LOCUS       NM_001164688            3508 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens RD3 regulator of GUCY2D (RD3), transcript variant 2,
            mRNA.
ACCESSION   NM_001164688
VERSION     NM_001164688.2
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 3508)
  AUTHORS   Peshenko,I.V. and Dizhoor,A.M.
  TITLE     Two clusters of surface-exposed amino acid residues enable
            high-affinity binding of retinal degeneration-3 (RD3) protein to
            retinal guanylyl cyclase
  JOURNAL   J Biol Chem 295 (31), 10781-10793 (2020)
   PUBMED   32493772
  REMARK    GeneRIF: Two clusters of surface-exposed amino acid residues enable
            high-affinity binding of retinal degeneration-3 (RD3) protein to
            retinal guanylyl cyclase.
REFERENCE   2  (bases 1 to 3508)
  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 3508)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3508)
  AUTHORS   Peshenko,I.V., Yu,Q., Lim,S., Cudia,D., Dizhoor,A.M. and Ames,J.B.
  TITLE     Retinal degeneration 3 (RD3) protein, a retinal guanylyl cyclase
            regulator, forms a monomeric and elongated four-helix bundle
  JOURNAL   J Biol Chem 294 (7), 2318-2328 (2019)
   PUBMED   30559291
  REMARK    GeneRIF: The NMR structure of RD3 presented here provides a
            structural basis for elucidating RD3-RetGC interactions relevant
            for normal vision or blindness.
REFERENCE   5  (bases 1 to 3508)
  AUTHORS   Azadi,S., Molday,L.L. and Molday,R.S.
  TITLE     RD3, the protein associated with Leber congenital amaurosis type
            12, is required for guanylate cyclase trafficking in photoreceptor
            cells
  JOURNAL   Proc Natl Acad Sci U S A 107 (49), 21158-21163 (2010)
   PUBMED   21078983
REFERENCE   6  (bases 1 to 3508)
  AUTHORS   Li,Y., Wang,H., Peng,J., Gibbs,R.A., Lewis,R.A., Lupski,J.R.,
            Mardon,G. and Chen,R.
  TITLE     Mutation survey of known LCA genes and loci in the Saudi Arabian
            population
  JOURNAL   Invest Ophthalmol Vis Sci 50 (3), 1336-1343 (2009)
   PUBMED   18936139
REFERENCE   7  (bases 1 to 3508)
  AUTHORS   Friedman,J.S., Chang,B., Kannabiran,C., Chakarova,C., Singh,H.P.,
            Jalali,S., Hawes,N.L., Branham,K., Othman,M., Filippova,E.,
            Thompson,D.A., Webster,A.R., Andreasson,S., Jacobson,S.G.,
            Bhattacharya,S.S., Heckenlively,J.R. and Swaroop,A.
  TITLE     Premature truncation of a novel protein, RD3, exhibiting subnuclear
            localization is associated with retinal degeneration
  JOURNAL   Am J Hum Genet 79 (6), 1059-1070 (2006)
   PUBMED   17186464
  REMARK    GeneRIF: the retinopathy-associated RD3 protein is part of
            subnuclear protein complexes involved in diverse processes, such as
            transcription and splicing.
            Erratum:[Am J Hum Genet. 2007 Feb;80(2):388]
REFERENCE   8  (bases 1 to 3508)
  AUTHORS   Lavorgna,G., Lestingi,M., Ziviello,C., Testa,F., Simonelli,F.,
            Manitto,M.P., Brancato,R., Ferrari,M., Rinaldi,E., Ciccodicola,A.
            and Banfi,S.
  TITLE     Identification and characterization of C1orf36, a transcript highly
            expressed in photoreceptor cells, and mutation analysis in
            retinitis pigmentosa
  JOURNAL   Biochem Biophys Res Commun 308 (3), 414-421 (2003)
   PUBMED   12914764
  REMARK    GeneRIF: Identification and sequence analysis of C1orf36.
REFERENCE   9  (bases 1 to 3508)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   10 (bases 1 to 3508)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC105275.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 23, 2020 this sequence version replaced NM_001164688.1.
            
            Summary: This gene encodes a retinal protein that is associated
            with promyelocytic leukemia-gene product (PML) bodies in the
            nucleus. Mutations in this gene cause Leber congenital amaurosis
            type 12, a disease that results in retinal degeneration.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2009].
