LOCUS       NM_001378477            2414 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens nyctalopin (NYX), transcript variant 2, mRNA.
ACCESSION   NM_001378477 XM_017029709
VERSION     NM_001378477.3
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 2414)
  AUTHORS   Scanga,H.L., Liasis,A., Pihlblad,M.S. and Nischal,K.K.
  TITLE     NYX-related Congenital Stationary Night Blindness in Two Siblings
            due to Probable Maternal Germline Mosaicism
  JOURNAL   Ophthalmic Genet 42 (5), 588-592 (2021)
   PUBMED   34165036
  REMARK    GeneRIF: NYX-related Congenital Stationary Night Blindness in Two
            Siblings due to Probable Maternal Germline Mosaicism.
REFERENCE   2  (bases 1 to 2414)
  AUTHORS   Hayashi,T., Murakami,Y., Mizobuchi,K., Koyanagi,Y., Sonoda,K.H. and
            Nakano,T.
  TITLE     Complete congenital stationary night blindness associated with a
            novel NYX variant (p.Asn216Lys) in middle-aged and older adult
            patients
  JOURNAL   Ophthalmic Genet 42 (4), 412-419 (2021)
   PUBMED   33769208
  REMARK    GeneRIF: Complete congenital stationary night blindness associated
            with a novel NYX variant (p.Asn216Lys) in middle-aged and older
            adult patients.
REFERENCE   3  (bases 1 to 2414)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2414)
  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   5  (bases 1 to 2414)
  AUTHORS   Ivanova,M.E., Zolnikova,I.V., Gorgisheli,K.V., Atarshchikov,D.S.,
            Ghosh,P. and Barh,D.
  TITLE     Novel frameshift mutation in NYX gene in a Russian family with
            complete congenital stationary night blindness
  JOURNAL   Ophthalmic Genet 40 (6), 558-563 (2019)
   PUBMED   31826698
  REMARK    GeneRIF: Frameshift mutation in NYX gene is associated with
            congenital stationary night blindness.
REFERENCE   6  (bases 1 to 2414)
  AUTHORS   Pusch,C.M., Zeitz,C., Brandau,O., Pesch,K., Achatz,H., Feil,S.,
            Scharfe,C., Maurer,J., Jacobi,F.K., Pinckers,A., Andreasson,S.,
            Hardcastle,A., Wissinger,B., Berger,W. and Meindl,A.
  TITLE     The complete form of X-linked congenital stationary night blindness
            is caused by mutations in a gene encoding a leucine-rich repeat
            protein
  JOURNAL   Nat Genet 26 (3), 324-327 (2000)
   PUBMED   11062472
REFERENCE   7  (bases 1 to 2414)
  AUTHORS   Bech-Hansen,N.T., Naylor,M.J., Maybaum,T.A., Sparkes,R.L., Koop,B.,
            Birch,D.G., Bergen,A.A., Prinsen,C.F., Polomeno,R.C., Gal,A.,
            Drack,A.V., Musarella,M.A., Jacobson,S.G., Young,R.S. and
            Weleber,R.G.
  TITLE     Mutations in NYX, encoding the leucine-rich proteoglycan
            nyctalopin, cause X-linked complete congenital stationary night
            blindness
  JOURNAL   Nat Genet 26 (3), 319-323 (2000)
   PUBMED   11062471
REFERENCE   8  (bases 1 to 2414)
  AUTHORS   Hardcastle,A.J., David-Gray,Z.K., Jay,M., Bird,A.C. and
            Bhattacharya,S.S.
  TITLE     Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci
            RP2 and RP3 on proximal Xp
  JOURNAL   Invest Ophthalmol Vis Sci 38 (13), 2750-2755 (1997)
   PUBMED   9418727
REFERENCE   9  (bases 1 to 2414)
  AUTHORS   MacDonald,I.M., Hoang,S. and Tuupanen,S.
  TITLE     X-Linked Congenital Stationary Night Blindness
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301423
REFERENCE   10 (bases 1 to 2414)
  AUTHORS   Musarella,M.A., Weleber,R.G., Murphey,W.H., Young,R.S.,
            Anson-Cartwright,L., Mets,M., Kraft,S.P., Polemeno,R., Litt,M. and
            Worton,R.G.
