LOCUS       NM_006204               3358 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens phosphodiesterase 6C (PDE6C), mRNA.
ACCESSION   NM_006204
VERSION     NM_006204.4
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 3358)
  AUTHORS   Nouri,Z., Sarmadi,A., Narrei,S., Kianersi,H., Kianersi,F. and
            Tabatabaiefar,M.A.
  TITLE     Clinical characterizations and molecular genetic study of two
            co-segregating variants in PDZD7 and PDE6C genes leading
            simultaneously to non-syndromic hearing loss and achromatopsia
  JOURNAL   BMC Med Genomics 17 (1), 173 (2024)
   PUBMED   38956522
  REMARK    GeneRIF: Clinical characterizations and molecular genetic study of
            two co-segregating variants in PDZD7 and PDE6C genes leading
            simultaneously to non-syndromic hearing loss and achromatopsia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3358)
  AUTHORS   Singh,S., Srivastava,D., Boyd,K. and Artemyev,N.O.
  TITLE     Reconstitution of the phosphodiesterase 6 maturation process
            important for photoreceptor cell function
  JOURNAL   J Biol Chem 300 (1), 105576 (2024)
   PUBMED   38110033
  REMARK    GeneRIF: Reconstitution of the phosphodiesterase 6 maturation
            process important for photoreceptor cell function.
REFERENCE   3  (bases 1 to 3358)
  AUTHORS   Bachu,V.S., Kandoi,S., Park,K.U., Kaufman,M.L., Schwanke,M.,
            Lamba,D.A. and Brzezinski,J.A. 4th.
  TITLE     An enhancer located in a Pde6c intron drives transient expression
            in the cone photoreceptors of developing mouse and human retinas
  JOURNAL   Dev Biol 488, 131-150 (2022)
   PUBMED   35644251
  REMARK    GeneRIF: An enhancer located in a Pde6c intron drives transient
            expression in the cone photoreceptors of developing mouse and human
            retinas.
REFERENCE   4  (bases 1 to 3358)
  AUTHORS   Yuan,S., Qi,R., Fang,X., Wang,X., Zhou,L. and Sheng,X.
  TITLE     Two novel PDE6C gene mutations in Chinese family with achromatopsia
  JOURNAL   Ophthalmic Genet 41 (6), 591-598 (2020)
   PUBMED   32787476
  REMARK    GeneRIF: Two novel PDE6C gene mutations in Chinese family with
            achromatopsia.
REFERENCE   5  (bases 1 to 3358)
  AUTHORS   Daich Varela,M., Ullah,E., Yousaf,S., Brooks,B.P., Hufnagel,R.B.
            and Huryn,L.A.
  TITLE     PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among
            Children and Adults
  JOURNAL   Invest Ophthalmol Vis Sci 61 (12), 1 (2020)
   PUBMED   33001157
  REMARK    GeneRIF: PDE6C: Novel Mutations, Atypical Phenotype, and
            Differences Among Children and Adults.
REFERENCE   6  (bases 1 to 3358)
  AUTHORS   Gao,Y.Q., Danciger,M., Longmuir,R., Piriev,N.I., Zhao,D.Y.,
            Heckenlively,J.R., Fishman,G.A., Weleber,R.G., Jacobson,S.G.,
            Stone,E.M. and Farber,D.B.
  TITLE     Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE
            in patients with retinal degenerations
  JOURNAL   Invest Ophthalmol Vis Sci 40 (8), 1818-1822 (1999)
   PUBMED   10393054
REFERENCE   7  (bases 1 to 3358)
  AUTHORS   Feshchenko,E.A., Andreeva,S.G., Suslova,V.A., Smirnova,E.V.,
            Zagranichny,V.E. and Lipkin,V.M.
  TITLE     Human cone-specific cGMP phosphodiesterase alpha' subunit: complete
            cDNA sequence and gene arrangement
  JOURNAL   FEBS Lett 381 (1-2), 149-152 (1996)
   PUBMED   8641425
REFERENCE   8  (bases 1 to 3358)
  AUTHORS   Viczian,A.S., Piriev,N.I. and Farber,D.B.
