LOCUS       NM_001384910            1509 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens guanylate cyclase activator 1A (GUCA1A), mRNA.
ACCESSION   NM_001384910
VERSION     NM_001384910.1
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 1509)
  AUTHORS   Biasi,A., Marino,V., Dal Cortivo,G. and Dell'Orco,D.
  TITLE     Supramolecular complexes of GCAP1: implications for inherited
            retinal dystrophies
  JOURNAL   Int J Biol Macromol 279 (Pt 1), 135068 (2024)
   PUBMED   39187109
  REMARK    GeneRIF: Supramolecular complexes of GCAP1: implications for
            inherited retinal dystrophies.
REFERENCE   2  (bases 1 to 1509)
  AUTHORS   Biasi,A., Marino,V., Dal Cortivo,G., Maltese,P.E., Modarelli,A.M.,
            Bertelli,M., Colombo,L. and Dell'Orco,D.
  TITLE     A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP
            Signaling in Photoreceptors by Strongly Interacting with and
            Hyperactivating Retinal Guanylate Cyclase
  JOURNAL   Int J Mol Sci 22 (19), 10809 (2021)
   PUBMED   34639157
  REMARK    GeneRIF: A Novel GUCA1A Variant Associated with Cone Dystrophy
            Alters cGMP Signaling in Photoreceptors by Strongly Interacting
            with and Hyperactivating Retinal Guanylate Cyclase.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1509)
  AUTHORS   Marino,V., Dal Cortivo,G., Maltese,P.E., Placidi,G., De Siena,E.,
            Falsini,B., Bertelli,M. and Dell'Orco,D.
  TITLE     Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone
            Dystrophy and Leads to Abnormal Synaptic Transmission Between
            Photoreceptors and Bipolar Cells
  JOURNAL   Int J Mol Sci 22 (8), 4030 (2021)
   PUBMED   33919796
  REMARK    GeneRIF: Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant
            Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission
            Between Photoreceptors and Bipolar Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1509)
  AUTHORS   Boni,F., Marino,V., Bidoia,C., Mastrangelo,E., Barbiroli,A.,
            Dell'Orco,D. and Milani,M.
  TITLE     Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1)
            Dimeric Assembly by Ca2+ or Mg2+: Hints to Understand Protein
            Activity
  JOURNAL   Biomolecules 10 (10), 1408 (2020)
   PUBMED   33027977
  REMARK    GeneRIF: Modulation of Guanylate Cyclase Activating Protein 1
            (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand
            Protein Activity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1509)
  AUTHORS   Dal Cortivo,G., Marino,V., Boni,F., Milani,M. and Dell'Orco,D.
  TITLE     Missense mutations affecting Ca2+-coordination in GCAP1 lead to
            cone-rod dystrophies by altering protein structural and functional
            properties
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1867 (10), 118794 (2020)
   PUBMED   32650103
  REMARK    GeneRIF: Missense mutations affecting Ca(2+)-coordination in GCAP1
            lead to cone-rod dystrophies by altering protein structural and
            functional properties.
REFERENCE   6  (bases 1 to 1509)
  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 1509)
  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 1509)
  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 1509)
  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 1509)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an enzyme that plays a role in the
            recovery of retinal photoreceptors from photobleaching. This enzyme
            promotes the activity of retinal guanylyl cyclase-1 (GC1) at low
            calcium concentrations and inhibits GC1 at high calcium
            concentrations. Mutations in this gene can cause cone dystrophy 3
            and code-rod dystrophy 14. provided by RefSeq, Jul 2020].
