LOCUS       NM_002602                988 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens phosphodiesterase 6G (PDE6G), transcript variant 1,
            mRNA.
ACCESSION   NM_002602
VERSION     NM_002602.4
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 988)
  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 988)
  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 988)
  AUTHORS   Nikolova,S., Guenther,A., Savai,R., Weissmann,N., Ghofrani,H.A.,
            Konigshoff,M., Eickelberg,O., Klepetko,W., Voswinckel,R.,
            Seeger,W., Grimminger,F., Schermuly,R.T. and Pullamsetti,S.S.
  TITLE     Phosphodiesterase 6 subunits are expressed and altered in
            idiopathic pulmonary fibrosis
  JOURNAL   Respir Res 11 (1), 146 (2010)
   PUBMED   20979602
  REMARK    GeneRIF: Collectively, we report previously unrecognized PDE6
            expression in human lungs, significant alterations of the PDE6D and
            PDE6G/H subunits in IPF lungs.
            Erratum:[Respir Res. 2022 Jan 6;23(1):2. doi:
            10.1186/s12931-021-01907-5.. PMID: 34991577]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 988)
  AUTHORS   Dvir,L., Srour,G., Abu-Ras,R., Miller,B., Shalev,S.A. and
            Ben-Yosef,T.
  TITLE     Autosomal-recessive early-onset retinitis pigmentosa caused by a
            mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP
            phosphodiesterase
  JOURNAL   Am J Hum Genet 87 (2), 258-264 (2010)
   PUBMED   20655036
  REMARK    GeneRIF: These findings demonstrate the positive role of the gamma
            subunit in maintaining phosphodiesterase activity and confirm the
            contribution of PDE6G to the etiology of retinitis pigmentosa in
            humans.
REFERENCE   5  (bases 1 to 988)
  AUTHORS   Zhang,Z. and Artemyev,N.O.
  TITLE     Determinants for phosphodiesterase 6 inhibition by its
            gamma-subunit
  JOURNAL   Biochemistry 49 (18), 3862-3867 (2010)
   PUBMED   20397626
  REMARK    GeneRIF: The C-terminus of PED gamma occludes the active site of
            PDE6, thereby preventing hydrolysis of cGMP.
REFERENCE   6  (bases 1 to 988)
  AUTHORS   Piriev,N.I., Khramtsov,N.V. and Lipkin,V.M.
  TITLE     Cloning and characterization of the gene encoding the
            cGMP-phosphodiesterase gamma-subunit of human rod photoreceptor
            cells
  JOURNAL   Gene 151 (1-2), 297-301 (1994)
   PUBMED   7828894
REFERENCE   7  (bases 1 to 988)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   8  (bases 1 to 988)
  AUTHORS   Cotran,P.R., Bruns,G.A., Berson,E.L. and Dryja,T.P.
  TITLE     Genetic analysis of patients with retinitis pigmentosa using a
            cloned cDNA probe for the human gamma subunit of cyclic GMP
            phosphodiesterase
  JOURNAL   Exp Eye Res 53 (5), 557-564 (1991)
   PUBMED   1683837
REFERENCE   9  (bases 1 to 988)
  AUTHORS   Tuteja,N., Danciger,M., Klisak,I., Tuteja,R., Inana,G.,
            Mohandas,T., Sparkes,R.S. and Farber,D.B.
  TITLE     Isolation and characterization of cDNA encoding the gamma-subunit
            of cGMP phosphodiesterase in human retina
  JOURNAL   Gene 88 (2), 227-232 (1990)
   PUBMED   2161380
REFERENCE   10 (bases 1 to 988)
  AUTHORS   Piriev,N.I., Purishko,V.A., Khramtsov,N.V. and Lipkin,V.M.
  TITLE     [The organization of the gamma-subunit gene of human photoreceptor
            cyclic GMP phosphodiesterase]
  JOURNAL   Dokl Akad Nauk SSSR 315 (1), 229-231 (1990)
   PUBMED   1965799
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ639132.1, BC106884.2,
            AC139530.3 and BX647779.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002602.3.
            
            Summary: This gene encodes the gamma subunit of cyclic
            GMP-phosphodiesterase, which is composed of alpha- and beta-
            catalytic subunits and two identical, inhibitory gamma subunits.
