LOCUS       NM_000541               1596 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens S-antigen visual arrestin (SAG), mRNA.
ACCESSION   NM_000541
VERSION     NM_000541.5
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 1596)
  AUTHORS   Guet-McCreight,A., Chameh,H.M., Mahallati,S., Wishart,M.,
            Tripathy,S.J., Valiante,T.A. and Hay,E.
  TITLE     Age-dependent increased sag amplitude in human pyramidal neurons
            dampens baseline cortical activity
  JOURNAL   Cereb Cortex 33 (8), 4360-4373 (2023)
   PUBMED   36124673
REFERENCE   2  (bases 1 to 1596)
  AUTHORS   Tawfik,C.A., Elbagoury,N.M., Khater,N.I. and Essawi,M.L.
  TITLE     Mutation analysis reveals novel and known mutations in SAG gene in
            first two Egyptian families with Oguchi disease
  JOURNAL   BMC Ophthalmol 22 (1), 217 (2022)
   PUBMED   35549688
  REMARK    GeneRIF: Mutation analysis reveals novel and known mutations in SAG
            gene in first two Egyptian families with Oguchi disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1596)
  AUTHORS   Pappalardo,J., Heath Jeffery,R.C., Thompson,J.A., Charng,J.,
            Chelva,E.S., Constable,I.J., McLaren,T.L., Lamey,T.M., De
            Roach,J.N. and Chen,F.K.
  TITLE     Progressive sector retinitis pigmentosa due to c.440G>T mutation in
            SAG in an Australian family
  JOURNAL   Ophthalmic Genet 42 (1), 62-70 (2021)
   PUBMED   33047631
  REMARK    GeneRIF: Progressive sector retinitis pigmentosa due to c.440G>T
            mutation in SAG in an Australian family.
REFERENCE   4  (bases 1 to 1596)
  AUTHORS   Liu,X., Gao,L., Wang,G., Long,Y., Ren,J., Fujinami,K., Meng,X. and
            Li,S.
  TITLE     Oguchi disease caused by a homozygous novel SAG splicing alteration
            associated with the multiple evanescent white dot syndrome: A
            15-month follow-up
  JOURNAL   Doc Ophthalmol 141 (3), 217-226 (2020)
   PUBMED   32333190
  REMARK    GeneRIF: Oguchi disease caused by a homozygous novel SAG splicing
            alteration associated with the multiple evanescent white dot
            syndrome: A 15-month follow-up.
REFERENCE   5  (bases 1 to 1596)
  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   6  (bases 1 to 1596)
  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 1596)
  AUTHORS   Huang,S.K., Klein,D.C. and Korf,H.W.
  TITLE     Immunocytochemical demonstration of rod-opsin, S-antigen, and
            neuron-specific proteins in the human pineal gland
  JOURNAL   Cell Tissue Res 267 (3), 493-498 (1992)
   PUBMED   1533347
REFERENCE   8  (bases 1 to 1596)
  AUTHORS   Yamaki,K., Tsuda,M., Kikuchi,T., Chen,K.H., Huang,K.P. and
            Shinohara,T.
  TITLE     Structural organization of the human S-antigen gene. cDNA, amino
            acid, intron, exon, promoter, in vitro transcription, retina, and
            pineal gland
  JOURNAL   J Biol Chem 265 (34), 20757-20762 (1990)
   PUBMED   2249983
REFERENCE   9  (bases 1 to 1596)
  AUTHORS   Yamaki,K., Tsuda,M. and Shinohara,T.
  TITLE     The sequence of human retinal S-antigen reveals similarities with
            alpha-transducin
  JOURNAL   FEBS Lett 234 (1), 39-43 (1988)
   PUBMED   3164688
  REMARK    Erratum:[FEBS Lett 1988 Aug 29;236(2):507]
REFERENCE   10 (bases 1 to 1596)
  AUTHORS   McKechnie,N.M., Al-Mahdawi,S., Dutton,G. and Forrester,J.V.
  TITLE     Ultrastructural localization of retinal S antigen in the human
            retina
  JOURNAL   Exp Eye Res 42 (5), 479-487 (1986)
   PUBMED   3720866
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013726.7, DQ980620.1,
            BQ639030.1, BQ636894.1 and BU734369.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_000541.4.
            
            Summary: Members of arrestin/beta-arrestin protein family are
            thought to participate in agonist-mediated desensitization of
            G-protein-coupled receptors and cause specific dampening of
            cellular responses to stimuli such as hormones, neurotransmitters,
            or sensory signals. S-arrestin, also known as S-antigen, is a major
            soluble photoreceptor protein that is involved in desensitization
            of the photoactivated transduction cascade. It is expressed in the
            retina and the pineal gland and inhibits coupling of rhodopsin to
            transducin in vitro. Additionally, S-arrestin is highly antigenic,
            and is capable of inducing experimental autoimmune uveoretinitis.
            Mutations in this gene have been associated with Oguchi disease, a
            rare autosomal recessive form of night blindness. [provided by
            RefSeq, Jul 2008].
