LOCUS       NM_000283               3294 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens phosphodiesterase 6B (PDE6B), transcript variant 1,
            mRNA.
ACCESSION   NM_000283
VERSION     NM_000283.4
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 3294)
  AUTHORS   Aziz,N., Ullah,M., Rashid,A., Hussain,Z., Shah,K., Awan,A.,
            Khan,M., Ullah,I. and Rehman,A.U.
  TITLE     A novel homozygous missense substitution p.Thr313Ile in the PDE6B
            gene underlies autosomal recessive retinitis pigmentosa in a
            consanguineous Pakistani family
  JOURNAL   BMC Ophthalmol 23 (1), 116 (2023)
   PUBMED   36959549
  REMARK    GeneRIF: A novel homozygous missense substitution p.Thr313Ile in
            the PDE6B gene underlies autosomal recessive retinitis pigmentosa
            in a consanguineous Pakistani family.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3294)
  AUTHORS   Ullah,M., Rehman,A.U., Folcher,M., Ullah,A., Usman,F., Rashid,A.,
            Khan,B., Quinodoz,M., Ansar,M. and Rivolta,C.
  TITLE     A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive
            Retinitis Pigmentosa by Interfering with RNA Splicing
  JOURNAL   Ophthalmic Res 66 (1), 878-884 (2023)
   PUBMED   37094557
  REMARK    GeneRIF: A Novel Intronic Deletion in PDE6B Causes Autosomal
            Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.
REFERENCE   3  (bases 1 to 3294)
  AUTHORS   Sangermano,R., Biswas,P., Sullivan,L.S., Place,E.M., Borooah,S.,
            Straubhaar,J., Pierce,E.A., Daiger,S.P., Bujakowska,K.M. and
            Ayaggari,R.
  TITLE     Identification of a novel large multigene deletion and a frameshift
            indel in PDE6B as the underlying cause of early-onset recessive
            rod-cone degeneration
  JOURNAL   Cold Spring Harb Mol Case Stud 8 (7), a006247 (2022)
   PUBMED   36376065
  REMARK    GeneRIF: Identification of a novel large multigene deletion and a
            frameshift indel in PDE6B as the underlying cause of early-onset
            recessive rod-cone degeneration.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3294)
  AUTHORS   Li,Y., Li,R., Dai,H. and Li,G.
  TITLE     Novel variants in PDE6A and PDE6B genes and its phenotypes in
            patients with retinitis pigmentosa in Chinese families
  JOURNAL   BMC Ophthalmol 22 (1), 27 (2022)
   PUBMED   35033039
  REMARK    GeneRIF: Novel variants in PDE6A and PDE6B genes and its phenotypes
            in patients with retinitis pigmentosa in Chinese families.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3294)
  AUTHORS   Marconi,S. and Stout,J.T.
  TITLE     PDE6B Mutation-associated Inherited Retinal Disease
  JOURNAL   Int Ophthalmol Clin 61 (4), 133-142 (2021)
   PUBMED   34584050
  REMARK    GeneRIF: PDE6B Mutation-associated Inherited Retinal Disease.
REFERENCE   6  (bases 1 to 3294)
  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   7  (bases 1 to 3294)
  AUTHORS   Collins,C., Hutchinson,G., Kowbel,D., Riess,O., Weber,B. and
            Hayden,M.R.
  TITLE     The human beta-subunit of rod photoreceptor cGMP phosphodiesterase:
            complete retinal cDNA sequence and evidence for expression in brain
  JOURNAL   Genomics 13 (3), 698-704 (1992)
   PUBMED   1322354
REFERENCE   8  (bases 1 to 3294)
  AUTHORS   Altherr,M.R., Wasmuth,J.J., Seldin,M.F., Nadeau,J.H., Baehr,W. and
            Pittler,S.J.
  TITLE     Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase
            beta-subunit gene in mouse and human: tight linkage to the
            Huntington disease region (4p16.3)
  JOURNAL   Genomics 12 (4), 750-754 (1992)
   PUBMED   1315306
REFERENCE   9  (bases 1 to 3294)
  AUTHORS   Bateman,J.B., Klisak,I., Kojis,T., Mohandas,T., Sparkes,R.S.,
            Li,T.S., Applebury,M.L., Bowes,C. and Farber,D.B.
  TITLE     Assignment of the beta-subunit of rod photoreceptor cGMP
            phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human
            chromosome 4p16
  JOURNAL   Genomics 12 (3), 601-603 (1992)
   PUBMED   1313787
REFERENCE   10 (bases 1 to 3294)
  AUTHORS   Farber,D.B. and Lolley,R.N.
  TITLE     Enzymic basis for cyclic GMP accumulation in degenerative
            photoreceptor cells of mouse retina
  JOURNAL   J Cyclic Nucleotide Res 2 (3), 139-148 (1976)
   PUBMED   6493
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107464.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 26, 2020 this sequence version replaced NM_000283.3.
