LOCUS       NM_002601               1140 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens phosphodiesterase 6D (PDE6D), transcript variant 1,
            mRNA.
ACCESSION   NM_002601
VERSION     NM_002601.4
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 1140)
  AUTHORS   Faber,S., Letteboer,S.J.F., Junger,K., Butcher,R., Tammana,T.V.S.,
            van Beersum,S.E.C., Ueffing,M., Collin,R.W.J., Liu,Q., Boldt,K. and
            Roepman,R.
  TITLE     PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to
            Primary Cilia
  JOURNAL   Cells 12 (2), 312 (2023)
   PUBMED   36672247
  REMARK    GeneRIF: PDE6D Mediates Trafficking of Prenylated Proteins NIM1K
            and UBL3 to Primary Cilia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1140)
  AUTHORS   Canovas Nunes,S., De Vita,S., Anighoro,A., Autelitano,F.,
            Beaumont,E., Klingbeil,P., McGuinness,M., Duvert,B., Harris,C.,
            Yang,L., Pokharel,S.P., Chen,C.W., Ermann,M., Williams,D.A. and
            Xu,H.
  TITLE     Validation of a small molecule inhibitor of PDE6D-RAS interaction
            with favorable anti-leukemic effects
  JOURNAL   Blood Cancer J 12 (4), 64 (2022)
   PUBMED   35422065
  REMARK    GeneRIF: Validation of a small molecule inhibitor of PDE6D-RAS
            interaction with favorable anti-leukemic effects.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1140)
  AUTHORS   Thomas,S., Wright,K.J., Le Corre,S., Micalizzi,A., Romani,M.,
            Abhyankar,A., Saada,J., Perrault,I., Amiel,J., Litzler,J.,
            Filhol,E., Elkhartoufi,N., Kwong,M., Casanova,J.L., Boddaert,N.,
            Baehr,W., Lyonnet,S., Munnich,A., Burglen,L., Chassaing,N.,
            Encha-Ravazi,F., Vekemans,M., Gleeson,J.G., Valente,E.M.,
            Jackson,P.K., Drummond,I.A., Saunier,S. and Attie-Bitach,T.
  TITLE     A homozygous PDE6D mutation in Joubert syndrome impairs targeting
            of farnesylated INPP5E protein to the primary cilium
  JOURNAL   Hum Mutat 35 (1), 137-146 (2014)
   PUBMED   24166846
  REMARK    GeneRIF: Study identifies PDE6D as a novel Joubert syndrome gene
            and provides the first evidence of prenyl-binding-dependent
            trafficking in ciliopathies.
REFERENCE   4  (bases 1 to 1140)
  AUTHORS   Linari,M., Ueffing,M., Manson,F., Wright,A., Meitinger,T. and
            Becker,J.
  TITLE     The retinitis pigmentosa GTPase regulator, RPGR, interacts with the
            delta subunit of rod cyclic GMP phosphodiesterase
  JOURNAL   Proc Natl Acad Sci U S A 96 (4), 1315-1320 (1999)
   PUBMED   9990021
REFERENCE   5  (bases 1 to 1140)
  AUTHORS   Marzesco,A.M., Galli,T., Louvard,D. and Zahraoui,A.
  TITLE     The rod cGMP phosphodiesterase delta subunit dissociates the small
            GTPase Rab13 from membranes
  JOURNAL   J Biol Chem 273 (35), 22340-22345 (1998)
   PUBMED   9712853
REFERENCE   6  (bases 1 to 1140)
  AUTHORS   Lorenz,B., Migliaccio,C., Lichtner,P., Meyer,C., Strom,T.M.,
            D'Urso,M., Becker,J., Ciccodicola,A. and Meitinger,T.
  TITLE     Cloning and gene structure of the rod cGMP phosphodiesterase delta
            subunit gene (PDED) in man and mouse
  JOURNAL   Eur J Hum Genet 6 (3), 283-290 (1998)
   PUBMED   9781033
REFERENCE   7  (bases 1 to 1140)
  AUTHORS   Li,N., Florio,S.K., Pettenati,M.J., Rao,P.N., Beavo,J.A. and
            Baehr,W.
  TITLE     Characterization of human and mouse rod cGMP phosphodiesterase
            delta subunit (PDE6D) and chromosomal localization of the human
            gene
  JOURNAL   Genomics 49 (1), 76-82 (1998)
   PUBMED   9570951
REFERENCE   8  (bases 1 to 1140)
  AUTHORS   Ershova,G., Derre,J., Chetelin,S., Nancy,V., Berger,R., Kaplan,J.,
            Munnich,A. and de Gunzburg,J.
  TITLE     cDNA sequence, genomic organization and mapping of PDE6D, the human
            gene encoding the delta subunit of the cGMP phosphodiesterase of
            retinal rod cells to chromosome 2q36
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 139-141 (1997)
   PUBMED   9533031
REFERENCE   9  (bases 1 to 1140)
  AUTHORS   Florio,S.K., Prusti,R.K. and Beavo,J.A.
