Q9GZU5 (NYX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nyctalopin

Gene names

Name:	NYX
Synonyms:	CLRP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	481 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Secreted › extracellular space › extracellular matrix By similarity.
Tissue specificity	Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer. Ref.1 Ref.2
Involvement in disease	Congenital stationary night blindness 1A (CSNB1A) [MIM:310500]: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2
Sequence similarities	Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. Contains 11 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Disease	Congenital stationary night blindness Disease mutation
Domain	Leucine-rich repeat Repeat Signal
PTM	Glycoprotein Proteoglycan
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	intracellular Inferred from direct assay Ref.2. Source: UniProtKB proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Chain	24 – 481	458	Nyctalopin		PRO_0000032776
Regions
	Domain	24 – 62	39	LRRNT
	Repeat	63 – 84	22	LRR 1
	Repeat	87 – 108	22	LRR 2
	Repeat	111 – 130	20	LRR 3
	Repeat	136 – 159	24	LRR 4
	Repeat	160 – 182	23	LRR 5
	Repeat	183 – 204	22	LRR 6
	Repeat	207 – 228	22	LRR 7
	Repeat	231 – 252	22	LRR 8
	Repeat	255 – 276	22	LRR 9
	Repeat	279 – 300	22	LRR 10
	Repeat	303 – 324	22	LRR 11
	Domain	336 – 388	53	LRRCT
	Compositional bias	27 – 48	22	Cys-rich
Amino acid modifications
	Glycosylation	97	1	N-linked (GlcNAc...) Potential
	Glycosylation	183	1	N-linked (GlcNAc...) Potential
	Glycosylation	300	1	N-linked (GlcNAc...) Potential
	Glycosylation	393	1	N-linked (GlcNAc...) Potential
	Glycosylation	432	1	N-linked (GlcNAc...) Potential
	Glycosylation	439	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	29 – 36	8	Missing in CSNB1A.		VAR_014084
	Natural variant	31	1	C → S in CSNB1A. Ref.1		VAR_013867
	Natural variant	101	1	Missing in CSNB1A. Ref.1		VAR_014085
	Natural variant	114 – 118	5	Missing in CSNB1A.		VAR_014086
	Natural variant	143	1	A → P in CSNB1A. Ref.1		VAR_013868
	Natural variant	151	1	P → L in CSNB1A. Ref.2		VAR_013869
	Natural variant	155	1	L → LSVPERLL in CSNB1A.		VAR_014087
	Natural variant	175	1	P → R in CSNB1A. Ref.1		VAR_013870
	Natural variant	184	1	L → P in CSNB1A. Ref.2		VAR_013871
	Natural variant	187	1	A → K in CSNB1A; requires 2 nucleotide substitutions. Ref.1		VAR_013872
	Natural variant	207	1	R → RLLR in CSNB1A.		VAR_014088
	Natural variant	209	1	R → RCLR in CSNB1A.		VAR_014089
	Natural variant	213	1	L → Q in CSNB1A. Ref.2		VAR_013873
	Natural variant	216	1	N → S in CSNB1A. Ref.2		VAR_013874
	Natural variant	232	1	L → P in CSNB1A. Ref.2		VAR_013875
	Natural variant	243 – 246	4	Missing in CSNB1A.		VAR_014090
	Natural variant	264	1	N → K in CSNB1A. Ref.2		VAR_013876
	Natural variant	285	1	L → P in CSNB1A. Ref.2		VAR_013877
	Natural variant	298	1	F → S in CSNB1A. Ref.2		VAR_013878
	Natural variant	307	1	L → P in CSNB1A. Ref.1		VAR_013879
	Natural variant	312	1	N → S in CSNB1A. Ref.1		VAR_013880
	Natural variant	347	1	L → P in CSNB1A. Ref.1		VAR_013881
	Natural variant	370	1	G → V in CSNB1A. Ref.1		VAR_013882
	Natural variant	406	1	A → G. Corresponds to variant rs34169326 [ dbSNP | Ensembl ].		VAR_052020