  TITLE     Isolation and characterization of a cDNA encoding the alpha'
            subunit of human cone cGMP-phosphodiesterase
  JOURNAL   Gene 166 (2), 205-211 (1995)
   PUBMED   8543163
REFERENCE   9  (bases 1 to 3358)
  AUTHORS   Piriev,N.I., Viczian,A.S., Ye,J., Kerner,B., Korenberg,J.R. and
            Farber,D.B.
  TITLE     Gene structure and amino acid sequence of the human cone
            photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its
            chromosomal localization to 10q24
  JOURNAL   Genomics 28 (3), 429-435 (1995)
   PUBMED   7490077
REFERENCE   10 (bases 1 to 3358)
  AUTHORS   Kohl,S., Jagle,H., Wissinger,B. and Zobor,D.
  TITLE     Achromatopsia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301591
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356214.20, U31973.1,
            BG206143.1, BG220856.1 and AL157396.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006204.3.
            
            Summary: This gene encodes the alpha-prime subunit of cone
            phosphodiesterase, which is composed of a homodimer of two
            alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa.
            Mutations in this gene are associated with cone dystrophy type 4
            (COD4). [provided by RefSeq, Mar 2010].
            
            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 :: U31973.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2154405,
                                           SAMN03267781 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371447.4/ ENSP00000360502.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                AL356214.20        128687-128737
            52-440              U31973.1           1-389
            441-441             AL356214.20        129127-129127
            442-535             U31973.1           391-484
            536-537             AL356214.20        129222-129223
            538-1306            U31973.1           487-1255
            1307-1307           AL356214.20        145454-145454
            1308-1579           U31973.1           1257-1528
            1580-1580           AL356214.20        151768-151768
            1581-1882           U31973.1           1530-1831
            1883-2221           BG206143.1         285-623
            2222-3007           U31973.1           2171-2956
            3008-3021           BG220856.1         458-471
            3022-3358           AL157396.9         17960-18296
FEATURES             Location/Qualifiers
     source          1..3358
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..3358
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /note="phosphodiesterase 6C"
                     /db_xref="GeneID:5146"
                     /db_xref="HGNC:HGNC:8787"
                     /db_xref="MIM:600827"
     exon            1..669
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..2766
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /EC_number="3.1.4.35"
                     /note="cGMP phosphodiesterase 6C; phosphodiesterase 6C,
                     cGMP-specific, cone, alpha prime"
                     /codon_start=1
                     /product="cone cGMP-specific 3',5'-cyclic
                     phosphodiesterase subunit alpha'"
                     /protein_id="NP_006195.3"
                     /db_xref="CCDS:CCDS7429.1"
                     /db_xref="GeneID:5146"
                     /db_xref="HGNC:HGNC:8787"
