LOCUS       NM_033215               3477 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens protein phosphatase 1 regulatory subunit 3F (PPP1R3F),
            transcript variant 1, mRNA.
ACCESSION   NM_033215 XM_372210
VERSION     NM_033215.5
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 3477)
  AUTHORS   Liu,Z., Xin,B., Smith,I.N., Sency,V., Szekely,J., Alkelai,A.,
            Shuldiner,A., Efthymiou,S., Rajabi,F., Coury,S., Brownstein,C.A.,
            Rudnik-Schoneborn,S., Bruel,A.L., Thevenon,J., Zeidler,S.,
            Jayakar,P., Schmidt,A., Cremer,K., Engels,H., Peters,S.O.,
            Zaki,M.S., Duan,R., Zhu,C., Xu,Y., Gao,C., Sepulveda-Morales,T.,
            Maroofian,R., Alkhawaja,I.A., Khawaja,M., Alhalasah,H., Houlden,H.,
            Madden,J.A., Turchetti,V., Marafi,D., Agrawal,P.B., Schatz,U.,
            Rotenberg,A., Rotenberg,J., Mancini,G.M.S., Bakhtiari,S., Kruer,M.,
            Thiffault,I., Hirsch,S., Hempel,M., Stuhn,L.G., Haack,T.B.,
            Posey,J.E., Lupski,J.R., Lee,H., Sarn,N.B., Eng,C.,
            Gonzaga-Jauregui,C., Zhang,B. and Wang,H.
  TITLE     Hemizygous variants in protein phosphatase 1 regulatory subunit 3F
            (PPP1R3F) are associated with a neurodevelopmental disorder
            characterized by developmental delay, intellectual disability and
            autistic features
  JOURNAL   Hum Mol Genet 32 (20), 2981-2995 (2023)
   PUBMED   37531237
  REMARK    GeneRIF: Hemizygous variants in protein phosphatase 1 regulatory
            subunit 3F (PPP1R3F) are associated with a neurodevelopmental
            disorder characterized by developmental delay, intellectual
            disability and autistic features.
REFERENCE   2  (bases 1 to 3477)
  AUTHORS   Tian,T., Bi,H., Zhang,D., Liu,Y., Sun,H., Jia,C., Zheng,T.,
            Huang,H., Fu,J., Zhu,L. and Zhao,Y.
  TITLE     Methylation of three genes encoded by X chromosome in blood
            leukocytes and colorectal cancer risk
  JOURNAL   Cancer Med 10 (14), 4964-4976 (2021)
   PUBMED   34145793
  REMARK    GeneRIF: Methylation of three genes encoded by X chromosome in
            blood leukocytes and colorectal cancer risk.
REFERENCE   3  (bases 1 to 3477)
  AUTHORS   Kelsall,I.R., Voss,M., Munro,S., Cuthbertson,D.J. and Cohen,P.T.
  TITLE     R3F, a novel membrane-associated glycogen targeting subunit of
            protein phosphatase 1 regulates glycogen synthase in astrocytoma
            cells in response to glucose and extracellular signals
  JOURNAL   J Neurochem 118 (4), 596-610 (2011)
   PUBMED   21668450
REFERENCE   4  (bases 1 to 3477)
  AUTHORS   Piton,A., Gauthier,J., Hamdan,F.F., Lafreniere,R.G., Yang,Y.,
            Henrion,E., Laurent,S., Noreau,A., Thibodeau,P., Karemera,L.,
            Spiegelman,D., Kuku,F., Duguay,J., Destroismaisons,L., Jolivet,P.,
            Cote,M., Lachapelle,K., Diallo,O., Raymond,A., Marineau,C.,
            Champagne,N., Xiong,L., Gaspar,C., Riviere,J.B., Tarabeux,J.,
            Cossette,P., Krebs,M.O., Rapoport,J.L., Addington,A., Delisi,L.E.,
            Mottron,L., Joober,R., Fombonne,E., Drapeau,P. and Rouleau,G.A.
  TITLE     Systematic resequencing of X-chromosome synaptic genes in autism
            spectrum disorder and schizophrenia
  JOURNAL   Mol Psychiatry 16 (8), 867-880 (2011)
   PUBMED   20479760
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3477)
  AUTHORS   Suttner,K., Depner,M., Wetzke,M., Klopp,N., von Mutius,E.,
            Illig,T., Sparwasser,T. and Kabesch,M.
  TITLE     Genetic variants harbored in the forkhead box protein 3 locus
            increase hay fever risk
  JOURNAL   J Allergy Clin Immunol 125 (6), 1395-1399 (2010)
   PUBMED   20398921
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3477)
  AUTHORS   Ceulemans,H., Stalmans,W. and Bollen,M.
  TITLE     Regulator-driven functional diversification of protein
            phosphatase-1 in eukaryotic evolution
  JOURNAL   Bioessays 24 (4), 371-381 (2002)
   PUBMED   11948623
  REMARK    Review article
REFERENCE   7  (bases 1 to 3477)
  AUTHORS   Schindelhauer,D., Hellebrand,H., Grimm,L., Bader,I., Meitinger,T.,
            Wehnert,M., Ross,M. and Meindl,A.
  TITLE     Long-range map of a 3.5-Mb region in Xp11.23-22 with a
            sequence-ready map from a 1.1-Mb gene-rich interval
  JOURNAL   Genome Res 6 (11), 1056-1069 (1996)
   PUBMED   8938429
  REMARK    GeneRIF: Maps this gene as HB2E at the DXS9823E marker sequence.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC232271.2, DC412626.1,
            BF726691.1, AK056909.1, BE670223.1, AI694535.1 and AI699647.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_033215.4.
            
            Summary: This gene encodes a protein that has been identified as
            one of several type-1 protein phosphatase (PP1) regulatory
            subunits. One or two of these subunits, together with the
            well-conserved catalytic subunit, can form the PP1 holoenzyme,
            where the regulatory subunit functions to regulate substrate
            specificity and/or targeting to a particular cellular compartment.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056909.1, SRR1660803.124007.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000055335.11/ ENSP00000055335.6
            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
            1-50                AC232271.2         13635-13684         c
            51-91               DC412626.1         1-41
            92-225              BF726691.1         31-164
            226-1207            AK056909.1         1-982
            1208-1220           DC412626.1         483-495
            1221-2905           AK056909.1         996-2680
            2906-3002           BE670223.1         173-269
            3003-3474           AI694535.1         1-472               c
            3475-3477           AI699647.1         22-24               c
FEATURES             Location/Qualifiers
     source          1..3477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..3477
                     /gene="PPP1R3F"
                     /gene_synonym="HB2E; LL0XNC01-7P3.1; R3F"
                     /note="protein phosphatase 1 regulatory subunit 3F"
                     /db_xref="GeneID:89801"
                     /db_xref="HGNC:HGNC:14944"
                     /db_xref="MIM:301104"
     exon            1..1081
                     /gene="PPP1R3F"
                     /gene_synonym="HB2E; LL0XNC01-7P3.1; R3F"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..2477
                     /gene="PPP1R3F"
                     /gene_synonym="HB2E; LL0XNC01-7P3.1; R3F"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein phosphatase 1, regulatory (inhibitor) subunit 3F"
                     /codon_start=1
                     /product="protein phosphatase 1 regulatory subunit 3F
