LOCUS       NM_001191057            4349 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens phosphodiesterase 1C (PDE1C), transcript variant 2,
            mRNA.
ACCESSION   NM_001191057
VERSION     NM_001191057.4
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 4349)
  AUTHORS   Zhang,C., Zhao,H., Cai,Y., Xiong,J., Mohan,A., Lou,D., Shi,H.,
            Zhang,Y., Long,X., Wang,J. and Yan,C.
  TITLE     Cyclic nucleotide phosphodiesterase 1C contributes to abdominal
            aortic aneurysm
  JOURNAL   Proc Natl Acad Sci U S A 118 (31) (2021)
   PUBMED   34312235
  REMARK    GeneRIF: Cyclic nucleotide phosphodiesterase 1C contributes to
            abdominal aortic aneurysm.
REFERENCE   2  (bases 1 to 4349)
  AUTHORS   Brzezinska,P., Simpson,N.J., Hubert,F., Jacobs,A.N., Umana,M.B.,
            MacKeil,J.L., Burke-Kleinman,J., Payne,D.M., Ferguson,A.V. and
            Maurice,D.H.
  TITLE     Phosphodiesterase 1C integrates store-operated calcium entry and
            cAMP signaling in leading-edge protrusions of migrating human
            arterial myocytes
  JOURNAL   J Biol Chem 296, 100606 (2021)
   PUBMED   33789162
  REMARK    GeneRIF: Phosphodiesterase 1C integrates store-operated calcium
            entry and cAMP signaling in leading-edge protrusions of migrating
            human arterial myocytes.
REFERENCE   3  (bases 1 to 4349)
  AUTHORS   Wang,L., Feng,Y., Yan,D., Qin,L., Grati,M., Mittal,R., Li,T.,
            Sundhari,A.K., Liu,Y., Chapagain,P., Blanton,S.H., Liao,S. and
            Liu,X.
  TITLE     A dominant variant in the PDE1C gene is associated with
            nonsyndromic hearing loss
  JOURNAL   Hum Genet 137 (6-7), 437-446 (2018)
   PUBMED   29860631
  REMARK    GeneRIF: By combining population-specific mutation arrays, targeted
            deafness genes panel, whole exome sequencing (WES), we identified
            PDE1C (Phosphodiesterase 1C) c.958G>T (p.A320S) as the
            disease-associated variant. Structural modeling insights into
            p.A320S strongly suggest that the sequence alteration will likely
            affect the substrate-binding pocket of PDE1C.
REFERENCE   4  (bases 1 to 4349)
  AUTHORS   Rowther,F.B., Wei,W., Dawson,T.P., Ashton,K., Singh,A.,
            Madiesse-Timchou,M.P., Thomas,D.G., Darling,J.L. and Warr,T.
  TITLE     Cyclic nucleotide phosphodiesterase-1C (PDE1C) drives cell
            proliferation, migration and invasion in glioblastoma multiforme
            cells in vitro
  JOURNAL   Mol Carcinog 55 (3), 268-279 (2016)
   PUBMED   25620587
  REMARK    GeneRIF: PDE1C is a proliferation-associated gene in glioblastoma
            multiforme cells in vitro.
REFERENCE   5  (bases 1 to 4349)
  AUTHORS   Cai,Y., Nagel,D.J., Zhou,Q., Cygnar,K.D., Zhao,H., Li,F., Pi,X.,
            Knight,P.A. and Yan,C.
  TITLE     Role of cAMP-phosphodiesterase 1C signaling in regulating growth
            factor receptor stability, vascular smooth muscle cell growth,
            migration, and neointimal hyperplasia
  JOURNAL   Circ Res 116 (7), 1120-1132 (2015)
   PUBMED   25608528
  REMARK    GeneRIF: PDE1C is an important regulator of SMC proliferation,
            migration, and neointimal hyperplasia, in part through modulating
            endosome/lysosome-dependent PDGFRbeta protein degradation via
            low-density lipoprotein receptor-related protein-1.
REFERENCE   6  (bases 1 to 4349)
  AUTHORS   Rybalkin,S.D., Rybalkina,I., Beavo,J.A. and Bornfeldt,K.E.
  TITLE     Cyclic nucleotide phosphodiesterase 1C promotes human arterial
            smooth muscle cell proliferation
  JOURNAL   Circ Res 90 (2), 151-157 (2002)
   PUBMED   11834707
REFERENCE   7  (bases 1 to 4349)
  AUTHORS   Yan,C., Zhao,A.Z., Sonnenburg,W.K. and Beavo,J.A.