            
            Summary: Photon absorption triggers a signaling cascade in rod
            photoreceptors that activates cGMP phosphodiesterase (PDE),
            resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated
            cation channels, and hyperpolarization of the cell. PDE is a
            peripheral membrane heterotrimeric enzyme made up of alpha, beta,
            and gamma subunits. This gene encodes the beta subunit. Mutations
            in this gene result in retinitis pigmentosa and autosomal dominant
            congenital stationary night blindness. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Feb 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: S41458.1, X66142.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000496514.6/ ENSP00000420295.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-522               AC107464.5         17141-17662
            523-675             AC107464.5         26245-26397
            676-765             AC107464.5         27448-27537
            766-906             AC107464.5         45420-45560
            907-981             AC107464.5         45648-45722
            982-1046            AC107464.5         46392-46456
            1047-1113           AC107464.5         47508-47574
            1114-1161           AC107464.5         47813-47860
            1162-1311           AC107464.5         48442-48591
            1312-1455           AC107464.5         48919-49062
            1456-1521           AC107464.5         50520-50585
            1522-1668           AC107464.5         52035-52181
            1669-1776           AC107464.5         53702-53809
            1777-1886           AC107464.5         54077-54186
            1887-1974           AC107464.5         54668-54755
            1975-2075           AC107464.5         55338-55438
            2076-2183           AC107464.5         55682-55789
            2184-2247           AC107464.5         56449-56512
            2248-2322           AC107464.5         56823-56897
            2323-2406           AC107464.5         58099-58182
            2407-2557           AC107464.5         59424-59574
            2558-3294           AC107464.5         61614-62350
FEATURES             Location/Qualifiers
     source          1..3294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..3294
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="phosphodiesterase 6B"
                     /db_xref="GeneID:5158"
                     /db_xref="HGNC:HGNC:8786"
                     /db_xref="MIM:180072"
     exon            1..522
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..2619
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /EC_number="3.1.4.35"
                     /note="isoform 1 is encoded by transcript variant 1; rod
                     cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta;
                     rod cGMP-phosphodiesterase beta-subunit; GMP-PDE beta;
                     phosphodiesterase 6B, cGMP-specific, rod, beta"
                     /codon_start=1
                     /product="rod cGMP-specific 3',5'-cyclic phosphodiesterase
                     subunit beta isoform 1"
                     /protein_id="NP_000274.3"
                     /db_xref="CCDS:CCDS33932.1"
                     /db_xref="GeneID:5158"
                     /db_xref="HGNC:HGNC:8786"
                     /db_xref="MIM:180072"
                     /translation="MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDC
                     DSLRDLCQVEESTALLELVQDMQESINMERVVFKVLRRLCTLLQADRCSLFMYRQRNG
                     VAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF
                     SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATL
                     YLKIYHLSYLHNCETRRGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVG
                     LLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPS
                     ADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKK
                     EEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQD
                     MVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSD
                     LECTELDLVKCGIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVA
                     QTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSI
                     LERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKI
                     VDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEF
                     WEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFD
                     RLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEICNGGPAPKSSTCCIL"
     exon            523..675
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            676..765
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            766..906
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            907..981
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1046
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1113
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1161
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1311
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1312..1455
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1521
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1668
