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Protein

Nyctalopin

Gene

NYX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:G66-33470-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Nyctalopin
Gene namesi
Name:NYX
Synonyms:CLRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:8082. NYX.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: GO_Central
  • intracellular Source: UniProtKB
  • proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, 1A (CSNB1A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:310500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01408429 – 36Missing in CSNB1A. 1 Publication8
Natural variantiVAR_01386731C → S in CSNB1A. 1 PublicationCorresponds to variant rs62637020dbSNPEnsembl.1
Natural variantiVAR_014085101Missing in CSNB1A. 1 Publication1
Natural variantiVAR_014086114 – 118Missing in CSNB1A. 1 Publication5
Natural variantiVAR_013868143A → P in CSNB1A. 1 PublicationCorresponds to variant rs62637023dbSNPEnsembl.1
Natural variantiVAR_013869151P → L in CSNB1A. 1 PublicationCorresponds to variant rs62637024dbSNPEnsembl.1
Natural variantiVAR_014087155L → LSVPERLL in CSNB1A. 1
Natural variantiVAR_013870175P → R in CSNB1A. 1 PublicationCorresponds to variant rs62637025dbSNPEnsembl.1
Natural variantiVAR_013871184L → P in CSNB1A. 1 PublicationCorresponds to variant rs62637026dbSNPEnsembl.1
Natural variantiVAR_013872187A → K in CSNB1A; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs62637027dbSNPEnsembl.1
Natural variantiVAR_014088207R → RLLR in CSNB1A. 1
Natural variantiVAR_014089209R → RCLR in CSNB1A. 1
Natural variantiVAR_013873213L → Q in CSNB1A. 1 PublicationCorresponds to variant rs62637028dbSNPEnsembl.1
Natural variantiVAR_013874216N → S in CSNB1A. 1 Publication1
Natural variantiVAR_013875232L → P in CSNB1A. 1 PublicationCorresponds to variant rs62637030dbSNPEnsembl.1
Natural variantiVAR_014090243 – 246Missing in CSNB1A. 1 Publication4
Natural variantiVAR_013876264N → K in CSNB1A. 1 PublicationCorresponds to variant rs62637032dbSNPEnsembl.1
Natural variantiVAR_013877285L → P in CSNB1A. 1 PublicationCorresponds to variant rs62637033dbSNPEnsembl.1
Natural variantiVAR_013878298F → S in CSNB1A. 1 PublicationCorresponds to variant rs62637034dbSNPEnsembl.1
Natural variantiVAR_013879307L → P in CSNB1A. 1 Publication1
Natural variantiVAR_013880312N → S in CSNB1A. 1 PublicationCorresponds to variant rs62637035dbSNPEnsembl.1
Natural variantiVAR_013881347L → P in CSNB1A. 1 PublicationCorresponds to variant rs62637036dbSNPEnsembl.1
Natural variantiVAR_013882370G → V in CSNB1A. 1 PublicationCorresponds to variant rs62637038dbSNPEnsembl.1

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation

Organism-specific databases

DisGeNETi60506.
MalaCardsiNYX.
MIMi310500. phenotype.
OpenTargetsiENSG00000188937.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA31871.

Polymorphism and mutation databases

BioMutaiNYX.
DMDMi23396778.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000003277624 – 481NyctalopinAdd BLAST458

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi97N-linked (GlcNAc...)Sequence analysis1
Glycosylationi183N-linked (GlcNAc...)Sequence analysis1
Glycosylationi300N-linked (GlcNAc...)Sequence analysis1
Glycosylationi393N-linked (GlcNAc...)Sequence analysis1
Glycosylationi432N-linked (GlcNAc...)Sequence analysis1
Glycosylationi439N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Proteoglycan

Proteomic databases

EPDiQ9GZU5.
PaxDbiQ9GZU5.
PeptideAtlasiQ9GZU5.
PRIDEiQ9GZU5.

PTM databases

iPTMnetiQ9GZU5.
PhosphoSitePlusiQ9GZU5.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000188937.
CleanExiHS_NYX.
GenevisibleiQ9GZU5. HS.

Organism-specific databases

HPAiCAB012219.

Interactioni

Protein-protein interaction databases

BioGridi121934. 13 interactors.
STRINGi9606.ENSP00000340328.

Structurei

3D structure databases

ProteinModelPortaliQ9GZU5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 62LRRNTAdd BLAST39
Repeati63 – 84LRR 1Add BLAST22
Repeati87 – 108LRR 2Add BLAST22
Repeati111 – 130LRR 3Add BLAST20
Repeati136 – 159LRR 4Add BLAST24
Repeati160 – 182LRR 5Add BLAST23
Repeati183 – 204LRR 6Add BLAST22
Repeati207 – 228LRR 7Add BLAST22
Repeati231 – 252LRR 8Add BLAST22
Repeati255 – 276LRR 9Add BLAST22
Repeati279 – 300LRR 10Add BLAST22
Repeati303 – 324LRR 11Add BLAST22
Domaini336 – 388LRRCTAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi27 – 48Cys-richAdd BLAST22