                     isoform 1"
                     /protein_id="NP_149992.3"
                     /db_xref="CCDS:CCDS35254.1"
                     /db_xref="GeneID:89801"
                     /db_xref="HGNC:HGNC:14944"
                     /db_xref="MIM:301104"
                     /translation="MARTAPVEPPLRHSAPPSPAAGEPRTSVEAAVAPRRVLFADEAL
                     GLPLAQLRRYRPWGGPGAGKMAAAAGQDGGGGGGADEDDDGEDGDEGEEEEEACPEPS
                     PLCPVPAGGGFYLVPTFSLPPAPGRLERLGRVMVELEALLPPPGAVPGGAGVWVPGGR
                     PPVLRGLVRVLNRSFEKAVHVRASHDGWASFCDHPARYVPRSPPWAGAGGTGAGDPIL
                     DPGLGLGPGQASASSPDDGGRTDRFAFQLPFAEGAGDGARLDFVVRYETPEGTFWANN
                     HGRNYTVLLRIAPAPTPTDAEGLPQQQQLPQLEPQPECQGPVEAEARQLKSCMKPVRR
                     RPAEEELKTKNMDDNTFAMAEHPDVQESVGPLVAPTPLRPWPQMTLQVSDVPMTGNPA
                     EEGDVPRSSPPVAFTEVLQAPAIRIPPSSPLCGLGGSPRDQASGPDASEGATGPFLEP
                     SQQQAEATWGVSSENGGGLEAVSGSEELLGEDTIDQELEQLYLSHLSRLRAAVAAGGA
                     GGGGEGSTDGGMSPSHPLGILTDRDLILKWPGPERALNSALAEEITLHYARLGRGVEL
                     IKDTEDPDDEGEGEEGLSVTPSSPEGDSPKESPPEILSGARSVVATMGDVWLPWAEGS
                     GCDGPVVLGTEGQFIGDPEKGMGKDTSSLHMNRVIAGVTESLGEAGTEAQIEVTSEWA
                     GSLDPISGKEPASPVLLQGQNPTLLSPLGAEVCLSSVARPHVSSQDEKDAGPSLEPPK
                     KSPTLAVPAECVCALPPQLRGPLTQTLGVLAGLVVVPVALNSGVSLLVLALCLSLAWF
                     S"
     exon            1082..1137
                     /gene="PPP1R3F"
                     /gene_synonym="HB2E; LL0XNC01-7P3.1; R3F"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1220
                     /gene="PPP1R3F"
                     /gene_synonym="HB2E; LL0XNC01-7P3.1; R3F"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..3477
                     /gene="PPP1R3F"
                     /gene_synonym="HB2E; LL0XNC01-7P3.1; R3F"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2882..2887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPP1R3F"
                     /gene_synonym="HB2E; LL0XNC01-7P3.1; R3F"
                     /note="hexamer: AATAGA"
     polyA_site      2905
                     /gene="PPP1R3F"
                     /gene_synonym="HB2E; LL0XNC01-7P3.1; R3F"
                     /note="major polyA site"
ORIGIN      
        1 attggctgcc cgccccttca ggccctgccc ccgccggtcc cgccgccggt gccgtcggtg
       61 ccgccgccgc cgccgatatg gcgcgtacgg cccctgtgga gcccccgctg cggcattccg
      121 cgcccccctc gccggccgcg ggtgagcccc gcacctcggt cgaggcggcg gtggccccgc
      181 ggagggtgct gttcgccgac gaggccttgg ggctgccgct ggcgcagttg cgccgctacc
      241 ggccgtgggg cgggcccggg gcgggcaaga tggcggcggc ggccgggcaa gatggcggcg
      301 gcggcggcgg ggccgacgag gacgacgatg gcgaggatgg ggatgaaggg gaggaggaag
      361 aggaggcttg ccccgagccc tcaccgctgt gccccgtccc cgctggcggg gggttttacc
      421 tggtccccac attttcgctg ccgcccgcgc cgggccgtct ggagcgcttg gggcgcgtca
      481 tggtggagct ggaggcgctg ctgccgcctc ccggagcggt ccccgggggt gccggggtgt
      541 gggtgcctgg gggccgcccg ccggtgctgc gcgggttggt acgcgtgctg aaccgctcct
      601 tcgagaaggc ggtgcacgtg cgggcctcac acgacggctg ggcttccttt tgcgaccacc
      661 cagcgcgcta cgtcccgcgc agcccgccgt gggcaggagc gggaggaaca ggagcaggag
      721 atcccatcct ggatccgggg ctcggcctgg gtcccggcca ggcatccgcc tcctcgcccg
      781 acgacggcgg ccgcaccgac cgctttgcct tccagctgcc ctttgctgag ggcgcgggcg
