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Q9GZU5 (NYX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nyctalopin
Gene names
Name:NYX
Synonyms:CLRP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length481 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Secretedextracellular spaceextracellular 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

Night blindness, congenital stationary, 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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Chain24 – 481458Nyctalopin
PRO_0000032776

Regions

Domain24 – 6239LRRNT
Repeat63 – 8422LRR 1
Repeat87 – 10822LRR 2
Repeat111 – 13020LRR 3
Repeat136 – 15924LRR 4
Repeat160 – 18223LRR 5
Repeat183 – 20422LRR 6
Repeat207 – 22822LRR 7
Repeat231 – 25222LRR 8
Repeat255 – 27622LRR 9
Repeat279 – 30022LRR 10
Repeat303 – 32422LRR 11
Domain336 – 38853LRRCT
Compositional bias27 – 4822Cys-rich

Amino acid modifications

Glycosylation971N-linked (GlcNAc...) Potential
Glycosylation1831N-linked (GlcNAc...) Potential
Glycosylation3001N-linked (GlcNAc...) Potential
Glycosylation3931N-linked (GlcNAc...) Potential
Glycosylation4321N-linked (GlcNAc...) Potential
Glycosylation4391N-linked (GlcNAc...) Potential

Natural variations

Natural variant29 – 368Missing in CSNB1A.
VAR_014084
Natural variant311C → S in CSNB1A. Ref.1
VAR_013867
Natural variant1011Missing in CSNB1A. Ref.1
VAR_014085
Natural variant114 – 1185Missing in CSNB1A.
VAR_014086
Natural variant1431A → P in CSNB1A. Ref.1
VAR_013868
Natural variant1511P → L in CSNB1A. Ref.2
VAR_013869
Natural variant1551L → LSVPERLL in CSNB1A.
VAR_014087
Natural variant1751P → R in CSNB1A. Ref.1
VAR_013870
Natural variant1841L → P in CSNB1A. Ref.2
VAR_013871
Natural variant1871A → K in CSNB1A; requires 2 nucleotide substitutions. Ref.1
VAR_013872
Natural variant2071R → RLLR in CSNB1A.
VAR_014088
Natural variant2091R → RCLR in CSNB1A.
VAR_014089
Natural variant2131L → Q in CSNB1A. Ref.2
VAR_013873
Natural variant2161N → S in CSNB1A. Ref.2
VAR_013874
Natural variant2321L → P in CSNB1A. Ref.2
VAR_013875
Natural variant243 – 2464Missing in CSNB1A.
VAR_014090
Natural variant2641N → K in CSNB1A. Ref.2
VAR_013876
Natural variant2851L → P in CSNB1A. Ref.2
VAR_013877
Natural variant2981F → S in CSNB1A. Ref.2
VAR_013878
Natural variant3071L → P in CSNB1A. Ref.1
VAR_013879
Natural variant3121N → S in CSNB1A. Ref.1
VAR_013880
Natural variant3471L → P in CSNB1A. Ref.1
VAR_013881
Natural variant3701G → V in CSNB1A. Ref.1
VAR_013882
Natural variant4061A → G.
Corresponds to variant rs34169326 [ dbSNP | Ensembl ].
VAR_052020

Sequences

Sequence LengthMass (Da)Tools
Q9GZU5 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 77855134DC564515

FASTA48152,000
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS14256.1.
RefSeqNP_072089.1. NM_022567.2.
XP_005272689.1. XM_005272632.1.
UniGeneHs.302019.

3D structure databases

ProteinModelPortalQ9GZU5.
SMRQ9GZU5. Positions 30-395.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000340328.

PTM databases

PhosphoSiteQ9GZU5.

Polymorphism databases

DMDM23396778.

Proteomic databases

PaxDbQ9GZU5.
PRIDEQ9GZU5.

Protocols and materials databases

DNASU60506.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342595; ENSP00000340328; ENSG00000188937.
ENST00000378220; ENSP00000367465; ENSG00000188937.
GeneID60506.
KEGGhsa:60506.
UCSCuc004dfh.2. human.

Organism-specific databases

CTD60506.
GeneCardsGC0XP041306.
GeneReviewsNYX.
HGNCHGNC:8082. NYX.
MIM300278. gene.
310500. phenotype.
neXtProtNX_Q9GZU5.
Orphanet215. Congenital stationary night blindness.
PharmGKBPA31871.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG328516.
HOGENOMHOG000230477.
HOVERGENHBG031762.
InParanoidQ9GZU5.
KOK08129.
OMANISFITP.
OrthoDBEOG77HDF9.
PhylomeDBQ9GZU5.
TreeFamTF337463.

Gene expression databases

BgeeQ9GZU5.
CleanExHS_NYX.
GenevestigatorQ9GZU5.

Family and domain databases

InterProIPR000483. Cys-rich_flank_reg_C.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRR-contain_N.
[Graphical view]
PfamPF13855. LRR_8. 3 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
SMARTSM00369. LRR_TYP. 3 hits.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNyctalopin.
GenomeRNAi60506.
NextBio65415.
PROQ9GZU5.
SOURCESearch...

Entry information

Entry nameNYX_HUMAN
AccessionPrimary (citable) accession number: Q9GZU5
Secondary accession number(s): D3DWC0 expand/collapse secondary AC list , Q2M1S4, Q5H983, Q9H4J0
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM