LOCUS       NM_000330               3031 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens retinoschisin 1 (RS1), mRNA.
ACCESSION   NM_000330
VERSION     NM_000330.4
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 3031)
  AUTHORS   Chowdhury,S., Chermakani,P., Baliga,G., Anjanamurthy,R. and
            Sundaresan,P.
  TITLE     Genotypic and phenotypic diversity in X-linked retinoschisis:
            Findings from a South Indian patient cohort
  JOURNAL   Indian J Ophthalmol 72 (6), 902-911 (2024)
   PUBMED   38317323
  REMARK    GeneRIF: Genotypic and phenotypic diversity in X-linked
            retinoschisis: Findings from a South Indian patient cohort.
REFERENCE   2  (bases 1 to 3031)
  AUTHORS   Duan,C., Ding,C., Sun,X., Mao,S., Liang,Y., Liu,X., Ding,X.,
            Chen,J. and Tang,S.
  TITLE     Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation
            exhibit a photoreceptor developmental delay and are rescued by gene
            augmentation therapy
  JOURNAL   Stem Cell Res Ther 15 (1), 152 (2024)
   PUBMED   38816767
  REMARK    GeneRIF: Retinal organoids with X-linked retinoschisis RS1 (E72K)
            mutation exhibit a photoreceptor developmental delay and are
            rescued by gene augmentation therapy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3031)
  AUTHORS   Chatterjee,S., Gupta,S., Kirola,L., Chandra,A., Mukherjee,A. and
            Mutsuddi,M.
  TITLE     Identification and molecular characterization of two recurrent
            missense mutations in the RS1 gene in two families with X-linked
            retinoschisis from North India
  JOURNAL   Am J Med Genet A 191 (10), 2524-2535 (2023)
   PUBMED   37317958
  REMARK    GeneRIF: Identification and molecular characterization of two
            recurrent missense mutations in the RS1 gene in two families with
            X-linked retinoschisis from North India.
REFERENCE   4  (bases 1 to 3031)
  AUTHORS   da Cruz,N.F.S., Sengillo,J.D., Al-Khersan,H., Negron,C.I.,
            Felder,M.B., Patel,N.A. and Berrocal,A.M.
  TITLE     Vitreous Hemorrhage in Pediatric Patients With X-Linked
            Retinoschisis: Characteristics and Outcomes
  JOURNAL   Ophthalmic Surg Lasers Imaging Retina 54 (9), 513-518 (2023)
   PUBMED   37642422
  REMARK    GeneRIF: Vitreous Hemorrhage in Pediatric Patients With X-Linked
            Retinoschisis: Characteristics and Outcomes.
REFERENCE   5  (bases 1 to 3031)
  AUTHORS   Heymann,J.B., Vijayasarathy,C., Fariss,R.N. and Sieving,P.A.
  TITLE     Advances in understanding the molecular structure of retinoschisin
            while questions remain of biological function
  JOURNAL   Prog Retin Eye Res 95, 101147 (2023)
   PUBMED   36402656
  REMARK    GeneRIF: Advances in understanding the molecular structure of
            retinoschisin while questions remain of biological function.
            Review article
REFERENCE   6  (bases 1 to 3031)
  AUTHORS   Shastry,B.S., Hejtmancik,F.J. and Trese,M.T.
  TITLE     Recurrent missense (R197C) and nonsense (Y89X) mutations in the
            XLRS1 gene in families with X-linked retinoschisis
  JOURNAL   Biochem Biophys Res Commun 256 (2), 317-319 (1999)
   PUBMED   10079181
REFERENCE   7  (bases 1 to 3031)
  AUTHORS   Hotta,Y., Fujiki,K., Hayakawa,M., Ohta,T., Fujimaki,T., Tamaki,K.,
            Yokoyama,T., Kanai,A., Hirakata,A., Hida,T., Nishina,S. and
            Azuma,N.
  TITLE     Japanese juvenile retinoschisis is caused by mutations of the XLRS1
            gene
  JOURNAL   Hum Genet 103 (2), 142-144 (1998)
   PUBMED   9760195
REFERENCE   8  (bases 1 to 3031)
  AUTHORS   Sauer,C.G., Gehrig,A., Warneke-Wittstock,R., Marquardt,A.,
            Ewing,C.C., Gibson,A., Lorenz,B., Jurklies,B. and Weber,B.H.
