LOCUS       NM_002606               2192 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1,
            mRNA.
ACCESSION   NM_002606
VERSION     NM_002606.3
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 2192)
  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 2192)
  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 2192)
  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 2192)
  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 2192)
  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 2192)
  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 2192)
  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 2192)
  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 2192)
  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 2192)
  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,
            AF067223.1, BC009047.1 and AF048837.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002606.2.
            
            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 (1) represents the longest
            transcript and encodes the longest 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 :: AF067223.1, AF048837.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291539.11/ ENSP00000291539.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-131               AP001626.1         79527-79657
            132-195             AI492065.1         365-428             c
            196-1033            AF067223.1         14-851
            1034-1598           BC009047.1         697-1261
            1599-2088           AF048837.1         1465-1954
            2089-2192           AF067223.1         1907-2010
FEATURES             Location/Qualifiers
     source          1..2192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2192
                     /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..1976
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /EC_number="3.1.4.35"
                     /note="isoform a is encoded by transcript variant 1;
                     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 a"
                     /protein_id="NP_002597.1"
                     /db_xref="CCDS:CCDS13690.1"
                     /db_xref="GeneID:5152"
                     /db_xref="HGNC:HGNC:8795"
                     /db_xref="MIM:602973"
                     /translation="MGSGSSSYRPKAIYLDIDGRIQKVIFSKYCNSSDIMDLFCIATG
                     LPRNTTISLLTTDDAMVSIDPTMPANSERTPYKVRPVAIKQLSAGVEDKRTTSRGQSA
                     ERPLRDRRVVGLEQPRREGAFESGQVEPRPREPQGCYQEGQRIPPEREELIQSVLAQV
                     AEQFSRAFKINELKAEVANHLAVLEKRVELEGLKVVEIEKCKSDIKKMREELAARSSR
                     TNCPCKYSFLDNHKKLTPRRDVPTYPKYLLSPETIEALRKPTFDVWLWEPNEMLSCLE
                     HMYHDLGLVRDFSINPVTLRRWLFCVHDNYRNNPFHNFRHCFCVAQMMYSMVWLCSLQ
                     EKFSQTDILILMTAAICHDLDHPGYNNTYQINARTELAVRYNDISPLENHHCAVAFQI
                     LAEPECNIFSNIPPDGFKQIRQGMITLILATDMARHAEIMDSFKEKMENFDYSNEEHM
                     TLLKMILIKCCDISNEVRPMEVAEPWVDCLLEEYFMQSDREKSEGLPVAPFMDRDKVT
                     KATAQIGFIKFVLIPMFETVTKLFPMVEEIMLQPLWESRDRYEELKRIDDAMKELQKK
                     TDSLTSGATEKSRERSRDVKNSEGDCA"
     exon            264..334
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            335..412
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            413..456
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            457..636
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            637..691
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            692..762
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            763..847
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            848..929
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1004
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1091
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1196
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1279
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1436
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1550
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1655
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1656..1784
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1880
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1881..1962
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1963..2192
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2173..2178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE9A"
                     /gene_synonym="HSPDE9A2"
                     /note="hexamer: AATATA"
     polyA_site      2192
                     /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 ctcggaacac gaccatctcc ctgctgacca
      361 ccgacgacgc catggtctcc atcgacccca ccatgcccgc gaattcagaa cgcactccgt
      421 acaaagtgag acctgtggcc atcaagcaac tctccgctgg tgtcgaggac aagagaacca
      481 caagccgtgg ccagtctgct gagagaccac tgagggacag acgggttgtg ggcctggagc
      541 agccccggag ggaaggagca tttgaaagtg gacaggtaga gcccaggccc agagagcccc
      601 agggctgcta ccaggaaggc cagcgcatcc ctccagagag agaagaatta atccagagcg
      661 tgctggcgca ggttgcagag cagttctcaa gagcattcaa aatcaatgaa ctgaaagctg
      721 aagttgcaaa tcacttggct gtcctagaga aacgcgtgga attggaagga ctaaaagtgg
      781 tggagattga gaaatgcaag agtgacatta agaagatgag ggaggagctg gcggccagaa
      841 gcagcaggac caactgcccc tgtaagtaca gttttttgga taaccacaag aagttgactc
      901 ctcgacgcga tgttcccact taccccaagt acctgctctc tccagagacc atcgaggccc
      961 tgcggaagcc gacctttgac gtctggcttt gggagcccaa tgagatgctg agctgcctgg
     1021 agcacatgta ccacgacctc gggctggtca gggacttcag catcaaccct gtcaccctca
     1081 ggaggtggct gttctgcgtc cacgacaact acagaaacaa ccccttccac aacttccggc
     1141 actgcttctg cgtggcccag atgatgtaca gcatggtctg gctctgcagt ctccaggaga
     1201 agttctcaca aacggatatc ctgatcctaa tgacagcggc catctgccac gatctggacc
     1261 atcccggcta caacaacacg taccagatca atgcccgcac agagctggcg gtccgctaca
     1321 atgacatctc accgctggag aaccaccact gcgccgtggc cttccagatc ctcgccgagc
     1381 ctgagtgcaa catcttctcc aacatcccac ctgatgggtt caagcagatc cgacagggaa
     1441 tgatcacatt aatcttggcc actgacatgg caagacatgc agaaattatg gattctttca
     1501 aagagaaaat ggagaatttt gactacagca acgaggagca catgaccctg ctgaagatga
     1561 ttttgataaa atgctgtgat atctctaacg aggtccgtcc aatggaagtc gcagagcctt
     1621 gggtggactg tttattagag gaatatttta tgcagagcga ccgtgagaag tcagaaggcc
     1681 ttcctgtggc accgttcatg gaccgagaca aagtgaccaa ggccacagcc cagattgggt
     1741 tcatcaagtt tgtcctgatc ccaatgtttg aaacagtgac caagctcttc cccatggttg
     1801 aggagatcat gctgcagcca ctttgggaat cccgagatcg ctacgaggag ctgaagcgga
     1861 tagatgacgc catgaaagag ttacagaaga agactgacag cttgacgtct ggggccaccg
     1921 agaagtccag agagagaagc agagatgtga aaaacagtga aggagactgt gcctgaggaa
     1981 agcggggggc gtggctgcag ttctggacgg gctggccgag ctgcgcggga tccttgtgca
     2041 gggaagagct gccctgggca cctggcacca caagaccatg ttttctaaga accattttgt
     2101 tcactgatac aaaaaaaaaa aaaggaattc atgatgctgt acagaatttt atttttaaac
     2161 tgtcttttaa ataatatatt cttatacgga aa
//