  TITLE     Assignment of the gene for complete X-linked congenital stationary
            night blindness (CSNB1) to Xp11.3
  JOURNAL   Genomics 5 (4), 727-737 (1989)
   PUBMED   2574143
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z93015.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 8, 2021 this sequence version replaced NM_001378477.2.
            
            Summary: The product of this gene belongs to the small leucine-rich
            proteoglycan (SLRP) family of proteins. Defects in this gene are
            the cause of congenital stationary night blindness type 1 (CSNB1),
            also called X-linked congenital stationary night blindness
            (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized
            by impaired scotopic vision, myopia, hyperopia, nystagmus and
            reduced visual acuity. The role of other SLRP proteins suggests
            that mutations in this gene disrupt developing retinal
            interconnections involving the ON-bipolar cells, leading to the
            visual losses seen in patients with complete CSNB. [provided by
            RefSeq, Oct 2008].
            
            Transcript Variant: This variant (2) and variant 1 both encode the
            same protein.
            
            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 :: AF254868.1, SRR14372080.4358482.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMN02400308
                                           [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               :: ENST00000378220.3/
                                                ENSP00000367465.2
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-174               Z93015.9           83610-83783
            175-252             Z93015.9           84116-84193
            253-2414            Z93015.9           109758-111919
FEATURES             Location/Qualifiers
     source          1..2414
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..2414
                     /gene="NYX"
                     /gene_synonym="CLRP; CSNB1; CSNB1A; CSNB4; NBM1"
                     /note="nyctalopin"
                     /db_xref="GeneID:60506"
                     /db_xref="HGNC:HGNC:8082"
                     /db_xref="MIM:300278"
     exon            1..174
                     /gene="NYX"
                     /gene_synonym="CLRP; CSNB1; CSNB1A; CSNB4; NBM1"
                     /inference="alignment:Splign:2.1.0"
     exon            175..252
                     /gene="NYX"
                     /gene_synonym="CLRP; CSNB1; CSNB1A; CSNB4; NBM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1661
                     /gene="NYX"
                     /gene_synonym="CLRP; CSNB1; CSNB1A; CSNB4; NBM1"
                     /note="leucine-rich repeat protein"
                     /codon_start=1
                     /product="nyctalopin precursor"
                     /protein_id="NP_001365406.2"
                     /db_xref="CCDS:CCDS14256.2"
                     /db_xref="GeneID:60506"
                     /db_xref="HGNC:HGNC:8082"
                     /db_xref="MIM:300278"
                     /translation="MLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCD
                     RAGLLRVPAELPCEAVSIDLDRNGLRFLGERAFGTLPSLRRLSLRHNNLSFITPGAFK
                     GLPRLAELRLAHNGDLRYLHARTFAALSRLRRLDLAACRLFSVPERLLAELPALRELA
                     AFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHA
                     GAFGDCGVLEHLLLNDNLLAELPADAFRGLRRLRTLNLGGNALDRVARAWFADLAELE
