LOCUS       NM_000924               3193 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens phosphodiesterase 1B (PDE1B), transcript variant 1,
            mRNA.
ACCESSION   NM_000924
VERSION     NM_000924.4
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 3193)
  AUTHORS   Gootwine,E., Abu-Siam,M., Obolensky,A., Rosov,A., Honig,H.,
            Nitzan,T., Shirak,A., Ezra-Elia,R., Yamin,E., Banin,E.,
            Averbukh,E., Hauswirth,W.W., Ofri,R. and Seroussi,E.
  TITLE     Gene Augmentation Therapy for a Missense Substitution in the
            cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in
            Day-Blind Sheep
  JOURNAL   Invest Ophthalmol Vis Sci 58 (3), 1577-1584 (2017)
   PUBMED   28282490
  REMARK    GeneRIF: The c.1618G>A, p.Gly540Ser substitution in CNGA3 was
            identified as the causative mutation for a novel form of ACHM in
            Awassi sheep. Gene augmentation therapy restored vision in the
            affected sheep. This novel mutation provides a large-animal model
            that is valid for most human CNGA3 ACHM patients; the majority of
            them carry missense rather than premature-termination mutations.
REFERENCE   2  (bases 1 to 3193)
  AUTHORS   Bollen,E. and Prickaerts,J.
  TITLE     Phosphodiesterases in neurodegenerative disorders
  JOURNAL   IUBMB Life 64 (12), 965-970 (2012)
   PUBMED   23129425
  REMARK    Review article
REFERENCE   3  (bases 1 to 3193)
  AUTHORS   Lee,O.H., Kim,H., He,Q., Baek,H.J., Yang,D., Chen,L.Y., Liang,J.,
            Chae,H.K., Safari,A., Liu,D. and Songyang,Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   4  (bases 1 to 3193)
  AUTHORS   Lakics,V., Karran,E.H. and Boess,F.G.
  TITLE     Quantitative comparison of phosphodiesterase mRNA distribution in
            human brain and peripheral tissues
  JOURNAL   Neuropharmacology 59 (6), 367-374 (2010)
   PUBMED   20493887
  REMARK    Erratum:[Neuropharmacology. 2013 Apr;67:532]
REFERENCE   5  (bases 1 to 3193)
  AUTHORS   Vandeput,F., Wolda,S.L., Krall,J., Hambleton,R., Uher,L.,
            McCaw,K.N., Radwanski,P.B., Florio,V. and Movsesian,M.A.
  TITLE     Cyclic nucleotide phosphodiesterase PDE1C1 in human cardiac
            myocytes
  JOURNAL   J Biol Chem 282 (45), 32749-32757 (2007)
   PUBMED   17726023
REFERENCE   6  (bases 1 to 3193)
  AUTHORS   Yu,J., Wolda,S.L., Frazier,A.L., Florio,V.A., Martins,T.J.,
            Snyder,P.B., Harris,E.A., McCaw,K.N., Farrell,C.A., Steiner,B.,
            Bentley,J.K., Beavo,J.A., Ferguson,K. and Gelinas,R.
  TITLE     Identification and characterisation of a human
            calmodulin-stimulated phosphodiesterase PDE1B1
  JOURNAL   Cell Signal 9 (7), 519-529 (1997)
   PUBMED   9419816
REFERENCE   7  (bases 1 to 3193)
  AUTHORS   Spence,S., Rena,G., Sullivan,M., Erdogan,S. and Houslay,M.D.
  TITLE     Receptor-mediated stimulation of lipid signalling pathways in CHO
            cells elicits the rapid transient induction of the PDE1B isoform of
            Ca2+/calmodulin-stimulated cAMP phosphodiesterase
  JOURNAL   Biochem J 321 (Pt 1) (Pt 1), 157-163 (1997)
   PUBMED   9003415
REFERENCE   8  (bases 1 to 3193)
  AUTHORS   Jiang,X., Li,J., Paskind,M. and Epstein,P.M.
  TITLE     Inhibition of calmodulin-dependent phosphodiesterase induces
            apoptosis in human leukemic cells
  JOURNAL   Proc Natl Acad Sci U S A 93 (20), 11236-11241 (1996)
   PUBMED   8855339
REFERENCE   9  (bases 1 to 3193)
  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
REFERENCE   10 (bases 1 to 3193)
  AUTHORS   Repaske,D.R., Swinnen,J.V., Jin,S.L., Van Wyk,J.J. and Conti,M.
  TITLE     A polymerase chain reaction strategy to identify and clone cyclic
            nucleotide phosphodiesterase cDNAs. Molecular cloning of the cDNA
            encoding the 63-kDa calmodulin-dependent phosphodiesterase
  JOURNAL   J Biol Chem 267 (26), 18683-18688 (1992)
   PUBMED   1326532
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA254686.1, BC032226.1 and
            AC079310.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000924.3.
            
            Summary: The protein encoded by this gene belongs to the cyclic
            nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily.