            
            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 :: BM564184.1, L36859.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372958.2/ ENSP00000362049.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-451               AL096814.26        126401-126851       c
            452-601             AL096814.26        121786-121935       c
            602-695             AL096814.26        121320-121413       c
            696-1509            AL096814.26        120159-120972       c
FEATURES             Location/Qualifiers
     source          1..1509
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..1509
                     /gene="GUCA1A"
                     /gene_synonym="C6orf131; COD3; CORD14; GCAP; GCAP-1;
                     GCAP-I; GCAP1; GUCA; GUCA1"
                     /note="guanylate cyclase activator 1A"
                     /db_xref="GeneID:2978"
                     /db_xref="HGNC:HGNC:4678"
                     /db_xref="MIM:600364"
     exon            1..451
                     /gene="GUCA1A"
                     /gene_synonym="C6orf131; COD3; CORD14; GCAP; GCAP-1;
                     GCAP-I; GCAP1; GUCA; GUCA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             251..856
                     /gene="GUCA1A"
                     /gene_synonym="C6orf131; COD3; CORD14; GCAP; GCAP-1;
                     GCAP-I; GCAP1; GUCA; GUCA1"
                     /note="cone dystrophy 3; guanylate cyclase-activating
                     protein, photoreceptor 1; guanylin 1, retina"
                     /codon_start=1
                     /product="guanylyl cyclase-activating protein 1"
                     /protein_id="NP_001371839.1"
                     /db_xref="CCDS:CCDS4864.1"
                     /db_xref="GeneID:2978"
                     /db_xref="HGNC:HGNC:4678"
                     /db_xref="MIM:600364"
                     /translation="MGNVMEGKSVEELSSTECHQWYKKFMTECPSGQLTLYEFRQFFG
                     LKNLSPSASQYVEQMFETFDFNKDGYIDFMEYVAALSLVLKGKVEQKLRWYFKLYDVD
                     GNGCIDRDELLTIIQAIRAINPCSDTTMTAEEFTDTVFSKIDVNGDGELSLEEFIEGV
                     QKDQMLLDTLTRSLDLTRIVRRLQNGEQDEEGADEAAEAAG"
     exon            452..601
                     /gene="GUCA1A"
                     /gene_synonym="C6orf131; COD3; CORD14; GCAP; GCAP-1;
                     GCAP-I; GCAP1; GUCA; GUCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            602..695
                     /gene="GUCA1A"
                     /gene_synonym="C6orf131; COD3; CORD14; GCAP; GCAP-1;
                     GCAP-I; GCAP1; GUCA; GUCA1"
                     /inference="alignment:Splign:2.1.0"
     exon            696..1509
                     /gene="GUCA1A"
                     /gene_synonym="C6orf131; COD3; CORD14; GCAP; GCAP-1;
                     GCAP-I; GCAP1; GUCA; GUCA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1490..1495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCA1A"
                     /gene_synonym="C6orf131; COD3; CORD14; GCAP; GCAP-1;
                     GCAP-I; GCAP1; GUCA; GUCA1"
                     /note="hexamer: AATAAA"
     polyA_site      1509
                     /gene="GUCA1A"
                     /gene_synonym="C6orf131; COD3; CORD14; GCAP; GCAP-1;
                     GCAP-I; GCAP1; GUCA; GUCA1"
                     /note="major polyA site"
ORIGIN      
        1 agtggagact cttaacacca gttctctggc atctgtgagt ttgagtgtgg gccatcatct
       61 tcttccttct gctctctccc tctccacatt tcccggtacc atctgatcca tcaggccctt
      121 ctttgctcag gcctgaagga ctcaggcctg tgagagagga cggccccgtt gtcggccaag
      181 acacctttgg gcgaggagca gcgaacaggg cctgtccatc tcagacgtca gccccctgaa
      241 ggcctgagca atgggcaacg tgatggaggg aaagtcagtg gaggagctga gcagcaccga
      301 gtgccaccag tggtacaaga agttcatgac tgagtgcccc tctggccaac tcaccctcta
      361 tgagttccgc cagttcttcg gcctcaagaa cctgagcccg tcggccagcc agtacgtgga
      421 acagatgttt gagacttttg acttcaacaa ggacggctac attgatttca tggagtacgt
      481 ggcagcgctc agcttggtcc tcaaggggaa ggtggaacag aagctccgct ggtacttcaa
      541 gctctatgat gtagatggca acggctgcat tgaccgcgat gagctgctca ccatcatcca
      601 ggccattcgc gccattaacc cctgcagcga taccaccatg actgcagagg agttcaccga
      661 tacagtgttc tccaagattg acgtcaacgg ggatggggaa ctctccctgg aagagtttat
      721 agagggcgtc cagaaggacc agatgctcct ggacacactg acacgaagcc tggaccttac
      781 ccgcatcgtg cgcaggctcc agaatggcga gcaagacgag gagggggctg acgaggccgc
      841 tgaggcagcc ggctgagtgc accgcccggc tgcttctgca ctagcgggtg gggtggtatg
      901 gtggtgcctg ttggtggtgt tcttgtctta accctagata gaatctaatg aactcagagg
      961 cttagctcgc ctctttaggg tccatggtgg cagcagagag gcagaagtgg gagtccagag
     1021 ccaggaacag tgaaggatgg ttcctggccc ctctgagtga cagctggtgg cagcactcct
     1081 tgctgggggg cactgttcaa catccctctg ccgtcgggtg accccctagc ccttctgact
     1141 cctctcccag cttttcccag ctttccccac tgagcttctc cagtccatgc tcttctggac
     1201 gtggactctc tgaggcagaa ctgagctttt ccaggcctct tatggaatcc tgcagatcca
     1261 gtggctgcag cttcaatccc agtgctgcaa tcacacatcc attctgccct gggggaccct
     1321 ggagcctact tgtgcgcttt gcatttcatt gattgacgcc tcccttcaac aagcatttac
     1381 tgagcgccta ctatgtacta atgctagatg ttagatgtac aaagaagaca gttttcatcc
     1441 tctaggaact cataggctaa tggtgagaca cacagacaaa catcattata ataaaatatg
     1501 ctaagagaa
//