            
            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 :: BX647803.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000680073.1/ ENSP00000505312.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-395               AC105275.3         34862-35256         c
            396-702             AC105275.3         24214-24520         c
            703-3508            AC105275.3         19616-22421         c
FEATURES             Location/Qualifiers
     source          1..3508
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.3"
     gene            1..3508
                     /gene="RD3"
                     /gene_synonym="C1orf36; LCA12"
                     /note="RD3 regulator of GUCY2D"
                     /db_xref="GeneID:343035"
                     /db_xref="HGNC:HGNC:19689"
                     /db_xref="MIM:180040"
     exon            1..395
                     /gene="RD3"
                     /gene_synonym="C1orf36; LCA12"
                     /inference="alignment:Splign:2.1.0"
     exon            396..702
                     /gene="RD3"
                     /gene_synonym="C1orf36; LCA12"
                     /inference="alignment:Splign:2.1.0"
     CDS             407..994
                     /gene="RD3"
                     /gene_synonym="C1orf36; LCA12"
                     /note="retinal degeneration protein 3; retinal
                     degeneration 3, GUCY2D regulator"
                     /codon_start=1
                     /product="protein RD3"
                     /protein_id="NP_001158160.1"
                     /db_xref="CCDS:CCDS1498.1"
                     /db_xref="GeneID:343035"
                     /db_xref="HGNC:HGNC:19689"
                     /db_xref="MIM:180040"
                     /translation="MSLISWLRWNEAPSRLSTRSPAEMVLETLMMELTGQMREAERQQ
                     RERSNAVRKVCTGVDYSWLASTPRSTYDLSPIERLQLEDVCVKIHPSYCGPAILRFRQ
                     LLAEQEPEVQEVSQLFRSVLQEVLERMKQEEEAHKLTRQWSLRPRGSLATFKTRARIS
                     PFASDIRTISEDVERDTPPPLRSWSMPEFRAPKAD"
     exon            703..3508
                     /gene="RD3"
                     /gene_synonym="C1orf36; LCA12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3490..3495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RD3"
                     /gene_synonym="C1orf36; LCA12"
                     /note="hexamer: AATAAA"
     polyA_site      3508
                     /gene="RD3"
                     /gene_synonym="C1orf36; LCA12"
                     /note="major polyA site"
ORIGIN      
        1 aggagctggc ccgcctccat ggttcatcag ggaagctgtg gctccagcct cgcgggatac
       61 atacacgcat acacacacac acacacacac acacacacac acacacacac acacctacac
      121 accccacaaa caatagtcca ggctggatct ctcctcctgt ctcttctctt ggtaaaactt
      181 ctcagagaac caaagagagg caaaatttga ggccagccgg cagcagcaga gaagctgagg
      241 gagacttgag gatgtagact gccctgccct gctgtggctg ctcaactttc tttttttttc
      301 ctgaaaatat ccagacactc tcttctccca gactgggaag cagaacgcag gccccctgct
      361 gtgacgctgc acctgagcag aggctgacct cagagggcca ggggctatgt ctctcatctc
      421 atggcttcgg tggaacgagg ccccatcccg gctgtccacc aggagccctg ctgagatggt
      481 gctggagacg cttatgatgg agctgacggg gcagatgcga gaggctgaga ggcagcagcg
      541 ggagcgcagc aatgcggtca gaaaggtctg caccggtgtg gactacagct ggctggccag
      601 cacaccccgg tccacctatg acctcagccc cattgagcgg ttgcagctgg aagatgtctg
      661 cgttaagatc cacccatcct attgtgggcc tgctatcctc aggttccggc agctgctggc