  TITLE     Stage and cell-specific expression of calmodulin-dependent
            phosphodiesterases in mouse testis
  JOURNAL   Biol Reprod 64 (6), 1746-1754 (2001)
   PUBMED   11369604
REFERENCE   8  (bases 1 to 4349)
  AUTHORS   Zauli,G., Milani,D., Mirandola,P., Mazzoni,M., Secchiero,P.,
            Miscia,S. and Capitani,S.
  TITLE     HIV-1 Tat protein down-regulates CREB transcription factor
            expression in PC12 neuronal cells through a phosphatidylinositol
            3-kinase/AKT/cyclic nucleoside phosphodiesterase pathway
  JOURNAL   FASEB J 15 (2), 483-491 (2001)
   PUBMED   11156964
REFERENCE   9  (bases 1 to 4349)
  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 4349)
  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 AK056170.1, AC006377.3,
            AC007093.3, HY125708.1, AI301181.1, CB135276.1 and AI168057.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001191057.3.
            
            Summary: This gene encodes an enzyme that belongs to the
            3'5'-cyclic nucleotide phosphodiesterase family. Members of this
            family catalyze hydrolysis of the cyclic nucleotides, cyclic
            adenosine monophosphate and cyclic guanosine monophosphate, to the
            corresponding nucleoside 5'-monophosphates. The enzyme encoded by
            this gene regulates proliferation and migration of vascular smooth
            muscle cells, and neointimal hyperplasia. This enzyme also plays a
            role in pathological vascular remodeling by regulating the
            stability of growth factor receptors, such as PDGF-receptor-beta.
            [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and has
            multiple coding region differences, compared to variant 3. These
            differences result in an isoform (2) with a distinct N-terminus,
            compared to isoform 3. Variants 2 and 5 encode the same protein.
            Isoform 2 is also known as HCam-3A.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1660803.79439.1,
                                           SRR1803612.57300.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396191.6/ ENSP00000379494.1
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1696              AK056170.1         443-2138
            1697-1787           AC006377.3         61927-62017         c
            1788-2501           AK056170.1         2230-2943
            2502-3014           AC007093.3         25459-25971         c
            3015-3482           HY125708.1         1-468
            3483-3606           AI301181.1         62-185
            3607-4175           CB135276.1         98-666
            4176-4349           AI168057.1         5-178               c
FEATURES             Location/Qualifiers
     source          1..4349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..4349
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /note="phosphodiesterase 1C"
                     /db_xref="GeneID:5137"
                     /db_xref="HGNC:HGNC:8776"
                     /db_xref="MIM:602987"
     exon            1..115
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..2144
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /EC_number="3.1.4.17"
                     /note="isoform 2 is encoded by transcript variant 2;
                     calcium/calmodulin-dependent 3',5'-cyclic nucleotide
                     phosphodiesterase 1C; Human 3',5' cyclic nucleotide
                     phosphodiesterase (HSPDE1C1A); phosphodiesterase 1C,
                     calmodulin-dependent 70kDa; 3',5'-cyclic-AMP
                     phosphodiesterase; 3',5'-cyclic-GMP phosphodiesterase;
                     dual specificity Calcium/calmodulin-dependent 3',5'-cyclic
                     nucleotide phosphodiesterase 1C"
                     /codon_start=1
                     /product="dual specificity calcium/calmodulin-dependent
                     3',5'-cyclic nucleotide phosphodiesterase 1C isoform 2"
                     /protein_id="NP_001177986.1"
                     /db_xref="CCDS:CCDS55099.1"
                     /db_xref="GeneID:5137"
                     /db_xref="HGNC:HGNC:8776"
                     /db_xref="MIM:602987"
                     /translation="MESPTKEIEEFESNSLKYLQPEQIEKIWLRLRGLRKYKKTSQRL
                     RSLVKQLERGEASVVDLKKNLEYAATVLESVYIDETRRLLDTEDELSDIQSDAVPSEV
                     RDWLASTFTRQMGMMLRRSDEKPRFKSIVHAVQAGIFVERMYRRTSNMVGLSYPPAVI
                     EALKDVDKWSFDVFSLNEASGDHALKFIFYELLTRYDLISRFKIPISALVSFVEALEV
                     GYSKHKNPYHNLMHAADVTQTVHYLLYKTGVANWLTELEIFAIIFSAAIHDYEHTGTT
                     NNFHIQTRSDPAILYNDRSVLENHHLSAAYRLLQDDEEMNILINLSKDDWREFRTLVI
                     EMVMATDMSCHFQQIKAMKTALQQPEAIEKPKALSLMLHTADISHPAKAWDLHHRWTM
                     SLLEEFFRQGDREAELGLPFSPLCDRKSTMVAQSQVGFIDFIVEPTFTVLTDMTEKIV
                     SPLIDETSQTGGTGQRRSSLNSISSSDAKRSGVKTSGSEGSAPINNSVISVDYKSFKA
                     TWTEVVHINRERWRAKVPKEEKAKKEAEEKARLAAEEQQKEMEAKSQAEEGASGKAEK
                     KTSGETKNQVNGTRANKSDNPRGKNSKAEKSSGEQQQNGDFKDGKNKTDKKDHSNIGN
                     DSKKTDGTKQRSHGSPAPSTSSTCRLTLPVIKPPLRHFKRPAYASSSYAPSVSKKTDE
                     HPARYKMLDQRIKMKKIQNISHNWNRK"
     exon            116..142
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            143..256
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            257..439
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            440..506
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            507..623
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            624..764
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            765..865
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            866..994
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1096
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1217
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1299
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1420
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1596
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..1827
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            1828..1905
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..1974
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     exon            1975..4349
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4327..4332
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /note="hexamer: AATAAA"
     polyA_site      4349
                     /gene="PDE1C"
                     /gene_synonym="cam-PDE 1C; DFNA74; hCam-3; Hcam3"
                     /note="major polyA site"
ORIGIN      
        1 acctacctgc agctatggag tcgccaacca aggagattga agaatttgag agcaactctc
       61 tgaaatacct gcaaccggaa cagatcgaga aaatctggct tcggctccgc gggctgagga
      121 aatataagaa aacgtcccag agattacggt ctttggtcaa acaattagag agaggggaag
      181 cttcagtggt agatcttaag aagaatttgg aatatgcagc cacagtgctt gaatctgtgt
      241 atattgatga aacaaggaga ctcctggata cagaggatga gctcagtgac attcagtcag
      301 atgctgtgcc ttctgaggtc cgagactggc tggcctccac cttcacgcgg cagatgggga
      361 tgatgctcag gaggagcgac gagaagcccc ggttcaagag catcgttcac gcagtgcagg
      421 ctgggatatt tgtggagaga atgtatagac ggacatcaaa catggttgga ctgagctatc
      481 caccagctgt tattgaggca ttaaaggatg tggacaagtg gtcctttgac gtcttttccc
      541 tcaatgaggc cagtggggat catgcactga aatttatttt ctatgaacta ctcacacgtt
      601 atgatctgat cagccgtttc aagatcccca tttctgcact tgtctcattt gtggaggccc
      661 tggaagtggg atacagcaag cacaaaaatc cttaccataa cttaatgcac gctgccgatg
      721 ttacacagac agtgcattac ctcctctata agacaggagt ggcgaactgg ctgacggagc
      781 tggagatctt tgctataatc ttctcagctg ccatccatga ctacgagcat accggaacca
      841 ccaacaattt ccacattcag actcggtctg atccagctat tctgtataat gacagatctg
      901 tactggagaa tcaccattta agtgcagctt atcgccttct gcaagatgac gaggaaatga
      961 atattttgat taacctctca aaggatgact ggagggagtt tcgaaccttg gtaattgaaa
     1021 tggtgatggc cacagatatg tcttgtcact tccaacaaat caaagcaatg aagactgctc
     1081 tgcagcagcc agaagccatt gaaaagccaa aagccttatc ccttatgctg catacagcag
