaaagcaata ctggagtcaa ctgagtctct
      421 tcttgggtct acaagtatca agggtattat tcgagttttg aatgtttctt ttgagaagtt
      481 agtatatgta agaatgtctt tagatgactg gcagacacat tatgacattt tagcagaata
      541 tgttcctaat tcatgtgatg gtgaaactga ccagttctcc tttaagattg tattggttcc
      601 tccttatcaa aaagatggca gtaaagttga gttttgtata cgttatgaaa cttctgttgg
      661 tacattttgg tcaaataata atggcacaaa ttatacattc atttgtcaaa agaaagaaca
      721 agagccggag cctgtaaaac catggaaaga agttcctaac agacaaataa aaggctgctt
      781 aaaggtaaaa tcaagtaaag aagaatcatc agtaacatca gaagaaaata actttgagaa
      841 tccaaagaat acagatacct atatcccaac aatcatttgt tctcatgagg acaaggaaga
      901 tttggaagcc agtaatcgaa atgtaaaaga tgtaaacagg gaacatgatg aacataatga
      961 aaaagaatta gagttgatga taaatcaaca cttaataaga accagaagta ctgcttccag
     1021 agatgaaagg aatacatttt caacagatcc agtcaatttt ccaaataaag cagaggggtt
     1081 agagaagaag caaatccatg gtgaaatatg tactgacttg ttccaaaggt ctctgtctcc
     1141 aagttcatca gcagaaagct ccgtaaaggg agatttttac tgcaatgaaa aatattcctc
     1201 aggagatgac tgtacacatc aaccttcaga ggaaactact tcaaatatgg gagaaatcaa
     1261 gccatcattg ggagatacta gtagtgatga actagtgcaa ttacatactg gcagcaaaga
     1321 agtcctggat gataatgcta atccagccca tggcaatggc acagtgcaaa taccttgccc
     1381 ctcttcagat caactaatgg caggaaacct taataaaaaa catgaaggag gagctaaaaa
     1441 tattgaagta aaagatttgg gatgtttacg aagagatttc cattcagata cgtcggcatg
     1501 tctcaaagaa tcaacagaag aaggatcttc taaggaagat tattatggca atggtaagga
     1561 tgatgaagaa caaagaatat atttaggtgt taatgaaaaa caaagaaaaa atttccaaac
     1621 aatcttacat gaccaagaaa ggaagatggg taaccctaaa ataagtgtgg cagggattgg
     1681 agctagtaac agagacctgg ctactctgct gagcgaacat accgcaatcc ccacccgggc
     1741 aatcacagca gatgtgtctc attcaccaag gacaaattta agttgggaag aagctgtgtt
     1801 aaccccagag catcatcatt tgactagtga aggcagcgct ttaggaggga taactggtca
     1861 agtttgttca tcaagaactg gaaatgtttt gaggaatgat tatcttttcc aagttgaaga
     1921 aaaatcaggt gggattaatt ctgaagatca ggataatagc ccacagcata aacaaagttg
     1981 gaatgttctg gaaagtcagg gaaaatcaag agagaataag acaaacataa cagagcatat
     2041 caaaggacaa acagattgtg aagacgtgtg gggaaaaaga gataatacga ggagtttgaa
     2101 agctactaca gaagaattgt ttacctgcca agaaacagtg tgctgtgaac tgtcttctct
     2161 agctgatcat ggcattactg agaaagcaga agctggtaca gcctatataa ttaagacaac
     2221 atcagaaagt actccagaaa gcatgtctgc tagagaaaaa gcaataattg ctaagctacc
     2281 tcaagagaca gcacgaagtg acaggcccat cgaggtaaag gaaacagcgt ttgatccaca
     2341 tgaagggaga aatgatgatt cacattatac cctttgtcaa cgagatacag taggtgtaat
     2401 ctatgacaat gattttgaaa aggaatcacg tttaggtatt tgtaatgtac gtgtagatga
     2461 aatggagaag gaagaaacca tgtctatgta caatcctagg aagacacatg acagggagaa
     2521 atgtggcact ggaaatataa catctgtgga agaatcctca tgggtcatta cagaatatca
     2581 aaaagcaact tcaaaactgg atttacagtt gggaatgtta ccaacagaca aaactgtatt
     2641 ttcagaaaac agagatctta ggcaggttca agaattatca aagaaaacag actcggatgc
     2701 cattgtgcat tctgctttta actcagacac taatagagct cctcagaata gctctccttt
     2761 ttccaaacat catactgaaa tttcagtgtc aactaatgag caggcaattg ctgtagagaa
     2821 tgcagttact accatggcta gccaacctat ttctacgaaa tcagaaaata tttgtaattc
     2881 aacaagagaa atccagggta ttgagaagca cccttatcct gagtctaaac ctgaagaagt
     2941 ttccagaagt tcaggaatag tgacatcagg tagtagaaaa gaaagatgca taggccagat
     3001 tttccaaaca gaagagtata gtgtggaaaa atctctaggg ccaatgattt taatcaacaa
     3061 acctcttgag aatatggaag aagcaaggca tgaaaatgaa ggattagtaa gctctgggca
     3121 atcactatac acttcaggtg aaaaggaatc tgacagctct gcttctacta gtcttcctgt
     3181 tgaggaaagt caagctcaag gcaacgaatc tttgttttca aaatatacca actctaaaat
     3241 accttatttc cttttgtttc tgatatttct tataactgtc taccattatg acttaatgat
     3301 tggcttgaca ttctacgttt tgtcattgtc ctggctatcc tgggaagagg gtagacaaaa
     3361 agagtctgtc aaaaagaagt aacctcagca ctactattct ctcttaaaag ataagctatt
     3421 taaccccaaa catttggatt ggtgaatggg actattcatt gttcaaagat ccagtgcagt
     3481 ttttctcttg aaggatcatt taaaaaggga cgcgaataag tttgctcctt catataagta
     3541 attattctat ataggaccat tatgtttgga tcattaaata cctatatgaa tatgagatct
     3601 gaagcacgtc aagttgaaat taggtacagc tgttgctcct tagcaggcta tgaagttgca
     3661 atgcttcaca tctcttcact acttaaagtg ctatttcttg cattcatttc tcttgcaata
     3721 aagcttcatt tttttttccc cttgagagta tatattttcc cctacggttt taaaaaacag
     3781 ataaaacatg gacaatggca gaggactttt ttggtctttt agtattgaac atgaaatttg
     3841 ttcaatttat catttatcag gattcattga tcaaatattt caacctttca tatttttaag
     3901 aaaacaccca tatatattga aatgcaaact taaacatatt ctgttcactt gagtgtaata
     3961 cttgatgcat gcacacacac acacacatac cttctttata gctacaaagt cagggcgttc
     4021 ataggcaaaa tctgacaaga ctgaaacaat tgggagatta tctttcaatt ctgaaaaatt
     4081 ctgtgggtgg cctgtcttta agcaatgctt ttctcttgtg agggaagact gtaacacagc
     4141 tgaactattt cagtgtcaac tattcagaat tgaaaatgta aattaaaatt tccacaagca
     4201 ttgcttcaga atgaatttgt acctataaag cataaggcat taaatgacaa taaaaattcc
     4261 aaatggacta tttgttccac attgtatttt tgtcttcaaa tattttctaa gagaatgaat
     4321 tatccccc
//