      721 ggagcaggag cccgaggtgc aggaggtgtc ccagctcttc cgctcggtgc tgcaggaggt
      781 cctggagagg atgaagcagg aagaggaggc ccacaagctg acgcgccagt ggagcctgcg
      841 gccccgcggc agcctggcca ccttcaagac ccgcgcgcgc atctcgccct tcgccagcga
      901 catcaggacc atctccgagg acgtggagcg ggacacaccg ccgccactgc ggtcctggag
      961 catgcccgaa ttccgggcgc ccaaagccga ctgaccccgg ccgcttccct gcccagaagc
     1021 ggagccttct gcagggggaa tgataggccg gtgaccggag cgccgggccc tggaacctcc
     1081 ccacctaggc ctgacgagga gacccaagag gcggccccat cccaagacgc tgctataaaa
     1141 tgaagcgact ccctgcccca tcctcttcct ctggccacaa agctgagtta ggtcgtagag
     1201 cggcaccgcc ctctccctct cctgcgctag tctgcaggag cagccccttc cctaactggc
     1261 agattcaagg ttttggaaga cagaccattg ccccatcctc atctcctggt tctgtctaaa
     1321 aggggacagt tgccctgcct tttggcaaga cctaggttct caccccaatt tcagggatgt
     1381 cccattcacc cccctacccc catccccaat gagaagggac ctgttggctg gtatgccttc
     1441 ttgctagtga ctggctgagc tcaccactgc aggtgggtca cacacagcct cataggcagg
     1501 cacagctgga agggaccaga gagacattta gatccactct cttcagctag taaatgtgga
     1561 acttgaggct cagagaggga cacttcttct gcctttaact gcagccagct cctcatgaac
     1621 agtgagattg ttcctgcatg aatagtgtct gttcctgagt ttggaatcct gggctatgaa
     1681 gggacaggtc caaaggctac atctctacct acctgtggcc tgatccatct cttaccttgg
     1741 cagtgggatg agaatctaag ctgctctcca agaagtgtag ctaggggtgg aggtaggtta
     1801 ctcattaccc cacgccacaa tgtcatcgca tgggctgtgg ccagtcccta acagcttctt
     1861 ccagaggctc agctccaagg acttcagatg ctgccctaaa gagcccaggt ttctcaattc
     1921 cagggttccg ctttctgcag ctggtcacac ctgctctctg gctttctcca gaaagtgatg
     1981 cccaaacccc tgactgacct tgaggcagct gagtgaaatg ttctagaaga gcttcctgca
     2041 gcttcattgt ccttcccttt tctaacatgg ttaggccttg atgatgggca tgtggattac
     2101 ccaatgtgtg gatcacccat ggaaaatctg gaaggccagg aggccttccc acacactctg
     2161 gggttgaagt ggggtgtaag ggggatgggt ggggaagtgt ctaccctcaa ctaccagcac
     2221 acatgcagaa aatgcaagtg gaccttaata gtagcctaaa taaaataccc ggaggagata
     2281 taatcaacag gggggaaaag tgtgtattcc ctcagtggaa aaaagttttt ttgaatgatt
     2341 tggttttgaa cttccctttt gaagtttttt tggattttca cttgaatctg gacagagaat
     2401 cataggatgg tggaaaacct ctgatccaac actatcaaga tgaaagagtt gattggctta
     2461 ttaatgtaat tggtagaagt tgagaatcac ttaaaatata catcttaaac atcttacgta
     2521 ttttatttga agacataaaa agttcacttg gttgccaaac tttttttttt ttttttgaga
     2581 ctgagtctca ctctgttacc caggctgcag tgcagtggcg tgatctcggc tcaccacaac
     2641 ctttgcctcc cgggttcaag tgattcttct gcctcagcct cctaagtagc tgggactaca
     2701 ggcacgtgcc atcaccccag ctaatttttg tatttttatt agagatgggg tttcactatg
     2761 ttgcccagaa tggtcttgaa ctcctgacct cgtgatccac tcgccttggc ctcccaaagt
     2821 gctgggatta cagacatgag ccactgtgcc tggctgccaa acttttgatg tgggtccaag
     2881 ctgtgctttt ttgtgaccta tatgttttgt ctggtgggag ttctacactt aagttttctt
     2941 ggtttgcact ttaatcataa caataagaac aactggcgta aaagagtttt ggaacaagca
     3001 gaagtgaccc ttggtaagca gactgctcag ctggtagggg caaaagtgtt gggggaggat
     3061 tagaaaaagg cctccacatt gtgggctttc cgggtgccct ggatgtgggt cagcaaatgt
     3121 tttagaggaa gtagttaacc tggagggaga ttcaaaggag gctggataag agaatgtcta
     3181 tttttctcct tccctatcac cttacatgta cctattctcc ccaaagagaa ggaagacctt
     3241 aggctttcaa tgtggtgttc tttcttaagt ttaagtaact ggctgccaat gaaaaccttc
     3301 ccttcgagcc gcaggcatgt ggacagaatc caccaccctc cttagacact cctcagacta
     3361 ctacaggcta tccccagctg gtggctctca aattcatgag ggtccagaag ttgttcctct
     3421 ggattcaggt tgttaaaggg actaatgagg tctgcttcca ttactattat tgaaacctca
     3481 ataaccacaa ataaaagaac aaaaagtt
//