            Members of the PDE1 family are calmodulin-dependent PDEs that are
            stimulated by a calcium-calmodulin complex. This PDE has
            dual-specificity for the second messengers, cAMP and cGMP, with a
            preference for cGMP as a substrate. cAMP and cGMP function as key
            regulators of many important physiological processes. Alternatively
            spliced transcript variants encoding different isoforms have been
            described for this gene.[provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: BC032226.1, SRR1803613.88186.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243052.8/ ENSP00000243052.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DA254686.1         209-227
            20-2363             BC032226.1         1-2344
            2364-2364           AC079310.20        16403-16403
            2365-3193           BC032226.1         2346-3174
FEATURES             Location/Qualifiers
     source          1..3193
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..3193
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="phosphodiesterase 1B"
                     /db_xref="GeneID:5153"
                     /db_xref="HGNC:HGNC:8775"
                     /db_xref="MIM:171891"
     exon            1..172
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            173..298
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             186..1796
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /EC_number="3.1.4.17"
                     /note="isoform 1 is encoded by transcript variant 1; dual
                     specificity calcium/calmodulin-dependent 3',5'-cyclic
                     nucleotide phosphodiesterase 1B;
                     calcium/calmodulin-stimulated cyclic nucleotide
                     phosphodiesterase; presumed 63kDa form of the type 1
                     cyclic nucleotide phosphodiesterase family known as PDE1B;
                     calmodulin-stimulated phosphodiesterase PDE1B1; cam-PDE
                     1B; 63 kDa Cam-PDE; phosphodiesterase 1B,
                     calmodulin-dependent; epididymis secretory sperm binding
                     protein Li 79p"
                     /codon_start=1
                     /product="dual specificity calcium/calmodulin-dependent
                     3',5'-cyclic nucleotide phosphodiesterase 1B isoform 1"
                     /protein_id="NP_000915.1"
                     /db_xref="CCDS:CCDS8882.1"
                     /db_xref="GeneID:5153"
                     /db_xref="HGNC:HGNC:8775"
                     /db_xref="MIM:171891"
                     /translation="MELSPRSPPEMLEESDCPSPLELKSAPSKKMWIKLRSLLRYMVK
                     QLENGEINIEELKKNLEYTASLLEAVYIDETRQILDTEDELQELRSDAVPSEVRDWLA
                     STFTQQARAKGRRAEEKPKFRSIVHAVQAGIFVERMFRRTYTSVGPTYSTAVLNCLKN
                     LDLWCFDVFSLNQAADDHALRTIVFELLTRHNLISRFKIPTVFLMSFLDALETGYGKY
                     KNPYHNQIHAADVTQTVHCFLLRTGMVHCLSEIELLAIIFAAAIHDYEHTGTTNSFHI
                     QTKSECAIVYNDRSVLENHHISSVFRLMQDDEMNIFINLTKDEFVELRALVIEMVLAT
                     DMSCHFQQVKTMKTALQQLERIDKPKALSLLLHAADISHPTKQWLVHSRWTKALMEEF
                     FRQGDKEAELGLPFSPLCDRTSTLVAQSQIGFIDFIVEPTFSVLTDVAEKSVQPLADE
                     DSKSKNQPSFQWRQPSLDVEVGDPNPDVVSFRSTWVKRIQENKQKWKERAASGITNQM
                     SIDELSPCEEEAPPSPAEDEHNQNGNLD"
     exon            299..412
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            413..595
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            596..662
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            663..779
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            780..920
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1021
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1147
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1249
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1370
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1452
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1561
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1692
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1693..1813
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1814..3193
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3174..3179
