LOCUS       NM_001001574            1934 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 9,
            mRNA.
ACCESSION   NM_001001574
VERSION     NM_001001574.2
KEYWORDS    RefSeq.
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 1934)
  AUTHORS   Besler,C., Rommel,K.P., Kresoja,K.P., Morbitz,J., Kirsten,H.,
            Scholz,M., Klingel,K., Thiery,J., Burkhardt,R., Buttner,P.,
            Adams,V., Thiele,H. and Lurz,P.
  TITLE     Evaluation of phosphodiesterase 9A as a novel biomarker in heart
            failure with preserved ejection fraction
  JOURNAL   ESC Heart Fail 8 (3), 1861-1872 (2021)
   PUBMED   33787083
  REMARK    GeneRIF: Evaluation of phosphodiesterase 9A as a novel biomarker in
            heart failure with preserved ejection fraction.
REFERENCE   2  (bases 1 to 1934)
  AUTHORS   Susmi,T.F., Rahman,A., Khan,M.M.R., Yasmin,F., Islam,M.S.,
            Nasif,O., Alharbi,S.A., Batiha,G.E. and Hossain,M.U.
  TITLE     Prognostic and clinicopathological insights of phosphodiesterase 9A
            gene as novel biomarker in human colorectal cancer
  JOURNAL   BMC Cancer 21 (1), 577 (2021)
   PUBMED   34016083
  REMARK    GeneRIF: Prognostic and clinicopathological insights of
            phosphodiesterase 9A gene as novel biomarker in human colorectal
            cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1934)
  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 1934)
  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 1934)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 1934)
  AUTHORS   Wang,P., Wu,P., Egan,R.W. and Billah,M.M.
  TITLE     Identification and characterization of a new human type 9
            cGMP-specific phosphodiesterase splice variant (PDE9A5).
            Differential tissue distribution and subcellular localization of
            PDE9A variants
  JOURNAL   Gene 314, 15-27 (2003)
   PUBMED   14527714
REFERENCE   7  (bases 1 to 1934)
  AUTHORS   Rentero,C., Monfort,A. and Puigdomenech,P.
  TITLE     Identification and distribution of different mRNA variants produced
            by differential splicing in the human phosphodiesterase 9A gene
  JOURNAL   Biochem Biophys Res Commun 301 (3), 686-692 (2003)
   PUBMED   12565835
  REMARK    GeneRIF: Identification and distribution of different variants
            produced by differential splicing of phosphodiesterase 9A mRNA.
REFERENCE   8  (bases 1 to 1934)
  AUTHORS   Guipponi,M., Scott,H.S., Kudoh,J., Kawasaki,K., Shibuya,K.,
            Shintani,A., Asakawa,S., Chen,H., Lalioti,M.D., Rossier,C.,
            Minoshima,S., Shimizu,N. and Antonarakis,S.E.
  TITLE     Identification and characterization of a novel cyclic nucleotide
            phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative
            splicing of mRNA transcripts, genomic structure and sequence
  JOURNAL   Hum Genet 103 (4), 386-392 (1998)
   PUBMED   9856478
REFERENCE   9  (bases 1 to 1934)
  AUTHORS   Fisher,D.A., Smith,J.F., Pillar,J.S., St Denis,S.H. and Cheng,J.B.
  TITLE     Isolation and characterization of PDE9A, a novel human
            cGMP-specific phosphodiesterase
  JOURNAL   J Biol Chem 273 (25), 15559-15564 (1998)
   PUBMED   9624146
REFERENCE   10 (bases 1 to 1934)
  AUTHORS   Loughney,K., Martins,T.J., Harris,E.A., Sadhu,K., Hicks,J.B.,
            Sonnenburg,W.K., Beavo,J.A. and Ferguson,K.
  TITLE     Isolation and characterization of cDNAs corresponding to two human
            calcium, calmodulin-regulated, 3',5'-cyclic nucleotide
            phosphodiesterases
  JOURNAL   J Biol Chem 271 (2), 796-806 (1996)
   PUBMED   8557689
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001626.1, AI492065.1,
            AF048837.1, AY196303.1, BC009047.1 and AF067223.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001001574.1.
            
            Summary: The protein encoded by this gene catalyzes the hydrolysis
            of cAMP and cGMP to their corresponding monophosphates. The encoded
            protein plays a role in signal transduction by regulating the
            intracellular concentration of these cyclic nucleotides. Multiple
            transcript variants encoding several different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (9) lacks two alternate in-frame
            exons compared to variant 1. The resulting isoform (h) has the same
            N- and C-termini but lacks two internal segments compared to
            isoform a.
            
            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 :: AY196303.1, SRR18074969.1867260.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-131               AP001626.1         79527-79657
            132-134             AI492065.1         426-428             c
            135-158             AF048837.1         1-24
            159-775             AY196303.1         1-617
            776-1340            BC009047.1         697-1261
            1341-1830           AF048837.1         1465-1954
            1831-1934           AF067223.1         1907-2010
FEATURES             Location/Qualifiers
     source          1..1934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..1934
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /note="phosphodiesterase 9A"
                     /db_xref="GeneID:5152"
                     /db_xref="HGNC:HGNC:8795"
                     /db_xref="MIM:602973"
     exon            1..263
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             195..1718
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /EC_number="3.1.4.35"
                     /note="isoform h is encoded by transcript variant 9;
                     CGMP-specific 3',5'-cyclic phosphodiesterase type 9; high
                     affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A;
                     phosphodiesterase PDE9A21"
                     /codon_start=1
                     /product="high affinity cGMP-specific 3',5'-cyclic
                     phosphodiesterase 9A isoform h"
                     /protein_id="NP_001001574.1"
                     /db_xref="CCDS:CCDS42941.1"
                     /db_xref="GeneID:5152"
                     /db_xref="HGNC:HGNC:8795"
                     /db_xref="MIM:602973"
                     /translation="MGSGSSSYRPKAIYLDIDGRIQKVIFSKYCNSSDIMDLFCIATG
                     LPRTPYKVRPVAIKQLSEREELIQSVLAQVAEQFSRAFKINELKAEVANHLAVLEKRV
                     ELEGLKVVEIEKCKSDIKKMREELAARSSRTNCPCKYSFLDNHKKLTPRRDVPTYPKY
                     LLSPETIEALRKPTFDVWLWEPNEMLSCLEHMYHDLGLVRDFSINPVTLRRWLFCVHD
                     NYRNNPFHNFRHCFCVAQMMYSMVWLCSLQEKFSQTDILILMTAAICHDLDHPGYNNT
                     YQINARTELAVRYNDISPLENHHCAVAFQILAEPECNIFSNIPPDGFKQIRQGMITLI
                     LATDMARHAEIMDSFKEKMENFDYSNEEHMTLLKMILIKCCDISNEVRPMEVAEPWVD
                     CLLEEYFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFVLIPMFETVTKLFPMVE
                     EIMLQPLWESRDRYEELKRIDDAMKELQKKTDSLTSGATEKSRERSRDVKNSEGDCA"
     exon            264..334
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            335..378
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            379..433
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            434..504
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            505..589
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            590..671
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            672..746
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            747..833
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            834..938
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1021
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1178
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1292
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..1397
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1526
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1527..1622
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1623..1704
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1934
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1915..1920
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /note="hexamer: AATATA"
     polyA_site      1934
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /note="major polyA site"
ORIGIN      
        1 gagcggagga gaccctgcgg cgcgcggcgg cggctcccgg gcgtcccggg cccggtggcg
       61 gcgcggctgt ggttggctga gcgccgcggg ccgccccccg cccgccccct cccctgctcc
      121 cctcccccgc ctcccgcggc ggctggcgtc gggaaagtac agtaaaaagt ccgagtgcag
      181 ccgccgggcg caggatggga tccggctcct ccagctaccg gcccaaggcc atctacctgg
      241 acatcgatgg acgcattcag aaggtaatct tcagcaagta ctgcaactcc agcgacatca
      301 tggacctgtt ctgcatcgcc accggcctgc ctcgcactcc gtacaaagtg agacctgtgg
      361 ccatcaagca actctccgag agagaagaat taatccagag cgtgctggcg caggttgcag
      421 agcagttctc aagagcattc aaaatcaatg aactgaaagc tgaagttgca aatcacttgg
      481 ctgtcctaga gaaacgcgtg gaattggaag gactaaaagt ggtggagatt gagaaatgca
      541 agagtgacat taagaagatg agggaggagc tggcggccag aagcagcagg accaactgcc
      601 cctgtaagta cagttttttg gataaccaca agaagttgac tcctcgacgc gatgttccca
      661 cttaccccaa gtacctgctc tctccagaga ccatcgaggc cctgcggaag ccgacctttg
      721 acgtctggct ttgggagccc aatgagatgc tgagctgcct ggagcacatg taccacgacc
      781 tcgggctggt cagggacttc agcatcaacc ctgtcaccct caggaggtgg ctgttctgcg
      841 tccacgacaa ctacagaaac aaccccttcc acaacttccg gcactgcttc tgcgtggccc
      901 agatgatgta cagcatggtc tggctctgca gtctccagga gaagttctca caaacggata
      961 tcctgatcct aatgacagcg gccatctgcc acgatctgga ccatcccggc tacaacaaca
     1021 cgtaccagat caatgcccgc acagagctgg cggtccgcta caatgacatc tcaccgctgg
     1081 agaaccacca ctgcgccgtg gccttccaga tcctcgccga gcctgagtgc aacatcttct
     1141 ccaacatccc acctgatggg ttcaagcaga tccgacaggg aatgatcaca ttaatcttgg
     1201 ccactgacat ggcaagacat gcagaaatta tggattcttt caaagagaaa atggagaatt
     1261 ttgactacag caacgaggag cacatgaccc tgctgaagat gattttgata aaatgctgtg
     1321 atatctctaa cgaggtccgt ccaatggaag tcgcagagcc ttgggtggac tgtttattag
     1381 aggaatattt tatgcagagc gaccgtgaga agtcagaagg ccttcctgtg gcaccgttca
     1441 tggaccgaga caaagtgacc aaggccacag cccagattgg gttcatcaag tttgtcctga
     1501 tcccaatgtt tgaaacagtg accaagctct tccccatggt tgaggagatc atgctgcagc
     1561 cactttggga atcccgagat cgctacgagg agctgaagcg gatagatgac gccatgaaag
     1621 agttacagaa gaagactgac agcttgacgt ctggggccac cgagaagtcc agagagagaa
     1681 gcagagatgt gaaaaacagt gaaggagact gtgcctgagg aaagcggggg gcgtggctgc
     1741 agttctggac gggctggccg agctgcgcgg gatccttgtg cagggaagag ctgccctggg
     1801 cacctggcac cacaagacca tgttttctaa gaaccatttt gttcactgat acaaaaaaaa
     1861 aaaaaggaat tcatgatgct gtacagaatt ttatttttaa actgtctttt aaataatata
     1921 ttcttatacg gaaa
//