                     /db_xref="MIM:600827"
                     /translation="MGEINQVAVEKYLEENPQFAKEYFDRKLRVEVLGEIFKNSQVPV
                     QSSMSFSELTQVEESALCLELLWTVQEEGGTPEQGVHRALQRLAHLLQADRCSMFLCR
                     SRNGIPEVASRLLDVTPTSKFEDNLVGPDKEVVFPLDIGIVGWAAHTKKTHNVPDVKK
                     NSHFSDFMDKQTGYVTKNLLATPIVVGKEVLAVIMAVNKVNASEFSKQDEEVFSKYLN
                     FVSIILRLHHTSYMYNIESRRSQILMWSANKVFEELTDVERQFHKALYTVRSYLNCER
                     YSIGLLDMTKEKEFYDEWPIKLGEVEPYKGPKTPDGREVNFYKIIDYILHGKEEIKVI
                     PTPPADHWTLISGLPTYVAENGFICNMMNAPADEYFTFQKGPVDETGWVIKNVLSLPI
                     VNKKEDIVGVATFYNRKDGKPFDEHDEYITETLTQFLGWSLLNTDTYDKMNKLENRKD
                     IAQEMLMNQTKATPEEIKSILKFQEKLNVDVIDDCEEKQLVAILKEDLPDPRSAELYE
                     FRFSDFPLTEHGLIKCGIRLFFEINVVEKFKVPVEVLTRWMYTVRKGYRAVTYHNWRH
                     GFNVGQTMFTLLMTGRLKKYYTDLEAFAMLAAAFCHDIDHRGTNNLYQMKSTSPLARL
                     HGSSILERHHLEYSKTLLQDESLNIFQNLNKRQFETVIHLFEVAIIATDLALYFKKRT
                     MFQKIVDACEQMQTEEEAIKYVTVDPTKKEIIMAMMMTACDLSAITKPWEVQSQVALM
                     VANEFWEQGDLERTVLQQQPIPMMDRNKRDELPKLQVGFIDFVCTFVYKEFSRFHKEI
                     TPMLSGLQNNRVEWKSLADEYDAKMKVIEEEAKKQEGGAEKAAEDSGGGDDKKSKTCL
                     ML"
     exon            670..822
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            823..912
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            913..1053
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1128
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1129..1193
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1260
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1308
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1458
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1602
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1603..1671
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1672..1818
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..1926
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1927..2036
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2037..2124
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2125..2225
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2226..2333
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2334..2397
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2398..2472
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2473..2556
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2557..2707
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2708..3358
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gtcacatccc aagagttaca ggcagtttga aagctctgct ttctgcttga cctttggaag
       61 tcctatgagg gaccatttac ggtttcctca gtaatttcca ccaggatgaa tttccttctc
      121 atcactctgc ctcaggtagt gctctgaagg tcgtcctttc tgaacaaacg cagcaaagca
      181 agccacacca tgggtgagat caaccaagtt gccgtggaga aatacctgga ggagaaccct
      241 cagtttgcca aggagtactt tgacaggaag ttgcgggtgg aggtgctggg agaaatcttc
      301 aagaacagcc aggtgccagt ccagtccagc atgtccttct ctgagctgac ccaggtggag
      361 gagtcagccc tgtgcttgga gctgctgtgg accgtgcagg aggagggggg caccccagag
      421 cagggggttc acagggccct gcagaggctg gcccacctgc tccaggctga ccgctgcagc
      481 atgttcctgt gccggtcccg gaacggcata cctgaggtgg cctctaggtt gctggatgtc
      541 acccccacct ccaagtttga ggacaacctg gtgggccctg acaaagaagt tgtgtttcca
      601 ttggacattg ggatagtggg ttgggctgct cacacgaaga aaactcataa tgtcccagat
