LOCUS       NM_002098               2270 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens guanylate cyclase activator 1B (GUCA1B), mRNA.
ACCESSION   NM_002098
VERSION     NM_002098.6
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 2270)
  AUTHORS   Avesani,A., Marino,V., Zanzoni,S., Koch,K.W. and Dell'Orco,D.
  TITLE     Molecular properties of human guanylate cyclase-activating protein
            2 (GCAP2) and its retinal dystrophy-associated variant G157R
  JOURNAL   J Biol Chem 296, 100619 (2021)
   PUBMED   33812995
  REMARK    GeneRIF: Molecular properties of human guanylate cyclase-activating
            protein 2 (GCAP2) and its retinal dystrophy-associated variant
            G157R.
REFERENCE   2  (bases 1 to 2270)
  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 2270)
  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    GeneRIF: GCAP1 and GCAP2 bound to different regions on the target
            guanylate cyclase type 1 with submicromolar affinity (apparent
            KD-values of 663 +/- 121 nM and 231 +/- 63 nM for Ca(2+)-free GCAP1
            and GCAP2, respectively).
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2270)
  AUTHORS   Peshenko,I.V., Olshevskaya,E.V. and Dizhoor,A.M.
  TITLE     Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1)
            Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP)
            Binding Interface
  JOURNAL   J Biol Chem 290 (32), 19584-19596 (2015)
   PUBMED   26100624
  REMARK    GeneRIF: Dimerization domain of RETGC1 is an essential part of
            GCAP1 and GCAP2 binding interface.
REFERENCE   5  (bases 1 to 2270)
  AUTHORS   Peshenko,I.V., Olshevskaya,E.V. and Dizhoor,A.M.
  TITLE     Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1)
            domains in binding guanylyl cyclase-activating proteins (GCAPs)
  JOURNAL   J Biol Chem 290 (11), 6913-6924 (2015)
   PUBMED   25616661
  REMARK    GeneRIF: The GCAP1 and GCAP2 binding site(s) overlaps within the
            kinase homology and/or dimerization domains of retinal GC1.
REFERENCE   6  (bases 1 to 2270)
  AUTHORS   Otto-Bruc,A., Fariss,R.N., Haeseleer,F., Huang,J., Buczylko,J.,
            Surgucheva,I., Baehr,W., Milam,A.H. and Palczewski,K.
  TITLE     Localization of guanylate cyclase-activating protein 2 in mammalian
            retinas
  JOURNAL   Proc Natl Acad Sci U S A 94 (9), 4727-4732 (1997)
   PUBMED   9114059
REFERENCE   7  (bases 1 to 2270)
  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   8  (bases 1 to 2270)
  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   9  (bases 1 to 2270)
  AUTHORS   Wiegand,R.C., Kato,J., Huang,M.D., Fok,K.F., Kachur,J.F. and
            Currie,M.G.
  TITLE     Human guanylin: cDNA isolation, structure, and activity
  JOURNAL   FEBS Lett 311 (2), 150-154 (1992)
   PUBMED   1327879
REFERENCE   10 (bases 1 to 2270)
  AUTHORS   de Sauvage,F.J., Keshav,S., Kuang,W.J., Gillett,N., Henzel,W. and
            Goeddel,D.V.
  TITLE     Precursor structure, expression, and tissue distribution of human
            guanylin
  JOURNAL   Proc Natl Acad Sci U S A 89 (19), 9089-9093 (1992)
   PUBMED   1409606
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.
            
            On Nov 29, 2018 this sequence version replaced NM_002098.5.
            
            Summary: The protein encoded by this gene is a calcium-binding
            protein that activates photoreceptor guanylate cyclases. This gene
            may have arisen due to a gene duplication event since there is a
            highly similar gene clustered with it on chromosome 6. Mutations in
            this gene can cause a form of retinitis pigmentosa. [provided by
            RefSeq, Nov 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 :: BX537393.1, BQ636025.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000230361.4/
                                                ENSP00000230361.3
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-343               AL096814.26        105259-105601
            344-493             AL096814.26        111484-111633
            494-611             AL096814.26        114418-114535
            612-2270            AL096814.26        115273-116931
FEATURES             Location/Qualifiers
     source          1..2270
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..2270
                     /gene="GUCA1B"
                     /gene_synonym="GCAP 2; GCAP-2; GCAP-II; GCAP2; GUCA2;
                     RP48"
                     /note="guanylate cyclase activator 1B"
                     /db_xref="GeneID:2979"
                     /db_xref="HGNC:HGNC:4679"
                     /db_xref="MIM:602275"
     exon            1..343
                     /gene="GUCA1B"
                     /gene_synonym="GCAP 2; GCAP-2; GCAP-II; GCAP2; GUCA2;
                     RP48"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..739
