ID NYX_HUMAN Reviewed; 476 AA. AC Q9GZU5; D3DWC0; Q2M1S4; Q5H983; Q9H4J0; DT 19-SEP-2002, integrated into UniProtKB/Swiss-Prot. DT 24-JAN-2024, sequence version 2. DT 27-MAR-2024, entry version 178. DE RecName: Full=Nyctalopin; DE Flags: Precursor; GN Name=NYX; Synonyms=CLRP; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANTS CSNB1A SER-26; RP ILE-96 DEL; 109-GLU--ALA-113 DEL; PRO-138; ARG-170; LYS-182; RP LEU-LEU-ARG-207 INS; 238-ALA--PRO-241 DEL; PRO-302; SER-307; PRO-342 AND RP VAL-365. RX PubMed=11062472; DOI=10.1038/81627; RA Pusch C.M., Zeitz C., Brandau O., Pesch K., Achatz H., Feil S., Scharfe C., RA Maurer J., Jacobi F.K., Pinckers A., Andreasson S., Hardcastle A., RA Wissinger B., Berger W., Meindl A.; RT "The complete form of X-linked congenital stationary night blindness is RT caused by mutations in a gene encoding a leucine-rich repeat protein."; RL Nat. Genet. 26:324-327(2000). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANTS CSNB1A RP 24-ARG--ALA-31 DEL; LEU-146; SER-VAL-PRO-GLU-ARG-LEU-LEU-155 INS; PRO-179; RP LEU-LEU-ARG-207 INS; CYS-LEU-ARG-209 INS; GLN-208; SER-211; PRO-227; RP LYS-259; PRO-280 AND SER-293. RX PubMed=11062471; DOI=10.1038/81619; RA Bech-Hansen N.T., Naylor M.J., Maybaum T.A., Sparkes R.L., Koop B., RA Birch D.G., Bergen A.A.B., Prinsen C.F.M., Polomeno R.C., Gal A., RA Drack A.V., Musarella M.A., Jacobson S.G., Young R.S.L., Weleber R.G.; RT "Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause RT X-linked complete congenital stationary night blindness."; RL Nat. Genet. 26:319-323(2000). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., RA Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- INTERACTION: CC Q9GZU5; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-12744849, EBI-1055254; CC Q9GZU5; P38159: RBMX; NbExp=3; IntAct=EBI-12744849, EBI-743526; CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular CC matrix {ECO:0000250}. CC -!- TISSUE SPECIFICITY: Expressed in kidney and retina. Also at low levels CC in brain, testis and muscle. Within the retina, expressed in the inner CC segment of photoreceptors, outer and inner nuclear layers and the CC ganglion cell layer. {ECO:0000269|PubMed:11062471, CC ECO:0000269|PubMed:11062472}. CC -!- DISEASE: Night blindness, congenital stationary, 1A (CSNB1A) CC [MIM:310500]: A non-progressive retinal disorder characterized by CC impaired night vision. Congenital stationary night blindness type 1A is CC characterized by impaired scotopic vision, myopia, hyperopia, nystagmus CC and reduced visual acuity. {ECO:0000269|PubMed:11062471, CC ECO:0000269|PubMed:11062472}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the small leucine-rich proteoglycan (SLRP) CC family. SLRP class IV subfamily. {ECO:0000305}. CC -!- WEB RESOURCE: Name=Mutations of the NYX gene; Note=Retina CC International's Scientific Newsletter; CC URL="https://www.retina-international.org/files/sci-news/nyxmut.htm"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AJ278865; CAC19014.1; -; mRNA. DR EMBL; AF254868; AAG42685.1; -; mRNA. DR EMBL; Z93015; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471141; EAW59399.1; -; Genomic_DNA. DR EMBL; CH471141; EAW59401.1; -; Genomic_DNA. DR EMBL; BC112242; AAI12243.1; -; mRNA. DR RefSeq; NP_072089.1; NM_022567.2. DR RefSeq; XP_016885198.1; XM_017029709.1. DR AlphaFoldDB; Q9GZU5; -. DR SMR; Q9GZU5; -. DR BioGRID; 121934; 53. DR IntAct; Q9GZU5; 10. DR STRING; 9606.ENSP00000340328; -. DR GlyCosmos; Q9GZU5; 6 sites, No reported glycans. DR GlyGen; Q9GZU5; 6 sites. DR