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="hexamer: AATAAA"
     polyA_site      3193
                     /gene="PDE1B"
                     /gene_synonym="HEL-S-79p; PDE1B1; PDES1B"
                     /note="major polyA site"
ORIGIN      
        1 agcgcgcggc ggcggcggcg gtagcggcag cagcagcggc ggtgcggaga gcttggactg
       61 ggagcccaaa gctcggctgg gcagcgggag aggaggagcc gcaggagctg cagctctgcc
      121 agcttgggcc gagcctagag acaccggcct ggctggtcca cgccagccgc agaccgtggc
      181 tgagcatgga gctgtccccc cgcagtcctc cggagatgct ggaggagtcg gattgcccgt
      241 cacccctgga gctgaagtca gcccccagca agaagatgtg gattaagctt cggtctctgc
      301 tgcgctacat ggtgaagcag ttggagaatg gggagataaa cattgaggag ctgaagaaaa
      361 atctggagta cacagcttct ctgctggaag ccgtctacat agatgagaca cggcaaatct
      421 tggacacgga ggacgagctg caggagctgc ggtcagatgc cgtgccttcg gaggtgcggg
      481 actggctggc ctccaccttc acccagcagg cccgggccaa aggccgccga gcagaggaga
      541 agcccaagtt ccgaagcatt gtgcacgctg tgcaggctgg gatcttcgtg gaacggatgt
      601 tccggagaac atacacctct gtgggcccca cttactctac tgcggttctc aactgtctca
      661 agaacctgga tctctggtgc tttgatgtct tttccttgaa ccaggcagca gatgaccatg
      721 ccctgaggac cattgttttt gagttgctga ctcggcataa cctcatcagc cgcttcaaga
      781 ttcccactgt gtttttgatg agtttcctgg atgccttgga gacaggctat gggaagtaca
      841 agaatcctta ccacaaccag atccacgcag ccgatgttac ccagacagtc cattgcttct
      901 tgctccgcac agggatggtg cactgcctgt cggagattga gctcctggcc atcatctttg
      961 ctgcagctat ccatgattat gagcacacgg gcactaccaa cagcttccac atccagacca
     1021 agtcagaatg tgccatcgtg tacaatgatc gttcagtgct ggagaatcac cacatcagct
     1081 ctgttttccg attgatgcag gatgatgaga tgaacatttt catcaacctc accaaggatg
     1141 agtttgtaga actccgagcc ctggtcattg agatggtgtt ggccacagac atgtcctgcc
     1201 atttccagca agtgaagacc atgaagacag ccttgcaaca gctggagagg attgacaagc
     1261 ccaaggccct gtctctactg ctccatgctg ctgacatcag ccacccaacc aagcagtggt
     1321 tggtccacag ccgttggacc aaggccctca tggaggaatt cttccgtcag ggtgacaagg
     1381 aggcagagtt gggcctgccc ttttctccac tctgtgaccg cacttccact ctagtggcac
     1441 agtctcagat agggttcatc gacttcattg tggagcccac attctctgtg ctgactgacg
     1501 tggcagagaa gagtgttcag cccctggcgg atgaggactc caagtctaaa aaccagccca
     1561 gctttcagtg gcgccagccc tctctggatg tggaagtggg agaccccaac cctgatgtgg
     1621 tcagctttcg ttccacctgg gtcaagcgca ttcaggagaa taagcagaaa tggaaggaac
     1681 gggcagcaag tggcatcacc aaccagatgt ccattgacga gctgtccccc tgtgaagaag
     1741 aggccccccc atcccctgcc gaagatgaac acaaccagaa tgggaatctg gattagccct
     1801 ggggctggcc caggtcttca ttgagtccaa agtgtttgat gtcatcagca ccatccatca
     1861 ggactggctc ccccatctgc tccaagggag cgtggtcgtg gaagaaacaa cccacctgaa
     1921 ggccaaatgc cagagatttg gggttgggga aagggcccct ccccacctga cacccactgg
     1981 ggtgcacttt aatgttccgg cagcaagact ggggaacttc aggctcccag tggtcactgt
     2041 gcccatccct cagcctctgg attctcttca tggccaggtg gctgccaggg agcggggagc
     2101 ttcctggagg cttcccaggg ccttggggaa gggtcagaga tgccagcccc ctgggacctc
     2161 ccccatcctt tttgcctcca agtttctaag caatacattt tgggggttcc ctcagccccc
     2221 caccccagat cttagctggc aggtctgggt gccccttttc ctcccctggg aagggctgga
     2281 ataggataga aagctggggg ttttcagagc cctatgtgtg gggaggggag tggattcctt
     2341 cagggcatgg tacctttcta ggacctggga atggggtgga gaggacatcc tcttcacccc
     2401 agaattgcgc tgcttcagcc ccatctccag cctgatcctc tgaatcttcc ttccctccct
     2461 ttctgataca gtgactgggg caaaaggagc cattgtgacc aggggctgcg ggaggccttt
     2521 cctgggacct tccttgggac tggtctgggc ccctggggct tgtcgcctgc cctgagtccg
     2581 gagccctttg cctccttcct ctcccctggg gctgggaggc tccatccgac caatgtctgt
     2641 aaagtgcttt gaggatctcc ccagcaaagc accttcagaa tgtatcgaca ccagctgggt
     2701 tagggtcaag ggtgcctggg gagggtgagt aatcctgcat tgctaaaaga gagggtctgt
     2761 cccctcctct ccacgtccca gaactggccc agctgcaggc actaagaagc tcctcccctg
     2821 agacaagtga ggggtagtcg gtgaaaggca gatggacaag gggctcaggg ctgctgcctt
     2881 cctgtcctct ggagagaacc cagccaggcg cggtgcccct tcctctcctc aggctcctcc
     2941 ttgcccccac cttgccccag gaaaggccaa agtccaggtg actgccctcc ttctttcttg
     3001 taaataccaa ccatgcattt gtacagtggg ccctgttcat gcgaaatcca catccatggt
     3061 ctcctagacc tgctaccctg gtacttccac cctaccccac cccgagaagg gcagagacgc
     3121 atgtgactca cccctgccct tggtttccca gacccctgct atagccagag aacaataaag
     3181 aagggagacc agg
//