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1669..1776
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1777..1886
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1887..1974
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            1975..2075
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            2076..2183
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            2184..2247
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            2248..2322
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            2323..2406
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            2407..2557
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     exon            2558..3294
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3279..3284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="hexamer: AATAAA"
     polyA_site      3294
                     /gene="PDE6B"
                     /gene_synonym="CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; rd1;
                     RP40"
                     /note="major polyA site"
ORIGIN      
        1 ctgggagtcc atgcgtgcct ggagcagcag cgtctccagg gacaggcagc caccatgagc
       61 ctcagtgagg agcaggcccg gagctttctg gaccagaacc ccgattttgc ccgccagtac
      121 tttgggaaga aactgagccc tgagaatgtg gccgcggcct gcgaggacgg gtgcccgccg
      181 gactgcgaca gcctccggga cctctgccag gtggaggaga gcacggcgct gctggagctg
      241 gtgcaggata tgcaggagag catcaacatg gagcgcgtgg tcttcaaggt cctgcggcgc
      301 ctctgcaccc tcctgcaggc cgaccgctgc agcctcttca tgtaccgcca gcgcaacggc
      361 gtggccgagc tggccaccag gcttttcagc gtgcagccgg acagcgtcct ggaggactgc
      421 ctggtgcccc ccgactccga gatcgtcttc ccactggaca tcggggtcgt gggccacgtg
      481 gctcagacca aaaagatggt gaacgtcgag gacgtggccg agtgccctca cttcagctca
      541 tttgctgacg agctcactga ctacaagaca aagaatatgc tggccacacc catcatgaat
      601 ggcaaagacg tcgtggcggt gatcatggca gtgaacaagc tcaacggccc attcttcacc
      661 agcgaagacg aagatgtgtt cttgaagtac ctgaattttg ccacgttgta cctgaagatc
      721 tatcacctga gctacctcca caactgcgag acgcgccgcg gccaggtgct gctgtggtcg
      781 gccaacaagg tgtttgagga gctgacggac atcgagaggc agttccacaa ggccttctac
      841 acggtgcggg cctacctcaa ctgcgagcgg tactccgtgg gcctcctgga catgaccaag
      901 gagaaggaat tttttgacgt gtggtctgtg ctgatgggag agtcccagcc gtactcgggc
      961 ccacgcacgc ctgatggccg ggaaattgtc ttctacaaag tgatcgacta cgtcctccac
     1021 ggcaaggagg agatcaaggt cattcccaca ccctcagccg atcactgggc cctggccagc
     1081 ggccttccaa gctacgtggc agaaagcggc tttatttgta acatcatgaa tgcttccgct
     1141 gacgaaatgt tcaaatttca ggaaggggcc ctggacgact ccgggtggct catcaagaat
     1201 gtgctgtcca tgcccatcgt caacaagaag gaggagattg tgggagtcgc cacattttac
     1261 aacaggaaag acgggaagcc ctttgacgaa caggacgagg ttctcatgga gtccctgaca
     1321 cagttcctgg gctggtcagt gatgaacacc gacacctacg acaagatgaa caagctggag
     1381 aaccgcaagg acatcgcaca ggacatggtc ctttaccacg tgaagtgcga cagggacgag
     1441 atccagctca tcctgccaac cagagcgcgc ctggggaagg agcctgctga ctgcgatgag
     1501 gacgagctgg gcgaaatcct gaaggaggag ctgccagggc ccaccacatt tgacatctac
     1561 gaattccact tctctgacct ggagtgcacc gaactggacc tggtcaaatg tggcatccag
     1621 atgtactacg agctgggcgt ggtccgaaag ttccagatcc cccaggaggt cctggtgcgg
     1681 ttcctgttct ccatcagcaa agggtaccgg agaatcacct accacaactg gcgccacggc
     1741 ttcaacgtgg cccagacgat gttcacgctg ctcatgaccg gcaaactgaa gagctactac
     1801 acggacctgg aggccttcgc catggtgaca gccggcctgt gccatgacat cgaccaccgc
     1861 ggcaccaaca acctgtacca gatgaagtcc cagaacccct tggctaagct ccacggctcc
     1921 tcgattttgg agcggcacca cctggagttt gggaagttcc tgctctcgga ggagaccctg
     1981 aacatctacc agaacctgaa ccggcggcag cacgagcacg tgatccacct gatggacatc
     2041 gccatcatcg ccacggacct ggccctgtac ttcaagaaga gagcgatgtt tcagaagatc
     2101 gtggatgagt ccaagaacta ccaggacaag aagagctggg tggagtacct gtccctggag
     2161 acgacccgga aggagatcgt catggccatg atgatgacag cctgcgacct gtctgccatc
     2221 accaagccct gggaagtcca gagcaaggtc gcacttctcg tggctgctga gttctgggag
     2281 caaggtgact tggaaaggac agtcttggat cagcagccca ttcctatgat ggaccggaac
     2341 aaggcggccg agctccccaa gctgcaagtg ggcttcatcg acttcgtgtg cacattcgtg
     2401 tacaaggagt tctctcgttt ccacgaagag atcctgccca tgttcgaccg actgcagaac
     2461 aataggaaag agtggaaggc gctggctgat gagtatgagg ccaaagtgaa ggctctggag
     2521 gagaaggagg aggaggagag ggtggcagcc aagaaagtag gcacagaaat ttgcaatggc
     2581 ggcccagcac ccaagtcttc aacctgctgt atcctgtgag cactggtccc atggggaccc
     2641 tatggctccc tcaatcttca cccactagga tttgggttct gcctgtggct atttgctaca
     2701 agaggttagg aagcccaaga aaatgactga agatcattct ggatatttta attttttttt
     2761 tttttttttt ttgagatgga gtcttgctct gtcacccagg ctggagtgcc gtggcacgat
     2821 ctcagctcac tgcaacctcc acctcccagg ttcaagcgat tctcgtgcct cagcctcctg
     2881 agtagctggg actacaggcg cccaccacca cacatggcta atttttgtat tttcagtaca
     2941 gatggggttt caccatattg ggcaggctgg tctcgaactc ctgacctcag gtgatcaccc
     3001 gcctcagctt cctgaagtgc tgggattaca ggcatgagcc accacgccca gcctgttttt
     3061 ataaactgaa gccaactgtg aataaactgt agcctacatt actcatccat ttttggatag
     3121 ttaccactgg gagacctttg aaaagggtcc atgaactctg aaatcactga gaacatttgc
     3181 agccacacat gtacatatgt gtacacaggt agacagatgg acacaggccg tttctcatcc
     3241 agtttaggaa aacacacatg ctcaggaatt cagaataaaa taaacagaaa acta
//