iPTMnet; Q9GZU5; -. DR PhosphoSitePlus; Q9GZU5; -. DR BioMuta; NYX; -. DR DMDM; 23396778; -. DR MassIVE; Q9GZU5; -. DR PaxDb; 9606-ENSP00000340328; -. DR PeptideAtlas; Q9GZU5; -. DR ProteomicsDB; 80149; -. DR Antibodypedia; 55948; 119 antibodies from 16 providers. DR DNASU; 60506; -. DR Ensembl; ENST00000342595.3; ENSP00000340328.3; ENSG00000188937.7. DR Ensembl; ENST00000378220.3; ENSP00000367465.2; ENSG00000188937.7. DR GeneID; 60506; -. DR KEGG; hsa:60506; -. DR MANE-Select; ENST00000378220.3; ENSP00000367465.2; NM_001378477.3; NP_001365406.2. DR UCSC; uc004dfh.3; human. DR AGR; HGNC:8082; -. DR CTD; 60506; -. DR DisGeNET; 60506; -. DR GeneCards; NYX; -. DR GeneReviews; NYX; -. DR HGNC; HGNC:8082; NYX. DR HPA; ENSG00000188937; Not detected. DR MalaCards; NYX; -. DR MIM; 300278; gene. DR MIM; 310500; phenotype. DR neXtProt; NX_Q9GZU5; -. DR OpenTargets; ENSG00000188937; -. DR Orphanet; 215; Congenital stationary night blindness. DR PharmGKB; PA31871; -. DR VEuPathDB; HostDB:ENSG00000188937; -. DR eggNOG; KOG4237; Eukaryota. DR GeneTree; ENSGT00940000160782; -. DR HOGENOM; CLU_000288_18_6_1; -. DR InParanoid; Q9GZU5; -. DR OMA; AFQDCQK; -. DR OrthoDB; 4257264at2759; -. DR PhylomeDB; Q9GZU5; -. DR TreeFam; TF337463; -. DR PathwayCommons; Q9GZU5; -. DR SignaLink; Q9GZU5; -. DR BioGRID-ORCS; 60506; 10 hits in 765 CRISPR screens. DR GeneWiki; Nyctalopin; -. DR GenomeRNAi; 60506; -. DR Pharos; Q9GZU5; Tbio. DR PRO; PR:Q9GZU5; -. DR Proteomes; UP000005640; Chromosome X. DR RNAct; Q9GZU5; Protein. DR Bgee; ENSG00000188937; Expressed in primordial germ cell in gonad and 15 other cell types or tissues. DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central. DR GO; GO:0005615; C:extracellular space; IBA:GO_Central. DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW. DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW. DR Gene3D; 3.80.10.10; Ribonuclease Inhibitor; 2. DR InterPro; IPR000483; Cys-rich_flank_reg_C. DR InterPro; IPR001611; Leu-rich_rpt. DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp. DR InterPro; IPR032675; LRR_dom_sf. DR PANTHER; PTHR24373:SF264; NYCTALOPIN; 1. DR PANTHER; PTHR24373; SLIT RELATED LEUCINE-RICH REPEAT NEURONAL PROTEIN; 1. DR Pfam; PF13855; LRR_8; 2. DR SMART; SM00369; LRR_TYP; 9. DR SMART; SM00082; LRRCT; 1. DR SUPFAM; SSF52058; L domain-like; 1. DR Genevisible; Q9GZU5; HS. PE 1: Evidence at protein level; KW Congenital stationary night blindness; Disease variant; KW Extracellular matrix; Glycoprotein; Leucine-rich repeat; Proteoglycan; KW Reference proteome; Repeat; Secreted; Sensory transduction; Signal; Vision. FT SIGNAL 1..18 FT /evidence="ECO:0000255" FT CHAIN 19..476 FT /note="Nyctalopin" FT /id="PRO_0000032776" FT REPEAT 60..84 FT /note="LRR 1" FT /evidence="ECO:0000255" FT REPEAT 85..108 FT /note="LRR 2" FT /evidence="ECO:0000255" FT REPEAT 110..133 FT /note="LRR 3" FT /evidence="ECO:0000255" FT REPEAT 134..157 FT /note="LRR 4" FT /evidence="ECO:0000255" FT REPEAT 159..181 FT /note="LRR 5" FT /evidence="ECO:0000255" FT REPEAT 182..204 FT /note="LRR 6" FT /evidence="ECO:0000255" FT REPEAT 205..228 FT /note="LRR 7" FT /evidence="ECO:0000255" FT REPEAT 229..252 FT /note="LRR 8" FT /evidence="ECO:0000255" FT REPEAT 254..276 FT /note="LRR 9" FT /evidence="ECO:0000255" FT REPEAT 277..300 FT /note="LRR 10" FT /evidence="ECO:0000255" FT REPEAT 302..324 FT /note="LRR 11" FT /evidence="ECO:0000255" FT DOMAIN 336..387 FT /note="LRRCT" FT /evidence="ECO:0000255" FT CARBOHYD 92 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 178 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 295 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 388 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 427 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 434 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VARIANT 24..31 FT /note="Missing (in CSNB1A)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_014084" FT VARIANT 26 FT /note="C -> S (in CSNB1A; dbSNP:rs62637020)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_013867" FT VARIANT 96 FT /note="Missing (in CSNB1A)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_014085" FT VARIANT 109..113 FT /note="Missing (in CSNB1A)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_014086" FT VARIANT 138 FT /note="A -> P (in CSNB1A; dbSNP:rs62637023)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_013868" FT VARIANT 146 FT /note="P -> L (in CSNB1A; dbSNP:rs62637024)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_013869" FT VARIANT 150 FT /note="L -> LSVPERLL (in CSNB1A)" FT /id="VAR_014087" FT VARIANT 170 FT /note="P -> R (in CSNB1A; dbSNP:rs62637025)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_013870" FT VARIANT 179 FT /note="L -> P (in CSNB1A; dbSNP:rs62637026)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_013871" FT VARIANT 182 FT /note="A -> K (in CSNB1A; requires 2 nucleotide FT substitutions; dbSNP:rs62637027)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_013872" FT VARIANT 202 FT /note="R -> RLLR (in CSNB1A)" FT /id="VAR_014088" FT VARIANT 204 FT /note="R -> RCLR (in CSNB1A)" FT /id="VAR_014089" FT VARIANT 208 FT /note="L -> Q (in CSNB1A; dbSNP:rs62637028)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_013873" FT VARIANT 211 FT /note="N -> S (in CSNB1A)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_013874" FT VARIANT 227 FT /note="L -> P (in CSNB1A; dbSNP:rs62637030)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_013875" FT VARIANT 238..241 FT /note="Missing (in CSNB1A)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_014090" FT VARIANT 259 FT /note="N -> K (in CSNB1A; dbSNP:rs62637032)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_013876" FT VARIANT 280 FT /note="L -> P (in CSNB1A; dbSNP:rs62637033)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_013877" FT VARIANT 293 FT /note="F -> S (in CSNB1A; dbSNP:rs62637034)" FT /evidence="ECO:0000269|PubMed:11062471" FT /id="VAR_013878" FT VARIANT 302 FT /note="L -> P (in CSNB1A)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_013879" FT VARIANT 307 FT /note="N -> S (in CSNB1A; dbSNP:rs62637035)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_013880" FT VARIANT 342 FT /note="L -> P (in CSNB1A; dbSNP:rs62637036)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_013881" FT VARIANT 365 FT /note="G -> V (in CSNB1A; dbSNP:rs62637038)" FT /evidence="ECO:0000269|PubMed:11062472" FT /id="VAR_013882" FT VARIANT 401 FT /note="A -> G (in dbSNP:rs34169326)" FT /id="VAR_052020" SQ SEQUENCE 476 AA; 51470 MW; 4B9D85132AC63D37 CRC64; MLVLLLHAVV LGLPSAWAVG ACARACPAAC ACSTVERGCS VRCDRAGLLR VPAELPCEAV SIDLDRNGLR FLGERAFGTL PSLRRLSLRH NNLSFITPGA FKGLPRLAEL RLAHNGDLRY LHARTFAALS RLRRLDLAAC RLFSVPERLL AELPALRELA AFDNLFRRVP GALRGLANLT HAHLERGRIE AVASSSLQGL RRLRSLSLQA NRVRAVHAGA FGDCGVLEHL LLNDNLLAEL PADAFRGLRR LRTLNLGGNA LDRVARAWFA DLAELELLYL DRNSIAFVEE GAFQNLSGLL ALHLNGNRLT VLAWVAFQPG FFLGRLFLFR NPWCCDCRLE WLRDWMEGSG RVTDVPCASP GSVAGLDLSQ VTFGRSSDGL CVDPEELNLT TSSPGPSPEP AATTVSRFSS LLSKLLAPRV PVEEAANTTG GLANASLSDS LSSRGVGGAG RQPWFLLASC LLPSVAQHVV FGLQMD //