      661 gtgaaaaaga acagccattt ttctgacttc atggacaagc aaactgggta tgtcactaag
      721 aacctgctgg caaccccgat cgtggtgggc aaggaggttc ttgctgtgat catggcagtt
      781 aacaaagtaa atgcatctga attttccaaa caggatgaag aggtcttttc caaatacctc
      841 aactttgtgt ctatcatcct aaggcttcat cacaccagct acatgtacaa tattgaatcc
      901 cgaagaagcc agatccttat gtggtcagcc aataaagtat ttgaagaact cacagatgtt
      961 gagcgacagt ttcacaaagc gctctacacg gttagatcat atctgaactg tgaacgatac
     1021 tccattggac tgctggacat gaccaaggag aaggaattct acgatgaatg gccaatcaag
     1081 cttggagaag tagagcctta taaaggtcca aagacacctg atggcaggga agtcaacttt
     1141 tataaaatca ttgattacat tttacatgga aaagaagaga tcaaagtgat tccgacgcct
     1201 cctgcagacc actggacact cattagtggg ttgccaacat atgttgctga aaatggattt
     1261 atctgtaaca tgatgaatgc ccctgcggat gaatacttca catttcagaa aggacctgta
     1321 gacgaaactg gttgggtcat taagaatgtt ttgtccctgc ctattgtcaa caagaaagaa
     1381 gatattgtgg gagtggctac attttacaac aggaaggatg gaaaaccttt cgatgagcat
     1441 gatgaataca ttaccgagac tctcacacaa tttcttggat ggtctctttt aaatactgac
     1501 acctacgata agatgaataa gctagaaaac agaaaggaca ttgctcagga aatgctcatg
     1561 aaccaaacca aagccactcc tgaagaaatt aagtccattt tgaaatttca agagaagtta
     1621 aatgttgatg taattgacga ctgtgaagaa aaacaacttg ttgcaatttt gaaagaggac
     1681 ttgccagacc cacgctcagc agaactgtac gaattccgct tcagtgactt cccccttaca
     1741 gagcacggat tgattaaatg tggaatacga ctgttttttg aaataaatgt ggtggagaaa
     1801 ttcaaagtac ctgtagaggt tcttaccaga tggatgtaca ctgtgaggaa agggtaccga
     1861 gctgtcactt accacaattg gcggcatggg ttcaacgtgg ggcagaccat gtttactttg
     1921 ctgatgacag gaagattaaa gaagtactac acagatctcg aagcctttgc catgcttgct
     1981 gctgctttct gccatgatat tgaccacaga ggcaccaata atttgtacca gatgaaatcc
     2041 acgtctccat tagcaagact tcatggttct tctattttgg agaggcacca cctggagtac
     2101 agtaagactc tgttgcagga tgagagttta aacatcttcc agaacctaaa taagcggcag
     2161 tttgaaacag ttattcattt gttcgaggtc gcaataatag caactgacct ggctttatat
     2221 ttcaagaaga ggaccatgtt tcaaaaaatt gttgatgcct gtgaacaaat gcaaacggaa
     2281 gaagaagcca tcaaatatgt aactgttgat ccaaccaaga aagagattat catggcaatg
     2341 atgatgacgg catgtgactt gtctgctatt accaagccct gggaggtgca aagtcaggta
     2401 gcacttatgg ttgcaaatga attttgggaa caaggagatc tggagagaac agtgttgcag
     2461 caacaaccca ttcctatgat ggacagaaac aaaagagatg aattacctaa acttcaagtt
     2521 ggatttattg attttgtttg tacttttgta tataaggagt tctcacggtt tcacaaagaa
     2581 atcacaccta tgctgagtgg tcttcagaat aacagagtag aatggaaatc actagctgat
     2641 gagtatgatg caaagatgaa ggtcattgaa gaggaggcaa aaaagcaaga aggaggagcc
     2701 gaaaaagctg ctgaagattc aggaggtggt gatgacaaaa agtccaaaac atgtttaatg
     2761 ttgtaatatt atctaactgg tctaaacttc aaatatcatt ttacctttga agaaaaccag
     2821 aaaacattca aaagaacttc aacaaatcat cacgtaacag gatcttcaga aaaactaccc
     2881 tgtgactatg aagaaaatat atattgctag cccaaaaatc ccaggggcaa aataaagttc
     2941 aacaaaagtg caaaatatga caaaaatagg tacatttttg gtgccaattt attttaaatt
     3001 aaaaaatatg caatcctgaa actagtcaca aattcttttt taaaacatta attgtattta
     3061 tttgctaagg ctgctataac aaagtaccac agactgggtg cttaaccaat agaaatgtat
     3121 tttctcaaag tcctgggggc tggaagttca agatcaagga gttggcaggg ttggtttctt
     3181 gggaggcctc tcaacttggt ttgcagatgg ccatcttctc cctgtgtctt cacatggtct
     3241 tccctctgtg tgtctgtgtc ctaatctcct tttcttataa ggactccagt aggactggat
     3301 tagggcctac ccatgtgacc tcattttagt cttaattacc tcgttaatgg ccttatct
//
