NYX_HUMAN
ID NYX_HUMAN Reviewed; 481 AA.
AC Q9GZU5; D3DWC0; Q2M1S4; Q5H983; Q9H4J0;
DT 19-SEP-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 169.
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-31;
RP ILE-101 DEL; 114-GLU--ALA-118 DEL; PRO-143; ARG-175; LYS-187;
RP 207-LEU-LEU-ARG INS; 243-ALA--PRO-246 DEL; PRO-307; SER-312; PRO-347 AND
RP VAL-370.
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 29-ARG--ALA-36 DEL; LEU-151; 155-SER-VAL-PRO-GLU-ARG-LEU-LEU INS; PRO-184;
RP 207-LEU-LEU-ARG INS; 209-CYS-LEU-ARG INS; GLN-213; SER-216; PRO-232;
RP LYS-264; PRO-285 AND SER-298.
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";
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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 GlyGen; Q9GZU5; 6 sites.
DR iPTMnet; Q9GZU5; -.
DR PhosphoSitePlus; Q9GZU5; -.
DR BioMuta; NYX; -.
DR DMDM; 23396778; -.
DR MassIVE; Q9GZU5; -.
DR PaxDb; Q9GZU5; -.
DR PeptideAtlas; Q9GZU5; -.
DR PRIDE; Q9GZU5; -.
DR ProteomicsDB; 80149; -.
DR Antibodypedia; 55948; 99 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 UCSC; uc004dfh.3; human.
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 Orphanet; 215; Congenital stationary night blindness.
DR PharmGKB; PA31871; -.
DR VEuPathDB; HostDB:ENSG00000188937; -.
DR eggNOG; KOG4237; Eukaryota.
DR HOGENOM; CLU_000288_18_6_1; -.
DR InParanoid; Q9GZU5; -.
DR OMA; RSPEGYC; -.
DR OrthoDB; 826997at2759; -.
DR PhylomeDB; Q9GZU5; -.
DR TreeFam; TF337463; -.
DR PathwayCommons; Q9GZU5; -.
DR SignaLink; Q9GZU5; -.
DR BioGRID-ORCS; 60506; 9 hits in 691 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 pancreatic ductal cell and 17 other tissues.
DR Genevisible; Q9GZU5; HS.
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; -; 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 InterPro; IPR000372; LRRNT.
DR Pfam; PF13855; LRR_8; 2.
DR Pfam; PF01462; LRRNT; 1.
DR SMART; SM00369; LRR_TYP; 9.
DR SMART; SM00082; LRRCT; 1.
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..23
FT /evidence="ECO:0000255"
FT CHAIN 24..481
FT /note="Nyctalopin"
FT /id="PRO_0000032776"
FT DOMAIN 24..62
FT /note="LRRNT"
FT REPEAT 63..84
FT /note="LRR 1"
FT REPEAT 87..108
FT /note="LRR 2"
FT REPEAT 111..130
FT /note="LRR 3"
FT REPEAT 136..159
FT /note="LRR 4"
FT REPEAT 160..182
FT /note="LRR 5"
FT REPEAT 183..204
FT /note="LRR 6"
FT REPEAT 207..228
FT /note="LRR 7"
FT REPEAT 231..252
FT /note="LRR 8"
FT REPEAT 255..276
FT /note="LRR 9"
FT REPEAT 279..300
FT /note="LRR 10"
FT REPEAT 303..324
FT /note="LRR 11"
FT DOMAIN 336..388
FT /note="LRRCT"
FT CARBOHYD 97
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 183
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 300
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 393
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 432
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 439
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 29..36
FT /note="Missing (in CSNB1A)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_014084"
FT VARIANT 31
FT /note="C -> S (in CSNB1A; dbSNP:rs62637020)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_013867"
FT VARIANT 101
FT /note="Missing (in CSNB1A)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_014085"
FT VARIANT 114..118
FT /note="Missing (in CSNB1A)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_014086"
FT VARIANT 143
FT /note="A -> P (in CSNB1A; dbSNP:rs62637023)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_013868"
FT VARIANT 151
FT /note="P -> L (in CSNB1A; dbSNP:rs62637024)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_013869"
FT VARIANT 155
FT /note="L -> LSVPERLL (in CSNB1A)"
FT /id="VAR_014087"
FT VARIANT 175
FT /note="P -> R (in CSNB1A; dbSNP:rs62637025)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_013870"
FT VARIANT 184
FT /note="L -> P (in CSNB1A; dbSNP:rs62637026)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_013871"
FT VARIANT 187
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 207
FT /note="R -> RLLR (in CSNB1A)"
FT /id="VAR_014088"
FT VARIANT 209
FT /note="R -> RCLR (in CSNB1A)"
FT /id="VAR_014089"
FT VARIANT 213
FT /note="L -> Q (in CSNB1A; dbSNP:rs62637028)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_013873"
FT VARIANT 216
FT /note="N -> S (in CSNB1A)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_013874"
FT VARIANT 232
FT /note="L -> P (in CSNB1A; dbSNP:rs62637030)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_013875"
FT VARIANT 243..246
FT /note="Missing (in CSNB1A)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_014090"
FT VARIANT 264
FT /note="N -> K (in CSNB1A; dbSNP:rs62637032)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_013876"
FT VARIANT 285
FT /note="L -> P (in CSNB1A; dbSNP:rs62637033)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_013877"
FT VARIANT 298
FT /note="F -> S (in CSNB1A; dbSNP:rs62637034)"
FT /evidence="ECO:0000269|PubMed:11062471"
FT /id="VAR_013878"
FT VARIANT 307
FT /note="L -> P (in CSNB1A)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_013879"
FT VARIANT 312
FT /note="N -> S (in CSNB1A; dbSNP:rs62637035)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_013880"
FT VARIANT 347
FT /note="L -> P (in CSNB1A; dbSNP:rs62637036)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_013881"
FT VARIANT 370
FT /note="G -> V (in CSNB1A; dbSNP:rs62637038)"
FT /evidence="ECO:0000269|PubMed:11062472"
FT /id="VAR_013882"
FT VARIANT 406
FT /note="A -> G (in dbSNP:rs34169326)"
FT /id="VAR_052020"
SQ SEQUENCE 481 AA; 52000 MW; 77855134DC564515 CRC64;
MKGRGMLVLL LHAVVLGLPS AWAVGACARA CPAACACSTV ERGCSVRCDR AGLLRVPAEL
PCEAVSIDLD RNGLRFLGER AFGTLPSLRR LSLRHNNLSF ITPGAFKGLP RLAELRLAHN
GDLRYLHART FAALSRLRRL DLAACRLFSV PERLLAELPA LRELAAFDNL FRRVPGALRG
LANLTHAHLE RGRIEAVASS SLQGLRRLRS LSLQANRVRA VHAGAFGDCG VLEHLLLNDN
LLAELPADAF RGLRRLRTLN LGGNALDRVA RAWFADLAEL ELLYLDRNSI AFVEEGAFQN
LSGLLALHLN GNRLTVLAWV AFQPGFFLGR LFLFRNPWCC DCRLEWLRDW MEGSGRVTDV
PCASPGSVAG LDLSQVTFGR SSDGLCVDPE ELNLTTSSPG PSPEPAATTV SRFSSLLSKL
LAPRVPVEEA ANTTGGLANA SLSDSLSSRG VGGAGRQPWF LLASCLLPSV AQHVVFGLQM
D
