LOCUS       NP_006195                858 aa            linear   PRI 27-APR-2025
DEFINITION  cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
            [Homo sapiens].
ACCESSION   NP_006195
VERSION     NP_006195.3
DBSOURCE    REFSEQ: accession 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  (residues 1 to 858)
  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  (residues 1 to 858)
  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  (residues 1 to 858)
  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  (residues 1 to 858)
  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  (residues 1 to 858)
  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  (residues 1 to 858)
  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  (residues 1 to 858)
  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  (residues 1 to 858)
  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  (residues 1 to 858)
  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 (residues 1 to 858)
  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 Sep 19, 2007 this sequence version replaced NP_006195.2.
            
            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##
FEATURES             Location/Qualifiers
     source          1..858
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     Protein         1..858
                     /product="cone cGMP-specific 3',5'-cyclic
                     phosphodiesterase subunit alpha'"
                     /EC_number="3.1.4.35"
                     /note="cGMP phosphodiesterase 6C; phosphodiesterase 6C,
                     cGMP-specific, cone, alpha prime"
                     /calculated_mol_wt=99016
     Region          80..231
                     /region_name="GAF"
                     /note="Domain present in phytochromes and cGMP-specific
                     phosphodiesterases; smart00065"
                     /db_xref="CDD:214500"
     Region          256..443
                     /region_name="GAF"
                     /note="Domain present in phytochromes and cGMP-specific
                     phosphodiesterases; smart00065"
                     /db_xref="CDD:214500"
     Region          561..805
                     /region_name="PDEase_I"
                     /note="3'5'-cyclic nucleotide phosphodiesterase;
                     pfam00233"
                     /db_xref="CDD:459723"
     Region          830..858
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P51160.2)"
     Site            855
                     /site_type="methylation"
                     /note="Cysteine methyl ester. /evidence=ECO:0000255;
                     propagated from UniProtKB/Swiss-Prot (P51160.2)"
     CDS             1..858
                     /gene="PDE6C"
                     /gene_synonym="ACHM5; COD4; PDEA2"
                     /coded_by="NM_006204.4:190..2766"
                     /db_xref="CCDS:CCDS7429.1"
                     /db_xref="GeneID:5146"
                     /db_xref="HGNC:HGNC:8787"
                     /db_xref="MIM:600827"
ORIGIN      
        1 mgeinqvave kyleenpqfa keyfdrklrv evlgeifkns qvpvqssmsf seltqveesa
       61 lclellwtvq eeggtpeqgv hralqrlahl lqadrcsmfl crsrngipev asrlldvtpt
      121 skfednlvgp dkevvfpldi givgwaahtk kthnvpdvkk nshfsdfmdk qtgyvtknll
      181 atpivvgkev lavimavnkv nasefskqde evfskylnfv siilrlhhts ymyniesrrs
      241 qilmwsankv feeltdverq fhkalytvrs ylncerysig lldmtkekef ydewpiklge
      301 vepykgpktp dgrevnfyki idyilhgkee ikviptppad hwtlisglpt yvaengficn
      361 mmnapadeyf tfqkgpvdet gwviknvlsl pivnkkediv gvatfynrkd gkpfdehdey
      421 itetltqflg wsllntdtyd kmnklenrkd iaqemlmnqt katpeeiksi lkfqeklnvd
      481 viddceekql vailkedlpd prsaelyefr fsdfpltehg likcgirlff einvvekfkv
      541 pvevltrwmy tvrkgyravt yhnwrhgfnv gqtmftllmt grlkkyytdl eafamlaaaf
      601 chdidhrgtn nlyqmkstsp larlhgssil erhhleyskt llqdeslnif qnlnkrqfet
      661 vihlfevaii atdlalyfkk rtmfqkivda ceqmqteeea ikyvtvdptk keiimammmt
      721 acdlsaitkp wevqsqvalm vanefweqgd lertvlqqqp ipmmdrnkrd elpklqvgfi
      781 dfvctfvyke fsrfhkeitp mlsglqnnrv ewksladeyd akmkvieeea kkqeggaeka
      841 aedsgggddk ksktclml
//