  TITLE     Positional cloning of the gene associated with X-linked juvenile
            retinoschisis
  JOURNAL   Nat Genet 17 (2), 164-170 (1997)
   PUBMED   9326935
REFERENCE   9  (bases 1 to 3031)
  AUTHORS   Sieving,P.A., MacDonald,I.M. and Hoang,S.
  TITLE     X-Linked Congenital Retinoschisis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301401
REFERENCE   10 (bases 1 to 3031)
  AUTHORS   Alitalo,T., Kruse,T.A. and de la Chapelle,A.
  TITLE     Refined localization of the gene causing X-linked juvenile
            retinoschisis
  JOURNAL   Genomics 9 (3), 505-510 (1991)
   PUBMED   2032721
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z94056.1, DQ426892.1,
            AF014459.1, Z92542.2 and BQ185379.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000330.3.
            
            Summary: This gene encodes an extracellular protein that plays a
            crucial role in the cellular organization of the retina. The
            encoded protein is assembled and secreted from photoreceptors and
            bipolar cells as a homo-oligomeric protein complex. Mutations in
            this gene are responsible for X-linked retinoschisis, a common,
            early-onset macular degeneration in males that results in a
            splitting of the inner layers of the retina and severe loss in
            vision. [provided by RefSeq, Oct 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF014459.1, SRR14372080.2647552.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA2142363 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379984.4/ ENSP00000369320.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 Z94056.1           7149-7153           c
            6-25                DQ426892.1         1-20
            26-772              AF014459.1         1-747
            773-2380            Z92542.2           120822-122429       c
            2381-3031           BQ185379.1         15-665              c
FEATURES             Location/Qualifiers
     source          1..3031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.13"
     gene            1..3031
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /note="retinoschisin 1"
                     /db_xref="GeneID:6247"
                     /db_xref="HGNC:HGNC:10457"
                     /db_xref="MIM:300839"
     exon            1..92
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..715
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /note="X-linked juvenile retinoschisis protein"
                     /codon_start=1
                     /product="retinoschisin precursor"
                     /protein_id="NP_000321.1"
                     /db_xref="CCDS:CCDS14187.1"
                     /db_xref="GeneID:6247"
                     /db_xref="HGNC:HGNC:10457"
                     /db_xref="MIM:300839"
                     /translation="MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQG
                     GPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKAR
                     LNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDER
                     LNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLE
                     CVSKCA"
     exon            93..118
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            119..224
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            225..366
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            367..562
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /inference="alignment:Splign:2.1.0"
     exon            563..3031
                     /gene="RS1"
                     /gene_synonym="RS; XLRS1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agttcagtaa ggtagagctt tggccgagga cgaggggaag atgtcacgca agatagaagg