            This gene is expressed in rod photoreceptors and functions in the
            phototransduction signaling cascade. It is also expressed in a
            variety of other tissues, and has been shown to regulate the c-Src
            protein kinase and G-protein-coupled receptor kinase 2. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Feb 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 3, and 4 all encode the same protein.
            
            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 :: BX537414.1, M36476.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149398 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331056.10/ ENSP00000328412.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BQ639132.1         36-43
            9-417               BC106884.2         1-409
            418-943             AC139530.3         78659-79184
            944-988             BX647779.1         768-812
FEATURES             Location/Qualifiers
     source          1..988
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..988
                     /gene="PDE6G"
                     /gene_synonym="PDEG; RP57"
                     /note="phosphodiesterase 6G"
                     /db_xref="GeneID:5148"
                     /db_xref="HGNC:HGNC:8789"
                     /db_xref="MIM:180073"
     exon            1..50
                     /gene="PDE6G"
                     /gene_synonym="PDEG; RP57"
                     /inference="alignment:Splign:2.1.0"
     exon            51..255
                     /gene="PDE6G"
                     /gene_synonym="PDEG; RP57"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..373
                     /gene="PDE6G"
                     /gene_synonym="PDEG; RP57"
                     /EC_number="3.1.4.35"
                     /note="rod cG-PDE G; GMP-PDE gamma; phosphodiesterase 6G,
                     cGMP-specific, rod, gamma"
                     /codon_start=1
                     /product="retinal rod rhodopsin-sensitive cGMP
                     3',5'-cyclic phosphodiesterase subunit gamma"
                     /protein_id="NP_002593.1"
                     /db_xref="CCDS:CCDS11783.1"
                     /db_xref="GeneID:5148"
                     /db_xref="HGNC:HGNC:8789"
                     /db_xref="MIM:180073"
                     /translation="MNLEPPKAEFRSATRVAGGPVTPRKGPPKFKQRQTRQFKSKPPK
                     KGVQGFGDDIPGMEGLGTDITVICPWEAFNHLELHELAQYGII"
     exon            256..296
                     /gene="PDE6G"
                     /gene_synonym="PDEG; RP57"
                     /inference="alignment:Splign:2.1.0"
     exon            297..988
                     /gene="PDE6G"
                     /gene_synonym="PDEG; RP57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      966..971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE6G"
                     /gene_synonym="PDEG; RP57"
                     /note="hexamer: AATAAA"
     polyA_site      988
                     /gene="PDE6G"
                     /gene_synonym="PDEG; RP57"
                     /note="major polyA site"
ORIGIN      
        1 gggaggccca gcactcacag cacagccccc tgagacccgc cctgcacttg accgcagcag
       61 gagggagtcc aggagccaag gttgccgcgg tgtctccgtc agcctcacca tgaacctgga
      121 accgcccaag gctgagttcc ggtcagccac cagggtggcc gggggacctg tcacccccag
      181 gaaagggccc cctaaattta agcagcgaca gaccaggcag ttcaagagca agcccccaaa
      241 gaaaggcgtt caagggtttg gggacgacat ccctggaatg gaaggcctgg gaacagacat
      301 cacagtcatc tgcccttggg aggccttcaa ccacctggag ctgcacgagc tggcccaata
      361 tggcatcatc tagcacgagg ccctgctgaa gtccagaccc tccccctcct gcccactgtg
      421 ctctaaaccc tgctcaggat tcctgttgag gagatgcctc cctagcccag atggcacctg
      481 gacaccagga tgggactgca acctcaggtc tccccctaca tattaatacc agtcaccagg
      541 agcccaccac ctccctctag gatgccccct caggggctgg ccaggccctg ctcaacatct
      601 ggagatacag gcccacccct cagtcctgcc cacagagagg cttggtcggt ctccactccc
      661 agggagaacg ggaagtggac cccagcccgg gagcctgctg gaccccagat cgtcccctcc
      721 tcccagctgg aaagctaggg caggtctccc cagagtgctt ctgcacccca gccccctgtc
      781 ctgcctgtaa ggggatacag agaagctccc cgtctctgca tcccttccca ggggggtgcc
      841 cttagtttgg acatgctggg tagcaggact ccagggcgtg cacggtgagc agatgaggcc
      901 ccaagctcat cacaccaggg ggccatcctt ctcaatacag cctgcccttg cagtccctat
      961 ttcaaaataa aattagtgtg tccttgcc
//