                     LLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPGFFLGRLFLFRNPWC
                     CDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTS
                     SPGPSPEPAATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRGVGGAG
                     RQPWFLLASCLLPSVAQHVVFGLQMD"
     exon            253..2414
                     /gene="NYX"
                     /gene_synonym="CLRP; CSNB1; CSNB1A; CSNB4; NBM1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aaacctgcac aagtaactat tcctcttcac cccttcctcc cgtcccccca cccccacctt
       61 tacttctctc tcaaaccatt ttcagcatct gtggctgcct gacttgggag atggatgggc
      121 tgagggagtg gagggggacc tcagaggagc aggaccaggg agactcccag gacggtaggg
      181 gtcccacggc tgggtggtcc taagccactg ggtggatgaa aggccgaggg atgttggtcc
      241 tgcttctgca tgcggtggtc ctcggcctgc ccagcgcctg ggccgtgggg gcctgcgccc
      301 gcgcttgtcc cgccgcctgc gcctgcagca ccgtggagcg cggctgctcg gtgcgctgcg
      361 accgcgcggg cctcctgcgg gtgccggccg agctcccgtg cgaggcggtc tccatcgacc
      421 tggaccggaa cggcctgcgc ttcctgggcg agcgagcctt cggcacgctg ccgtccttgc
      481 gccgcctgtc gctgcgccac aacaacctgt ccttcatcac gcccggcgcc ttcaagggcc
      541 tgccgcgcct ggctgagctg cgcctggcgc acaacggcga cctgcgctac ctgcacgcgc
      601 gcaccttcgc ggcgctcagc cgcctgcgcc gcctagacct agcagcctgc cgcctcttca
      661 gcgtgcccga gcgcctcctg gccgaactgc cggccctgcg cgaactcgcc gccttcgaca
      721 acctgttccg ccgcgtgccg ggcgcgctgc gcggcctggc caacctgacg cacgcgcacc
      781 tggagcgcgg ccgcatcgag gcggtggcct ccagctcgct gcagggcctg cgccgcctgc
      841 gctcgctcag cctgcaggcc aaccgcgtcc gtgccgtgca cgctggcgcc ttcggggact
      901 gtggcgtcct ggagcatctg ctgctcaacg acaacctgct ggccgagctc ccggccgacg
      961 ccttccgcgg cctgcggcgc ctgcgcacgc tcaacctggg tggcaacgcg ctggaccgcg
     1021 tggcgcgcgc ctggttcgct gacctggccg agctcgagct gctctacctg gaccgcaaca
     1081 gcatcgcctt cgtggaggag ggcgccttcc agaacctctc gggtctcctc gcgctgcacc
     1141 tcaacggcaa ccgcctcacc gtgctcgcct gggtcgcctt ccagcccggc ttcttcctgg
     1201 gccgcctctt cctcttccgc aacccgtggt gctgcgactg ccgtctggag tggctgaggg
     1261 actggatgga gggctccgga cgtgtcaccg acgtgccgtg cgcctccccg ggctccgtgg
     1321 ccggcctgga cctcagccag gtgaccttcg ggcgctcctc cgatggcctc tgtgtggacc
     1381 ccgaggagct gaacctcacc acgtccagtc caggcccgtc cccagaacca gcggccacca
     1441 ccgtgagcag gttcagcagc ctcctctcca agctgctggc cccgagggtc ccggtggagg
     1501 aggcggccaa caccactggg gggctggcca acgcctccct gtccgacagc ctctcctccc
     1561 gtggggtggg aggcgcgggc cggcagccct ggtttctcct cgcctcttgt ctcctgccca
     1621 gcgtggccca gcacgtggtg tttggcctgc agatggactg acctggccag aggggggaaa
     1681 gtttgcttaa ctgggcttga gtgtgtttgt ggtaagggga gaggagccgg aatggagggc
     1741 agaggtgaaa atcccagtgg agggtggaag gaaccgtttg cctccagaga tggccccagg
     1801 gagaacacag ggacgtgcca ctcgaggggg aggatggtat ggatttctgc ttttgtcaca
     1861 cgggcatcca ttggaaaaga gaagcaagaa tgaacgtggg ccctcgggtg ggaagactag
     1921 gaatcggaag cttctagggc ttcacatccc ttcccctccc ctccccttcc cctcatcttc
     1981 caggcaacag tgcctgcaag gcctgaatta gagagacttc cattggctaa gtagttaaga
     2041 gccgtcccat ttctcctggc ggggtaaccc attacaccga agtcctttgt tttctaccac
     2101 aatcctcctc ctcctctcca ggggcctgga aacactagga ttcaggaagg taggcaggac
     2161 gtgagagaag ggagatggga gagagattta agacaaaggg tggcggtggt tcctggggtc
     2221 tgagatgtgt taggaggcgt ttaaaacaaa gatccagttc atttactcca cagttattcc
     2281 cagggctggc cctagccaca aaggaacttt agggcagggt agggaaaaaa ggggcagcag
     2341 ggggtgtgtt tgtggacaaa taaatttgta aagtccgagg attaaaaaaa aaaaaaggtt
     2401 aaaccggttt ctct
//