       61 ctttttgtta ttacttctct ttggctatga agccacattg ggattatcgt ctaccgagga
      121 tgaaggcgag gacccctggt accaaaaagc atgcaagtgc gattgccaag gaggacccaa
      181 tgctctgtgg tctgcaggtg ccacctcctt ggactgtata ccagaatgcc catatcacaa
      241 gcctctgggt ttcgagtcag gggaggtcac accggaccag atcacctgct ctaacccgga
      301 gcagtatgtg ggctggtatt cttcgtggac tgcaaacaag gcccggctca acagtcaagg
      361 ctttgggtgt gcctggctct ccaagttcca ggacagtagc cagtggttac agatagatct
      421 gaaggagatc aaagtgattt cagggatcct cacccagggg cgctgtgaca tcgatgagtg
      481 gatgaccaag tacagcgtgc agtacaggac cgatgagcgc ctgaactgga tttactacaa
      541 ggaccagact ggaaacaacc gggtcttcta tggcaactcg gaccgcacct ccacggttca
      601 gaacctgctg cggcccccca tcatctcccg cttcatccgc ctcatcccgc tgggctggca
      661 cgtccgcatt gccatccgga tggagctgct ggagtgcgtc agcaagtgtg cctgatgcct
      721 gcctcagctc ggcgcctgcc agggggtgac tggcacagag cgggccgtag gggaccccct
      781 cacacaccac cgagatggac agggctatat ttcgcaaagc aattgtaact gcagtgctgg
      841 gtagataatt tttttttttt taagatatag ctttctgatt tcaatgaaat aaaaatgaac
      901 ttattcccca ctcagggcca gagaaagtca gaacaaagaa aatgtccccg aaacgaattt
      961 tcttacaaaa gcctaagtag caggggtaat tttctgctca ttttttgtct cagtgatact
     1021 gtgaaaggtg cagtctcagg ggaacacaaa gcagccctga taatttgaaa attcatttgc
     1081 tttaccacat tcaagacaga aacatacagt ttcctaaagc ctggctttga atgcagaagg
     1141 gagcagctcc tcctagttaa gtttccacta aatcatcgcc aaagaggact tcagagccct
     1201 ggggaggcag ctgagggtct caagggtgac tgggtggcag ggatgagtgc ggtgggtgag
     1261 aatcccggtg ccctgagagg ctatacgtga caaatgacca aaagcccaag gtaggggagt
     1321 ttcctctgct cacagttctt accttcaagg cggatctggg cttccaccct catgaacaca
     1381 gggattgggg agggaccaga gcgcccaata cacacagctc cattatgcaa tccattccag
     1441 caaattcccc gtgtctgtgg tcaccattta ggtgatcata caggacaggc tgcacatctc
     1501 agtatatgta gggaccccaa atgaccacaa cacagtacaa ttgcccttta cctagggcta
     1561 ccatttccta gcaaaccaaa catagttcga gaacagctgg cccaggagct accactggct
     1621 actcagagga ggctcattag ctggctacat gcttcgcagg aagtgggaag gactcacatc
     1681 ataaaaagga ccatgtagct ttttccctga aagcttctca ccctccaccc tctgccttgc
     1741 aatacgcaaa ctgcgcctgc tcctgaaaag ctctctggga aggaatgggc ctggctttcc
     1801 gttcctggag gcggcgcctt agattgggag gcctcattgg ccacttagag cgcagcctga
     1861 gtttccaggc cccttcctgg gagaggctgt taacacgggg gaggggcagg agagggatat
     1921 ggagagcagg tggtggaatc agaggacgag gctgctctaa agactgttct ggccccagac
     1981 acagggtagt ctttgctagc agctcatttc cgagttactt ttcattttca aatgccaagg
     2041 caagtgacta gactcgcgct aatacagtgc tggacaacac attcaccttt tctgtgaaca
     2101 ggcagccttc taaaagcccc aaacatcctt cttgatgctt tgggggctca attattttat
     2161 atccaaccca gcatctttct agtccctatg ctgtatgctt gaacttcgga aaatgctttt
     2221 ccccgcccaa tcttctctca aatataaaca catcacacag ggtgttgggg gtgggggggg
     2281 ggggtggggg gacttatccc tggccttagg acacaggaca aatctatttt ggatagaaat
     2341 gcctgaacag agacccttat ttggaaaggt gaattaactt tggtcacgac atggactgtc
     2401 agacaaaatg gcagtatcct aagagttaag gcacatcaaa cacaggagtc gagagagtgc
     2461 agttcaggga aaaaggagag gaggaaacag tgaggcaggg agaaaggctt tccaaataag
     2521 agttcatgtt ggaaactttt gtcacggctt tattgagatt aagttcacat acaatttgta
     2581 tccatttaaa gtgtacaatt tgatgacttt tggtatattc agagttgtgc aaccattatc
     2641 actagatcaa ttttagaaag tttatcaccc caaagagaaa tcctgcaccc atcagccaac
     2701 actccccaac ccatcggcca ccccaagccc tctgcaacca cgaatcgact gtctctgtag
     2761 attggccttc tggacgttct acataaatga aatcatatag tatgtggtat ttcgtgactg
     2821 gcttctttca cttagcatag tgttttaaag ttcatccacg ttataacatg tgtatcacta
     2881 tgtcacttgt cactcctttt tattgctgaa catcattgtt cagtatcatg tcaagagcac
     2941 attgttattt atccattcat ccattgatgg atatttgggt ttccactctt tagctattat
     3001 gaataatgct gctatgaaca tttgtgtata a
//