     1141 atattagcca tccagcaaaa gcatgggacc tccatcatcg ctggacaatg tcactcctgg
     1201 aggagttctt cagacagggt gacagagaag cagagctggg gctgcctttt tctcctctgt
     1261 gtgaccgaaa gtccactatg gttgctcagt cacaagtagg tttcattgat ttcatcgtgg
     1321 aacccacctt cactgtgctt acggacatga ccgagaagat tgtgagtcca ttaatcgatg
     1381 aaacctctca aactggtggg acaggacaga ggcgttcgag tttgaatagc atcagctcgt
     1441 cagatgccaa gcgatcaggt gtcaagacct ctggttcaga gggaagtgcc ccgatcaaca
     1501 attctgtcat ctccgttgac tataagagct ttaaagctac ttggacggaa gtggtgcaca
     1561 tcaatcggga gagatggagg gccaaggtac ccaaagagga gaaggccaag aaggaagcag
     1621 aggaaaaggc tcgcctggcc gcagaggagc agcaaaagga aatggaagcc aaaagccagg
     1681 ctgaagaagg cgcatctggc aaagctgaga aaaagacgtc tggagaaact aagaatcaag
     1741 tcaatggaac acgggcaaac aaaagtgaca accctcgtgg gaaaaactcc aaagccgaga
     1801 agtcatcagg agaacagcaa cagaatggtg acttcaaaga tggtaaaaat aagacagaca
     1861 agaaggatca ctctaacatc ggaaatgatt caaagaaaac agatggcaca aaacagcgtt
     1921 ctcacggctc accagcccca agcaccagct ccacgtgtcg ccttacgttg ccagtcatca
     1981 agcctccttt gcgtcatttt aaacgccctg cttacgcatc tagctcctat gcaccttcag
     2041 tctcaaagaa aactgatgag catcctgcaa ggtacaagat gctggatcag aggatcaaaa
     2101 tgaaaaagat tcagaacatc tcacataact ggaacagaaa ataggccgag gggaagaaga
     2161 gagggagtga aggagggtct acctatctgc ttctcagcac ccactggcca cagcaggaca
     2221 cacctccaag acccttggag gctgttggag caggtactat cctggttgac tccaccaagg
     2281 tgaaatgaaa gttgtatgtg attttcctct ttgttgttct tgtatagact tttcaattgc
     2341 tgtatgtggg atcagcccag acgccagcaa caaactagca agaggggtgt ttttatggta
     2401 taagtctcta aaagtctaaa ttggaccaaa attaaaatga cacaaactta aaaaaaaata
     2461 aaattcctct cattgccact tttttcaatc tctaaaagtt agttgccccc aaaagaatat
     2521 tggtttaata atcatcatat ttaagaaatg cactgataaa aacatatttt ccaattttaa
     2581 atacacctat ttaaaatgta aatacactta tttaaaattc aagtaaatat gtaactatca
     2641 aagtaaatgt attcaaaaca gaagttgtgc ttctgaatgt aaaaatatta aaaggaagag
     2701 aagacggatg aattgttgta ttcatggaca tttcagaatt cacgcttata aagcaaatcc
     2761 aagttaaaaa acaaaaaaag atttttgtgc ctcatgaaga ttgtgcctca tgcccaataa
     2821 cctcatgtac tttgaaggat gtgaaggttt gcaagagatg catttggctt cattttcctc
     2881 taatctttta cttctaccca cagtagatga tacaaaaaat cttgccttaa agactgcagg
     2941 tttaagagtc attgcaaaag atgtcagttt gattttgtgg tcctaggcca agagggtgta
     3001 aaattctgag cctagtttaa attctttatt ttcagattgt tctggactga aaataaagaa
     3061 tttaaactag gctagagatg cctttaagtt acatttcaga tcctcttcac agcacgctac
     3121 atatctaaag cccttgagat cctgattgtt ctcacagttg ttggtggaat ccatagtttt
     3181 ataactcacc tctttttatg gtggcattgt tagcccttct gtgtctctcc ctaggatttt
     3241 taattcagga ctaaaatcac agaagtagca aggaaaggct caagactaga gatagctttc
     3301 aatctcttca gaaatagcct ggtgcagtga gaaaactagg tttgttttca ggccagtctg
     3361 atcttcatcc tattctgtct ataactagtt gcaggtcctt gctcggatgg cataattttt
     3421 tgatgcctcc atttgcttaa ctagaaacta ggattcatat acacactctg cactttgtat
     3481 tgaagattaa tgataatgta ggttttggtt gctgtggctg agcctggcca gtaataggtg
     3541 cataacagaa gtagctaaga gcatttcata atcaggatga actctccagg acagccctac
     3601 aaagaaggag ctgtttgttc ccggatggcc tcgaccttcc aggcttgatt gtaaagagtt
     3661 tagtgtcctc tccttctctc attccctgca gttcatttcc aataaactgc agttattcaa
     3721 gttgagcaag ttccggaatt tagtgcctac catgctattg ggcagtttat ttataatgtg
     3781 ctttatgatg atacttcaga gaaatttaat tgctatacaa aaagacgaat cattgtgact
     3841 tttcgttaag gaggcgattg caattctttg ctccctgcct ggtgtctggg ttagaaggcc
     3901 cttctgcagg ctggtagtgt ctgttccacc tggattaggt taactcaaca ggtaattcct
     3961 atctgtttat acacagatgc tttagcgctt gctgtacaaa gtcatttggc tacacactga
     4021 ggaggcccat gggagtagta gcctcctcaa ataatgttcc ctacctatct gtcaatacct
     4081 tccatcttag gtattgagaa tttaatgagg ctgtgttttc ttggctgtgc ttcttgatgt
     4141 tggaagccat gttcctgggg aacaaatctg tattcttttc tcctaagatg tgagtttttt
     4201 tcaacctttg ctaatatttt aatggagcaa atgtacagat gttgagattt tgcactgctt
     4261 ataaaatgcc taccatgttt tttgcataat ggattgtata gaaatgcaga ttatattctt
     4321 acagcaaata aaaagatgct tttaacaga
//