  TITLE     Solubilization of membrane-bound rod phosphodiesterase by the rod
            phosphodiesterase recombinant delta subunit
  JOURNAL   J Biol Chem 271 (39), 24036-24047 (1996)
   PUBMED   8798640
REFERENCE   10 (bases 1 to 1140)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY037751.1 and BC007831.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002601.3.
            
            Summary: This gene encodes the delta subunit of rod-specific
            photoreceptor phosphodiesterase (PDE), a key enzyme in the
            phototransduction cascade. A similar protein in cow functions in
            solubilizing membrane-bound PDE. In addition to its role in the PDE
            complex, the encoded protein is thought to bind to prenyl groups of
            proteins to target them to subcellular organelles called cilia.
            Mutations in this gene are associated with Joubert syndrome-22.
            Alternative splicing results in multiple splice variants. [provided
            by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC001054.2, BP329757.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287600.9/ ENSP00000287600.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                HY037751.1         47-65
            20-1140             BC007831.2         1-1121
FEATURES             Location/Qualifiers
     source          1..1140
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..1140
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /note="phosphodiesterase 6D"
                     /db_xref="GeneID:5147"
                     /db_xref="HGNC:HGNC:8788"
                     /db_xref="MIM:602676"
     exon            1..218
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /inference="alignment:Splign:2.1.0"
     CDS             169..621
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /EC_number="3.1.4.17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic
                     phosphodiesterase subunit delta; protein p17; GMP-PDE
                     delta; phosphodiesterase 6D, cGMP-specific, rod, delta"
                     /codon_start=1
                     /product="retinal rod rhodopsin-sensitive cGMP
                     3',5'-cyclic phosphodiesterase subunit delta isoform 1"
                     /protein_id="NP_002592.1"
                     /db_xref="CCDS:CCDS33398.1"
                     /db_xref="GeneID:5147"
                     /db_xref="HGNC:HGNC:8788"
                     /db_xref="MIM:602676"
                     /translation="MSAKDERAREILRGFKLNWMNLRDAETGKILWQGTEDLSVPGVE
                     HEARVPKKILKCKAVSRELNFSSTEQMEKFRLEQKVYFKGQCLEEWFFEFGFVIPNST
                     NTWQSLIEAAPESQMMPASVLTGNVIIETKFFDDDLLVSTSRVRLFYV"
     exon            219..307
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /inference="alignment:Splign:2.1.0"
     exon            308..433
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /inference="alignment:Splign:2.1.0"
     exon            434..539
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /inference="alignment:Splign:2.1.0"
     exon            540..1140
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1104..1109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /note="hexamer: ATTAAA"
     polyA_site      1140
                     /gene="PDE6D"
                     /gene_synonym="JBTS22; PDED"
                     /note="major polyA site"
ORIGIN      
        1 atcagaagcg ggagctgagg ggagagagag gccggtcctg gtctggccgc tgcggctgct
       61 agcccgaggt ctccaagccg ggctgcggct ccatcctcgg ctcctgggca ccgtctgcga
      121 ggctccgccg accagagtga gaaagccgcg ggcggcgacc gccgcatcat gtcagccaag
      181 gacgagcggg ccagggagat cctgaggggc ttcaaactaa attggatgaa ccttcgggat
      241 gctgagacag ggaagatact ctggcaagga acagaagacc tgtctgtccc tggtgtggag
      301 catgaagccc gtgttcccaa gaaaatcctc aagtgcaagg cagtgtctcg agaacttaat
      361 ttttcttcga cagaacaaat ggaaaaattc cgcctggaac aaaaagttta cttcaaaggg
      421 caatgcctag aagaatggtt cttcgagttt ggctttgtga tccctaactc cacaaatacc
      481 tggcagtcct tgatagaggc agcacccgag tcccagatga tgccagcaag cgtcttaact
      541 gggaacgtta tcatagaaac aaagtttttt gacgacgatc ttcttgtaag cacatccaga
      601 gtgagacttt tctatgtttg aaagaagaat gtgtgtacat ttcaagaatt tgggtttttt
      661 ggagggagga ggaaactgtt tacttttttc ctccacacgt ttgatttttg acacatacac
      721 ccctaattcc ctcaacagca gaacctacct gcagccacca ggggaccagc tctgtgtagg
      781 taaccagatg gctctttttc ccaagccacc atcttccagc tgaccagact aaactcccaa
      841 ccccagacca gggcagggga caggtctcaa gtccttccca gcatacacac agggaacaaa
      901 cacataccac aaaccggtaa ctgtacctgt caccctcctt gtctcctcct tgggccctac
      961 aggctacaca tctacctttg gcccctggtt ttggaaaaat tccgtgttcc tgacccatgt
     1021 ttagtttttt cctaccattt ctatttcata cattctcata catttaactt gtaaaataga
     1081 ctgtgatatt attacataat gtaattaaaa atatgaatta aaatattcct acagtcttta
//
