LOCUS       NM_006205                727 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens phosphodiesterase 6H (PDE6H), mRNA.
ACCESSION   NM_006205
VERSION     NM_006205.3
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 727)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 727)
  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   3  (bases 1 to 727)
  AUTHORS   Kohl,S., Coppieters,F., Meire,F., Schaich,S., Roosing,S.,
            Brennenstuhl,C., Bolz,S., van Genderen,M.M., Riemslag,F.C.,
            Lukowski,R., den Hollander,A.I., Cremers,F.P., De Baere,E.,
            Hoyng,C.B. and Wissinger,B.
  CONSRTM   European Retinal Disease Consortium
  TITLE     A nonsense mutation in PDE6H causes autosomal-recessive incomplete
            achromatopsia
  JOURNAL   Am J Hum Genet 91 (3), 527-532 (2012)
   PUBMED   22901948
  REMARK    GeneRIF: These findings add PDE6H to the set of genes involved in
            autosomal-recessive cone disorders and demonstrate the importance
            of the inhibitory gamma subunit in cone phototransduction
REFERENCE   4  (bases 1 to 727)
  AUTHORS   Roni,V., Carpio,R. and Wissinger,B.
  TITLE     Mapping of transcription start sites of human retina expressed
            genes
  JOURNAL   BMC Genomics 8, 42 (2007)
   PUBMED   17286855
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 727)
  AUTHORS   Piri,N., Gao,Y.Q., Danciger,M., Mendoza,E., Fishman,G.A. and
            Farber,D.B.
  TITLE     A substitution of G to C in the cone cGMP-phosphodiesterase gamma
            subunit gene found in a distinctive form of cone dystrophy
  JOURNAL   Ophthalmology 112 (1), 159-166 (2005)
   PUBMED   15629837
  REMARK    GeneRIF: Our results indicate that mutations in the PDE6H gene are
            not common, because only 1 of 240 patients with cone dystrophy
            showed a single nucleotide substitution in the 5' UTR of PDE6H mRNA
REFERENCE   6  (bases 1 to 727)
  AUTHORS   Kajimura,N., Yamazaki,M., Morikawa,K., Yamazaki,A. and Mayanagi,K.
  TITLE     Three-dimensional structure of non-activated cGMP phosphodiesterase
            6 and comparison of its image with those of activated forms
  JOURNAL   J Struct Biol 139 (1), 27-38 (2002)
   PUBMED   12372317
REFERENCE   7  (bases 1 to 727)
  AUTHORS   Shimizu-Matsumoto,A., Itoh,K., Inazawa,J., Nishida,K.,
            Matsumoto,Y., Kinoshita,S., Matsubara,K. and Okubo,K.
  TITLE     Isolation and chromosomal localization of the human cone cGMP
            phosphodiesterase gamma cDNA (PDE6H)
  JOURNAL   Genomics 32 (1), 121-124 (1996)
   PUBMED   8786098
REFERENCE   8  (bases 1 to 727)
  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
REFERENCE   9  (bases 1 to 727)
  AUTHORS   Hamilton,S.E. and Hurley,J.B.
  TITLE     A phosphodiesterase inhibitor specific to a subset of bovine
            retinal cones
  JOURNAL   J Biol Chem 265 (19), 11259-11264 (1990)
   PUBMED   2162841
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from EL946662.1, D45399.1 and
            BU729922.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006205.2.
            
            Summary: This gene encodes the inhibitory (or gamma) subunit of the
            cone-specific cGMP phosphodiesterase, which is a tetramer composed
            of two catalytic chains (alpha and beta), and two inhibitory chains
            (gamma). It is specifically expressed in the retina, and is
            involved in the transmission and amplification of the visual
            signal. Mutations in this gene are associated with retinal cone
            dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: D45399.1, EL953697.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266395.3/ ENSP00000266395.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                EL946662.1         25-51
            28-726              D45399.1           26-724
            727-727             BU729922.1         17-17               c
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.3"
     gene            1..727
                     /gene="PDE6H"
                     /gene_synonym="ACHM6; RCD3"
                     /note="phosphodiesterase 6H"
                     /db_xref="GeneID:5149"
                     /db_xref="HGNC:HGNC:8790"
                     /db_xref="MIM:601190"
     exon            1..45
                     /gene="PDE6H"
                     /gene_synonym="ACHM6; RCD3"
                     /inference="alignment:Splign:2.1.0"
     exon            46..220
                     /gene="PDE6H"
                     /gene_synonym="ACHM6; RCD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..338
                     /gene="PDE6H"
                     /gene_synonym="ACHM6; RCD3"
                     /EC_number="3.1.4.35"
                     /note="GMP-PDE gamma; phosphodiesterase 6H, cGMP-specific,
                     cone, gamma"
                     /codon_start=1
                     /product="retinal cone rhodopsin-sensitive cGMP
                     3',5'-cyclic phosphodiesterase subunit gamma"
                     /protein_id="NP_006196.1"
                     /db_xref="CCDS:CCDS8672.1"
                     /db_xref="GeneID:5149"
                     /db_xref="HGNC:HGNC:8790"
                     /db_xref="MIM:601190"
                     /translation="MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVK
                     GFGDDIPGMEGLGTDITVICPWEAFSHLELHELAQFGII"
     exon            221..261
                     /gene="PDE6H"
                     /gene_synonym="ACHM6; RCD3"
                     /inference="alignment:Splign:2.1.0"
     exon            262..727
                     /gene="PDE6H"
                     /gene_synonym="ACHM6; RCD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      704..709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE6H"
                     /gene_synonym="ACHM6; RCD3"
                     /note="hexamer: AATAAA"
     polyA_site      727
                     /gene="PDE6H"
                     /gene_synonym="ACHM6; RCD3"
                     /note="major polyA site"
ORIGIN      
        1 gcaaagaagg cagctgggca gctgatagga acaacattca gctccgaggc tgaaagggaa
       61 acatcagccg cccgggggga gttaaaatga gtgacaacac tactctgcct gctccagctt
      121 caaaccaggg tcctaccacc ccacgcaaag gccctcccaa gttcaagcag aggcagactc
      181 gccaattcaa gagtaaacct ccaaagaaag gtgtgaaagg atttggagat gacattccag
      241 gaatggaggg gctaggaaca gatatcacag tgatttgtcc atgggaggca ttcagccacc
      301 tggaattgca tgagctcgct cagtttggga ttatctgaag tgccagaggt tctgccactc
      361 tcaatgacat ctgctgtaat tttggttgct tttgccctgt tgatctgccg gagtcttgaa
      421 attcagctga ttggaagtgg tttctttgac tttcaaggtc attccctatc agttactact
      481 aagagttctc ttactgtcag aatctctctt gcagtacagc tcaaaatagt ggatgcattt
      541 caaacttgac caccttttcc taccagctag ttagaagtca tcaatatttc tctacatttt
      601 gtttatctgt aagtccttta aatctatttt tgctaggcat tcattatgat taatagtaga
      661 cttttaagac aacatttatg tcactcccca cctcctcata tttaataaag gagatattta
      721 ccttgaa
//
