LOCUS       NM_001319061            2275 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens GUCA1ANB-GUCA1A readthrough (GUCA1ANB-GUCA1A),
            transcript variant 2, mRNA.
ACCESSION   NM_001319061
VERSION     NM_001319061.2
KEYWORDS    RefSeq.
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 2275)
  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   2  (bases 1 to 2275)
  AUTHORS   Peshenko,I.V., Cideciyan,A.V., Sumaroka,A., Olshevskaya,E.V.,
            Scholten,A., Abbas,S., Koch,K.W., Jacobson,S.G. and Dizhoor,A.M.
  TITLE     A G86R mutation in the calcium-sensor protein GCAP1 alters
            regulation of retinal guanylyl cyclase and causes dominant cone-rod
            degeneration
  JOURNAL   J Biol Chem 294 (10), 3476-3488 (2019)
   PUBMED   30622141
REFERENCE   3  (bases 1 to 2275)
  AUTHORS   Marino,V., Dal Cortivo,G., Oppici,E., Maltese,P.E., D'Esposito,F.,
            Manara,E., Ziccardi,L., Falsini,B., Magli,A., Bertelli,M. and
            Dell'Orco,D.
  TITLE     A novel p.(Glu111Val) missense mutation in GUCA1A associated with
            cone-rod dystrophy leads to impaired calcium sensing and perturbed
            second messenger homeostasis in photoreceptors
  JOURNAL   Hum Mol Genet 27 (24), 4204-4217 (2018)
   PUBMED   30184081
REFERENCE   4  (bases 1 to 2275)
  AUTHORS   Manes,G., Mamouni,S., Herald,E., Richard,A.C., Senechal,A.,
            Aouad,K., Bocquet,B., Meunier,I. and Hamel,C.P.
  TITLE     Cone dystrophy or macular dystrophy associated with novel autosomal
            dominant GUCA1A mutations
  JOURNAL   Mol Vis 23, 198-209 (2017)
   PUBMED   28442884
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2275)
  AUTHORS   Sulmann,S., Kussrow,A., Bornhop,D.J. and Koch,K.W.
  TITLE     Label-free quantification of calcium-sensor targeting to
            photoreceptor guanylate cyclase and rhodopsin kinase by
            backscattering interferometry
  JOURNAL   Sci Rep 7, 45515 (2017)
   PUBMED   28361875
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2275)
  AUTHORS   Dizhoor,A.M., Boikov,S.G. and Olshevskaya,E.V.
  TITLE     Constitutive activation of photoreceptor guanylate cyclase by Y99C
            mutant of GCAP-1. Possible role in causing human autosomal dominant
            cone degeneration
  JOURNAL   J Biol Chem 273 (28), 17311-17314 (1998)
   PUBMED   9651312
REFERENCE   7  (bases 1 to 2275)
  AUTHORS   Cuenca,N., Lopez,S., Howes,K. and Kolb,H.
  TITLE     The localization of guanylyl cyclase-activating proteins in the
            mammalian retina
  JOURNAL   Invest Ophthalmol Vis Sci 39 (7), 1243-1250 (1998)
   PUBMED   9620085
REFERENCE   8  (bases 1 to 2275)
  AUTHORS   Payne,A.M., Downes,S.M., Bessant,D.A., Taylor,R., Holder,G.E.,
            Warren,M.J., Bird,A.C. and Bhattacharya,S.S.
  TITLE     A mutation in guanylate cyclase activator 1A (GUCA1A) in an
            autosomal dominant cone dystrophy pedigree mapping to a new locus
            on chromosome 6p21.1
  JOURNAL   Hum Mol Genet 7 (2), 273-277 (1998)
   PUBMED   9425234
REFERENCE   9  (bases 1 to 2275)
  AUTHORS   Surguchov,A., Bronson,J.D., Banerjee,P., Knowles,J.A., Ruiz,C.,
            Subbaraya,I., Palczewski,K. and Baehr,W.
  TITLE     The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail
            array on the short arm of chromosome 6 (p21.1)
  JOURNAL   Genomics 39 (3), 312-322 (1997)
   PUBMED   9119368
REFERENCE   10 (bases 1 to 2275)
  AUTHORS   Subbaraya,I., Ruiz,C.C., Helekar,B.S., Zhao,X., Gorczyca,W.A.,
            Pettenati,M.J., Rao,P.N., Palczewski,K. and Baehr,W.
  TITLE     Molecular characterization of human and mouse photoreceptor
            guanylate cyclase-activating protein (GCAP) and chromosomal
            localization of the human gene
  JOURNAL   J Biol Chem 269 (49), 31080-31089 (1994)
   PUBMED   7983048
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL096814.26.
            
            On Oct 11, 2019 this sequence version replaced NM_001319061.1.
            
            Summary: This locus represents naturally occurring readthrough
            transcription between the neighboring GUCA1ANB (GUCA1A neighbor)
            and GUCA1A (guanylate cyclase activator 1A) genes on chromosome 6.
            The readthrough transcript encodes the same protein as GUCA1A.
            [provided by RefSeq, Jul 2020].
            