                     /gene="GUCA1B"
                     /gene_synonym="GCAP 2; GCAP-2; GCAP-II; GCAP2; GUCA2;
                     RP48"
                     /note="guanylate cyclase-activating protein, photoreceptor
                     2; guanylate cyclase activator 1B (retina)"
                     /codon_start=1
                     /product="guanylyl cyclase-activating protein 2"
                     /protein_id="NP_002089.4"
                     /db_xref="CCDS:CCDS4865.1"
                     /db_xref="GeneID:2979"
                     /db_xref="HGNC:HGNC:4679"
                     /db_xref="MIM:602275"
                     /translation="MGQEFSWEEAEAAGEIDVAELQEWYKKFVMECPSGTLFMHEFKR
                     FFKVTDDEEASQYVEGMFRAFDKNGDNTIDFLEYVAALNLVLRGTLEHKLKWTFKIYD
                     KDGNGCIDRLELLNIVEGIYQLKKACRRELQTEQGQLLTPEEVVDRIFLLVDENGDGQ
                     LSLNEFVEGARRDKWVMKMLQMDMNPSSWLAQQRRKSAMF"
     exon            344..493
                     /gene="GUCA1B"
                     /gene_synonym="GCAP 2; GCAP-2; GCAP-II; GCAP2; GUCA2;
                     RP48"
                     /inference="alignment:Splign:2.1.0"
     exon            494..611
                     /gene="GUCA1B"
                     /gene_synonym="GCAP 2; GCAP-2; GCAP-II; GCAP2; GUCA2;
                     RP48"
                     /inference="alignment:Splign:2.1.0"
     exon            612..2270
                     /gene="GUCA1B"
                     /gene_synonym="GCAP 2; GCAP-2; GCAP-II; GCAP2; GUCA2;
                     RP48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2246..2251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUCA1B"
                     /gene_synonym="GCAP 2; GCAP-2; GCAP-II; GCAP2; GUCA2;
                     RP48"
                     /note="hexamer: AATAAA"
     polyA_site      2270
                     /gene="GUCA1B"
                     /gene_synonym="GCAP 2; GCAP-2; GCAP-II; GCAP2; GUCA2;
                     RP48"
                     /note="major polyA site"
ORIGIN      
        1 agtcacccag gagatgatgg agaggctgat caggcctcct ggaaagggag gaagagggcc
       61 ctagttggag agatccatca gcagaagcca gggaggagat acagaccctt gctccctgat
      121 gctcctcagg gctagcatgg ggcaggagtt tagctgggag gaggcggagg cagctggcga
      181 gatagatgtg gcggagctcc aggagtggta caagaagttt gtgatggagt gccccagcgg
      241 cacactcttt atgcatgagt ttaagcgctt cttcaaggtc acagacgatg aggaggcctc
      301 ccagtatgta gagggcatgt tccgagcctt cgacaagaat ggggacaaca ccatcgactt
      361 cctggagtac gtggcagctc tgaatctcgt gctgaggggc accctggagc acaagctgaa
      421 gtggacattc aagatctatg ataaggatgg caatggctgc atcgaccgcc tggagctact
      481 caacattgtg gagggaattt accagctgaa gaaagcctgc cggcgagagc tacaaactga
      541 gcaaggccag ctgctcacac ccgaggaggt cgtggacagg atcttcctcc tggtggatga
      601 gaatggagat ggccagctgt ctctgaacga gtttgttgaa ggtgcccgtc gggacaagtg
      661 ggtgatgaag atgctgcaga tggacatgaa tcccagcagc tggctcgctc agcagagacg
      721 gaaaagtgcc atgttctgag gagtctgggg cccctccacg actccaggct cacccaggtt
      781 tccagggtag taggagggtc cctggctcag cctgctcatg cccactcttc ccctggtgtt
      841 gacttcctgg caccccctgt gcagggctga gtggggatgg ggaagggctg ctgggtttga
      901 agtggccaac agggcatagt ccattttgga ggagtccctg ggatggtgaa gggaattcag
      961 ttacttttcc tgttcagccg ctcctgggag gactgtgcct tggctgggtg gttgtggggc
     1021 tcccacagtt tctgggtgtt ctcagttgga agcaagagcc aactgagggg tgagggtccc
     1081 acagaccaaa tcagaaatga gaacacaaag actggtagga ggcaggggtg ggagggtgtt
     1141 gagactgaag aaaaggcagg agttgccggg cacggtggct cacgcctgta atcccagcac
     1201 tttgggaggc cgaggcgggc agatcacgag gtcaggagat cgagaccatc ctggctaaca
     1261 cggggtgaaa ccccgtctct actaaaaata caaaaaatca gccgggtgag gtggcgggcg
     1321 cctgtagtcc cagctactca ggaggctgag gcaagagaat ggcgtgaacc ccagggggcc
     1381 gagcctacag tgagccgaga ttgcgccact gcactccagc ctggacgaca gtgagactcc
     1441 gtctcaaaaa aaaaaaaaga aagaaaagaa aaggcaggag ttttgggggg cagggggcag
     1501 caataattct ataacttccg ggatgctgag gggcgttcat ggggaggacc ctggcctcct
     1561 cctccccaag gcatcctcac cagtggtgtc aacaggaaaa atggcagcaa atacgctgca
     1621 ggctgtggtc tttctgcctt tgaaagggtc agctgtactt aaagggactg tttcagctct
     1681 gcctgggtgc tgctctggga ccccctgctg ccaacccacc actcccccaa caatcctctc
     1741 tttccatcca tatcccccag tatggacctt ccacaactcc cagccataag ctgaatgttt
     1801 ctctttaaag gatggagaaa acttctgtct gtctctggca agaattgggg gactgttgac
     1861 tgggattgtg ggctgggctt ggcttctaac tgctgtgtga cccaagacag ccacttctcc
     1921 tccctaacct tggttatgtc ttggcagcac agtgagcagg tcggactagg cgaacagttt
     1981 tggattattg tgtttttaga tgtggaatta ttttttgtta tataaactct tatgtgtaac
     2041 cccaatatag aaactagatt aaaagggagt ctctctggtt gaaaggggag ctgagtaccc
     2101 tctggaactg gaggcacctc tgaaaaaagc aaactgaaaa ccagtgccct gggtcactgt
     2161 tactcctata agacagttta aagtgagacc tggaaaaaca tttgctttac cttgaataga
     2221 taggttttta tgttggtata taagaaataa aactaaccta ttaaacctga
//