            
            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.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409110.6/ ENSP00000386444.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                AC013726.7         112520-112546       c
            28-634              DQ980620.1         1-607
            635-936             BQ639030.1         327-628
            937-1523            BQ636894.1         4-590
            1524-1596           BU734369.1         19-91               c
FEATURES             Location/Qualifiers
     source          1..1596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..1596
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="S-antigen visual arrestin"
                     /db_xref="GeneID:6295"
                     /db_xref="HGNC:HGNC:10521"
                     /db_xref="MIM:181031"
     exon            1..207
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            208..310
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     CDS             236..1453
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="arrestin 1; rod photoreceptor arrestin; retinal
                     S-antigen (48 KDa protein); 48 kDa protein; S-antigen;
                     retina and pineal gland (arrestin); rod arrestin"
                     /codon_start=1
                     /product="S-arrestin"
                     /protein_id="NP_000532.2"
                     /db_xref="CCDS:CCDS46545.1"
                     /db_xref="GeneID:6295"
                     /db_xref="HGNC:HGNC:10521"
                     /db_xref="MIM:181031"
                     /translation="MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQP
                     VDGVVLVDPDLVKGKKVYVTLTCAFRYGQEDIDVIGLTFRRDLYFSRVQVYPPVGAAS
                     TPTKLQESLLKKLGSNTYPFLLTFPDYLPCSVMLQPAPQDSGKSCGVDFEVKAFATDS
                     TDAEEDKIPKKSSVRLLIRKVQHAPLEMGPQPRAEAAWQFFMSDKPLHLAVSLNKEIY
                     FHGEPIPVTVTVTNNTEKTVKKIKAFVEQVANVVLYSSDYYVKPVAMEEAQEKVPPNS
                     TLTKTLTLLPLLANNRERRGIALDGKIKHEDTNLASSTIIKEGIDRTVLGILVSYQIK
                     VKLTVSGFLGELTSSEVATEVPFRLMHPQPEDPAKESYQDANLVFEEFARHNLKDAGE
                     AEEGKRDKNDVDE"
     exon            311..371
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            372..416
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            417..610
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            611..670
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            671..747
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            748..883
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            884..968
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1041
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1179
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1257
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1281
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1337
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1347
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     exon            1348..1596
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1571..1576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="hexamer: AATAAA"
     polyA_site      1596
                     /gene="SAG"
                     /gene_synonym="RP47; RP96; S-AG"
                     /note="major polyA site"
ORIGIN      
        1 gagacctgga tgctgggcat cctcgctaga tcccctacaa attccccaca tacgtaggcc
       61 aggagcctca gcggtgcccc ttcaggctca tctggcaaga cggtaccagc ttgctcagaa
      121 caggggctgg ctattcatca tctcagagca tagagaccct ctccttgcca cccggccctt
      181 cccacctggt tggtgacaaa tcacaaggtg gtagaagttg ccagggacag ataacatggc
      241 agccagcggg aagaccagca agtccgaacc gaaccatgtt atcttcaaga agatctcccg
      301 ggacaaatcg gtgaccatct acctggggaa cagagactac atagaccatg tcagccaagt
      361 ccagcctgtg gatggtgtcg tgttggttga tcctgatctt gtgaagggaa agaaagtgta
      421 tgtcactctg acctgcgcct tccgctatgg ccaagaggac attgacgtga tcggcttgac
      481 cttccgcagg gacctgtact tctcccgggt ccaggtgtat cctcctgtgg gggccgcgag
      541 cacccccaca aaactgcaag agagcctgct taaaaagctg gggagcaaca cgtacccctt
      601 tctcctgacg tttcctgact acttgccctg ttcagtgatg ttgcagccag ctccacaaga
      661 ttcagggaag tcctgtgggg ttgactttga ggtcaaagca ttcgccacag acagcaccga
      721 tgccgaagag gacaaaatcc ccaagaagag ctccgtgcga ttactgatcc gcaaagtaca
      781 gcatgcccca cttgagatgg gtccccagcc ccgagctgag gcggcctggc agttcttcat
      841 gtctgacaag cccctgcacc ttgcggtctc tctcaacaaa gagatctatt tccatgggga
      901 gcccatccct gtgaccgtga ctgtcaccaa taacacagag aagaccgtga agaagattaa
      961 agcattcgtg gaacaggtgg ccaatgtggt tctctactcg agtgattatt acgtcaagcc
     1021 cgtggctatg gaggaagcgc aagaaaaagt gccaccaaac agcactttga ccaagacgct
     1081 gacgctgctg cccttgctgg ctaacaatcg agaaaggaga ggcattgccc tggatgggaa
     1141 aatcaagcac gaggacacaa accttgcctc cagcaccatc attaaggagg gcatagaccg
     1201 gaccgtcctg ggaatcctgg tgtcttacca gatcaaggtg aagctcacag tgtcaggctt
     1261 tctgggagag ctcacctcca gtgaagtcgc cactgaggtc ccattccgcc tcatgcaccc
     1321 tcagcctgag gacccagcta aggaaagtta tcaggatgca aatttagttt ttgaggagtt
     1381 tgctcgccat aatctgaaag atgcaggaga agctgaggag gggaagagag acaagaatga
     1441 cgttgatgag tgaagatgtc ggctcaggat gccggaaaat gacctgtagt taccagtgca
     1501 acgagcaaag ccccacagtt tagtcctttg gagttatgct gcgtatgaaa ggatgagtct
     1561 tcttccgaga aataaagctt gtttgttctc ccctgg
//