      841 atggggcgcg cctcgacttc gtggtgcgct atgagacccc tgagggcact ttctgggcca
      901 acaaccacgg ccgcaactac acagtcctgc tccggatcgc acccgctccc acacccactg
      961 atgccgaagg gctgccccag cagcagcagc tgccgcagct ggagccacag cccgagtgcc
     1021 agggtcccgt ggaggctgag gccaggcagc tgaagagctg catgaagccg gtgaggcgca
     1081 ggcctgccga ggaggaactg aagacgaaga acatggatga taacaccttt gccatggcag
     1141 agcatcctga tgtccaggag tcagtgggtc cactggtagc ccccacccct ctccgtccat
     1201 ggccccagat gacacttcag gtttctgacg ttccgatgac tggcaacccc gcagaagaag
     1261 gtgatgtccc cagaagcagt ccacctgtgg cttttacaga ggtcctccag gcaccggcca
     1321 tcaggattcc cccctcctcc cctctctgtg gcctgggtgg ctcccccaga gaccaggcct
     1381 cagggcccga tgcgagcgag ggggccaccg ggcctttcct ggagcccagt cagcagcagg
     1441 cagaggccac atggggagta tcgagtgaga atggaggggg gctggaggct gtgagtgggt
     1501 cagaggagct gctcggtgag gacaccatcg accaggagct ggagcagctc tacctgtctc
     1561 acctgagccg cctacgggct gctgtggctg cgggtggggc agggggtggt ggggagggct
     1621 ccacagatgg agggatgtcc cccagccatc ccctgggcat actgacggac cgcgacctga
     1681 tcttgaagtg gcctggccct gagcgggccc tgaacagcgc cctggctgag gagatcacgc
     1741 tgcactatgc ccggctgggg cgtggcgtgg agctcatcaa ggacaccgaa gaccctgatg
     1801 atgaagggga gggtgaagag gggctctctg tcacaccctc cagcccagaa ggggacagcc
     1861 ccaaggaatc gcctccagaa atcctctccg gggcccgttc tgtggtagcc acgatgggag
     1921 atgtgtggct cccatgggca gagggctcag gatgtgacgg ccctgtggtt ctgggtacag
     1981 agggtcagtt cattggggat cctgagaaag ggatgggcaa ggacaccagc tctttgcaca
     2041 tgaatagggt gatagctggg gtgactgagt ccctggggga ggccgggaca gaagcccaga
     2101 tagaggtcac cagtgagtgg gcaggcagct tggatcccat atctggcaag gagccagcct
     2161 ctcccgtcct tctgcagggg caaaatccca ccctcctcag tcccttgggg gccgaagtct
     2221 gtctctctag tgtagccagg cctcatgtga gctcccagga tgaaaaggat gcaggcccaa
     2281 gccttgaacc cccaaagaag tctcccaccc tagcagtccc tgcagaatgt gtgtgtgcac
     2341 tgcctcctca gctccggggg cccttgaccc agactctggg ggtcctggcc gggctagtgg
     2401 tggtccctgt ggctctgaac agcggtgtgt ccctcctggt gcttgcgctg tgcctctctc
     2461 tggcttggtt ctcataggct ctgcttgtgg gatcagcaga ggcttaagat gggatacatg
     2521 gcctgtgcag tgaggggacc tgggtccttt gcttctgaga atgctcaact gaaagagagg
     2581 ccttctcatc cccaagctct ccagtcaaca cagggctccc tgtggtgaca ccagtggaga
     2641 tgagggaacg ggtagatggt gtgagtgagg ggaactttta gagtggaact gggcatgtcc
     2701 tccgcctacc ccccgagcct gtatttattt ttgtataatt ctctggatga gggagagtgg
     2761 tcgtgagctg gtcttggggc acaattaccc agagatatat ttattaacag ccaacctgtg
     2821 caacctgctg gagctttatt tttaatttaa tttatataga gtacctatta ttatatgcca
     2881 caatagagct ctatgagaaa cagtgtcttg cggtgtagtg ttctcctgtt tgggcatgag
     2941 tgtgcagggt ggtcactttc tgtgggagga tcacagtggg gagttggggg tgggacgtgg
     3001 tcgcctgctg ctgcttcaac atgtctttcc ttgaagatgt gtgtctcctc gtctcgtggt
     3061 cctaatccat atggttcttt gtcttttcca cattctgcct gtgggaccct acaggtgtgt
     3121 atttggatgg tggtggtggg agccagggag gaagagtggc agccacatga gggtttggtg
     3181 tcagtcacat ggttgcagtg gtagctgtgg tctcctgtgg atgtggggac atcagttgtg
     3241 aatcagccac aaggttttga ggttactgaa aaaacagcct ttgacaccag cagggagacc
     3301 ccttagtccc tgagataagg aaggcctcag aaaggaaaga ggagttaatg tactgcagta
     3361 cttggtagca cagttgctgt ccacagacat cacatttcta ctaaaaacag gaagcccaga
     3421 agctttgaaa gaaagatata tatttattgc atgcaaataa aaaactgctc aacaaaa
//