            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 :: AK125780.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 2978,
                                      114841037
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-188               AL096814.26        144622-144809       c
            189-735             AL096814.26        136749-137295       c
            736-1217            AL096814.26        126401-126882       c
            1218-1367           AL096814.26        121786-121935       c
            1368-1461           AL096814.26        121320-121413       c
            1462-2275           AL096814.26        120159-120972       c
FEATURES             Location/Qualifiers
     source          1..2275
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..2275
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /note="GUCA1ANB-GUCA1A readthrough"
                     /db_xref="GeneID:118142757"
                     /db_xref="HGNC:HGNC:56129"
     exon            1..188
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /inference="alignment:Splign:2.1.0"
     exon            189..735
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /inference="alignment:Splign:2.1.0"
     exon            736..1217
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             1017..1622
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /codon_start=1
                     /product="guanylyl cyclase-activating protein 1"
                     /protein_id="NP_001305990.1"
                     /db_xref="CCDS:CCDS4864.1"
                     /db_xref="GeneID:118142757"
                     /db_xref="HGNC:HGNC:56129"
                     /translation="MGNVMEGKSVEELSSTECHQWYKKFMTECPSGQLTLYEFRQFFG
                     LKNLSPSASQYVEQMFETFDFNKDGYIDFMEYVAALSLVLKGKVEQKLRWYFKLYDVD
                     GNGCIDRDELLTIIQAIRAINPCSDTTMTAEEFTDTVFSKIDVNGDGELSLEEFIEGV
                     QKDQMLLDTLTRSLDLTRIVRRLQNGEQDEEGADEAAEAAG"
     exon            1218..1367
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1461
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..2275
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2256..2261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /note="hexamer: AATAAA"
     polyA_site      2275
                     /gene="GUCA1ANB-GUCA1A"
                     /gene_synonym="GUCA1A"
                     /note="major polyA site"
ORIGIN      
        1 agtatcctgc caagagtcct ccctgaccac cagaagttcc acctcaccat caagaaaggc
       61 cctggtccag gatgtgcaag gtgtgatgaa atcacagggc tggggaaggt cagctcgggg
      121 tcacaagaag cctgatgggc aggaaagagc atgaaagccc cagccagcct cacatgtgcg
      181 gctgggagga ctcacagaaa ccctctgtac ccagtcatgg gccaaagaca ccgtcatgca
      241 agggggtgaa ggctccacac tcgtcccggc cccgggcgtg gaagcaggac ctcgagcagt
      301 ctctggcagc agcctatgtg ccggtcgttg tggactctaa ggggcagaat ccggacaagc
      361 tcaggttcaa tttctacacc tcccagtact ccaactccct gaaccccttc tacactttgc
      421 agaagcctac ctgtggctac ctgtaccgcc gggacactga ccacacccgc aagcgctttg
      481 atgtgcctcc tgccaacttg gtcttgtggc gctcctaggc ctgagccaaa cggaagcccc
      541 cgacccttca ccctcacccc tgtgacctca ggtccccaag gggaagggct gctcactgca
      601 ggaggagtga cctatattcg ggctaagaca gctgtgccat gcccacctat tgacaatgat
      661 aaagggaggt ctctcttctc agcagcagtt aaagtttgtc cttcctttcc ctggcatctg
      721 aatgggtggc tgtggggtac agtctcccct ggggctgcaa ggatttagtg gagactctta
      781 acaccagttc tctggcatct gtgagtttga gtgtgggcca tcatcttctt ccttctgctc
      841 tctccctctc cacatttccc ggtaccatct gatccatcag gcccttcttt gctcaggcct
      901 gaaggactca ggcctgtgag agaggacggc cccgttgtcg gccaagacac ctttgggcga
      961 ggagcagcga acagggcctg tccatctcag acgtcagccc cctgaaggcc tgagcaatgg
     1021 gcaacgtgat ggagggaaag tcagtggagg agctgagcag caccgagtgc caccagtggt
     1081 acaagaagtt catgactgag tgcccctctg gccaactcac cctctatgag ttccgccagt
     1141 tcttcggcct caagaacctg agcccgtcgg ccagccagta cgtggaacag atgtttgaga
     1201 cttttgactt caacaaggac ggctacattg atttcatgga gtacgtggca gcgctcagct
     1261 tggtcctcaa ggggaaggtg gaacagaagc tccgctggta cttcaagctc tatgatgtag
     1321 atggcaacgg ctgcattgac cgcgatgagc tgctcaccat catccaggcc attcgcgcca
     1381 ttaacccctg cagcgatacc accatgactg cagaggagtt caccgataca gtgttctcca
     1441 agattgacgt caacggggat ggggaactct ccctggaaga gtttatagag ggcgtccaga
     1501 aggaccagat gctcctggac acactgacac gaagcctgga ccttacccgc atcgtgcgca
     1561 ggctccagaa tggcgagcaa gacgaggagg gggctgacga ggccgctgag gcagccggct
     1621 gagtgcaccg cccggctgct tctgcactag cgggtggggt ggtatggtgg tgcctgttgg
     1681 tggtgttctt gtcttaaccc tagatagaat ctaatgaact cagaggctta gctcgcctct
     1741 ttagggtcca tggtggcagc agagaggcag aagtgggagt ccagagccag gaacagtgaa
     1801 ggatggttcc tggcccctct gagtgacagc tggtggcagc actccttgct ggggggcact
     1861 gttcaacatc cctctgccgt cgggtgaccc cctagccctt ctgactcctc tcccagcttt
     1921 tcccagcttt ccccactgag cttctccagt ccatgctctt ctggacgtgg actctctgag
     1981 gcagaactga gcttttccag gcctcttatg gaatcctgca gatccagtgg ctgcagcttc
     2041 aatcccagtg ctgcaatcac acatccattc tgccctgggg gaccctggag cctacttgtg
     2101 cgctttgcat ttcattgatt gacgcctccc ttcaacaagc atttactgag cgcctactat
     2161 gtactaatgc tagatgttag atgtacaaag aagacagttt tcatcctcta ggaactcata
     2221 ggctaatggt gagacacaca gacaaacatc attataataa aatatgctaa gagaa
//