Sequences

	Sequence		Length	Mass (Da)
	Q9GZU5 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 77855134DC564515	FASTA	481	52,000
	10 20 30 40 50 60 MKGRGMLVLL LHAVVLGLPS AWAVGACARA CPAACACSTV ERGCSVRCDR AGLLRVPAEL 70 80 90 100 110 120 PCEAVSIDLD RNGLRFLGER AFGTLPSLRR LSLRHNNLSF ITPGAFKGLP RLAELRLAHN 130 140 150 160 170 180 GDLRYLHART FAALSRLRRL DLAACRLFSV PERLLAELPA LRELAAFDNL FRRVPGALRG 190 200 210 220 230 240 LANLTHAHLE RGRIEAVASS SLQGLRRLRS LSLQANRVRA VHAGAFGDCG VLEHLLLNDN 250 260 270 280 290 300 LLAELPADAF RGLRRLRTLN LGGNALDRVA RAWFADLAEL ELLYLDRNSI AFVEEGAFQN 310 320 330 340 350 360 LSGLLALHLN GNRLTVLAWV AFQPGFFLGR LFLFRNPWCC DCRLEWLRDW MEGSGRVTDV 370 380 390 400 410 420 PCASPGSVAG LDLSQVTFGR SSDGLCVDPE ELNLTTSSPG PSPEPAATTV SRFSSLLSKL 430 440 450 460 470 480 LAPRVPVEEA ANTTGGLANA SLSDSLSSRG VGGAGRQPWF LLASCLLPSV AQHVVFGLQM D

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein." 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., Meindl A. Nat. Genet. 26:324-327(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS CSNB1A SER-31; ILE-101 DEL; 114-GLU--ALA-118 DEL; PRO-143; ARG-175; LYS-187; 207-LEU-LEU-ARG INS; 243-ALA--PRO-246 DEL; PRO-307; SER-312; PRO-347 AND VAL-370.
[2]	"Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness." Bech-Hansen N.T., Naylor M.J., Maybaum T.A., Sparkes R.L., Koop B., Birch D.G., Bergen A.A.B., Prinsen C.F.M., Polomeno R.C., Gal A., Drack A.V., Musarella M.A., Jacobson S.G., Young R.S.L., Weleber R.G. Nat. Genet. 26:319-323(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS CSNB1A 29-ARG--ALA-36 DEL; LEU-151; 155-SER-VAL-PRO-GLU-ARG-LEU-LEU INS; PRO-184; 207-LEU-LEU-ARG INS; 209-CYS-LEU-ARG INS; GLN-213; SER-216; PRO-232; LYS-264; PRO-285 AND SER-298.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
+	Additional computationally mapped references.

Web resources

Mutations of the NYX gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ278865 mRNA. Translation: CAC19014.1. AF254868 mRNA. Translation: AAG42685.1. Z93015 Genomic DNA. Translation: CAI42364.1. CH471141 Genomic DNA. Translation: EAW59399.1. CH471141 Genomic DNA. Translation: EAW59401.1. BC112242 mRNA. Translation: AAI12243.1.
IPI	IPI00072576.
RefSeq	NP_072089.1. NM_022567.2.
UniGene	Hs.302019.
3D structure databases
ProteinModelPortal	Q9GZU5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000340328.
PTM databases
PhosphoSite	Q9GZU5.
Polymorphism databases
DMDM	23396778.
Proteomic databases
PaxDb	Q9GZU5.
PRIDE	Q9GZU5.
Protocols and materials databases
DNASU	60506.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342595; ENSP00000340328; ENSG00000188937. ENST00000378220; ENSP00000367465; ENSG00000188937.
GeneID	60506.
KEGG	hsa:60506.
UCSC	uc004dfh.2. human.
Organism-specific databases
CTD	60506.
GeneCards	GC0XP041306.
HGNC	HGNC:8082. NYX.
MIM	300278. gene. 310500. phenotype.
neXtProt	NX_Q9GZU5.
Orphanet	215. Congenital stationary night blindness.
PharmGKB	PA31871.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG328516.
HOGENOM	HOG000230477.
HOVERGEN	HBG031762.
InParanoid	Q9GZU5.
KO	K08129.
OMA	NISFITP.
OrthoDB	EOG43JC4W.
PhylomeDB	Q9GZU5.
Gene expression databases
Bgee	Q9GZU5.
CleanEx	HS_NYX.
Genevestigator	Q9GZU5.
GermOnline	ENSG00000188937. Homo sapiens.
Family and domain databases
InterPro	IPR000483. Cys-rich_flank_reg_C. IPR003591. Leu-rich_rpt_typical-subtyp. IPR000372. LRR-contain_N. [Graphical view]
Pfam	PF01462. LRRNT. 1 hit. [Graphical view]
SMART	SM00369. LRR_TYP. 3 hits. SM00082. LRRCT. 1 hit. SM00013. LRRNT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	60506.
NextBio	65415.
SOURCE	Search...

Entry information

Entry name

NYX_HUMAN

Accession

Primary (citable) accession number: Q9GZU5
Secondary accession number(s): D3DWC0 , Q2M1S4, Q5H983, Q9H4J0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 103 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.