Sequence similaritiesi

Contains 11 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated
Contains 1 LRRNT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiKOG4237. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118777.
HOGENOMiHOG000230477.
HOVERGENiHBG031762.
InParanoidiQ9GZU5.
KOiK08129.
OMAiRSPEGYC.
OrthoDBiEOG091G05RT.
PhylomeDBiQ9GZU5.
TreeFamiTF337463.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 9 hits.
SM00082. LRRCT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9GZU5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKGRGMLVLL LHAVVLGLPS AWAVGACARA CPAACACSTV ERGCSVRCDR
60 70 80 90 100
AGLLRVPAEL PCEAVSIDLD RNGLRFLGER AFGTLPSLRR LSLRHNNLSF
110 120 130 140 150
ITPGAFKGLP RLAELRLAHN GDLRYLHART FAALSRLRRL DLAACRLFSV
160 170 180 190 200
PERLLAELPA LRELAAFDNL FRRVPGALRG LANLTHAHLE RGRIEAVASS
210 220 230 240 250
SLQGLRRLRS LSLQANRVRA VHAGAFGDCG VLEHLLLNDN LLAELPADAF
260 270 280 290 300
RGLRRLRTLN LGGNALDRVA RAWFADLAEL ELLYLDRNSI AFVEEGAFQN
310 320 330 340 350
LSGLLALHLN GNRLTVLAWV AFQPGFFLGR LFLFRNPWCC DCRLEWLRDW
360 370 380 390 400
MEGSGRVTDV PCASPGSVAG LDLSQVTFGR SSDGLCVDPE ELNLTTSSPG
410 420 430 440 450
PSPEPAATTV SRFSSLLSKL LAPRVPVEEA ANTTGGLANA SLSDSLSSRG
460 470 480
VGGAGRQPWF LLASCLLPSV AQHVVFGLQM D
Length:481
Mass (Da):52,000
Last modified:March 1, 2001 - v1
Checksum:i77855134DC564515
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01408429 – 36Missing in CSNB1A. 1 Publication8
Natural variantiVAR_01386731C → S in CSNB1A. 1 PublicationCorresponds to variant rs62637020dbSNPEnsembl.1
Natural variantiVAR_014085101Missing in CSNB1A. 1 Publication1
Natural variantiVAR_014086114 – 118Missing in CSNB1A. 1 Publication5
Natural variantiVAR_013868143A → P in CSNB1A. 1 PublicationCorresponds to variant rs62637023dbSNPEnsembl.1
Natural variantiVAR_013869151P → L in CSNB1A. 1 PublicationCorresponds to variant rs62637024dbSNPEnsembl.1
Natural variantiVAR_014087155L → LSVPERLL in CSNB1A. 1
Natural variantiVAR_013870175P → R in CSNB1A. 1 PublicationCorresponds to variant rs62637025dbSNPEnsembl.1
Natural variantiVAR_013871184L → P in CSNB1A. 1 PublicationCorresponds to variant rs62637026dbSNPEnsembl.1
Natural variantiVAR_013872187A → K in CSNB1A; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs62637027dbSNPEnsembl.1
Natural variantiVAR_014088207R → RLLR in CSNB1A. 1
Natural variantiVAR_014089209R → RCLR in CSNB1A. 1
Natural variantiVAR_013873213L → Q in CSNB1A. 1 PublicationCorresponds to variant rs62637028dbSNPEnsembl.1
Natural variantiVAR_013874216N → S in CSNB1A. 1 Publication1
Natural variantiVAR_013875232L → P in CSNB1A. 1 PublicationCorresponds to variant rs62637030dbSNPEnsembl.1
Natural variantiVAR_014090243 – 246Missing in CSNB1A. 1 Publication4
Natural variantiVAR_013876264N → K in CSNB1A. 1 PublicationCorresponds to variant rs62637032dbSNPEnsembl.1
Natural variantiVAR_013877285L → P in CSNB1A. 1 PublicationCorresponds to variant rs62637033dbSNPEnsembl.1
Natural variantiVAR_013878298F → S in CSNB1A. 1 PublicationCorresponds to variant rs62637034dbSNPEnsembl.1
Natural variantiVAR_013879307L → P in CSNB1A. 1 Publication1
Natural variantiVAR_013880312N → S in CSNB1A. 1 PublicationCorresponds to variant rs62637035dbSNPEnsembl.1
Natural variantiVAR_013881347L → P in CSNB1A. 1 PublicationCorresponds to variant rs62637036dbSNPEnsembl.1
Natural variantiVAR_013882370G → V in CSNB1A. 1 PublicationCorresponds to variant rs62637038dbSNPEnsembl.1
Natural variantiVAR_052020406A → G.Corresponds to variant rs34169326dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14256.1.
RefSeqiNP_072089.1. NM_022567.2.
XP_016885198.1. XM_017029709.1.
UniGeneiHs.302019.

Genome annotation databases

EnsembliENST00000342595; ENSP00000340328; ENSG00000188937.
ENST00000378220; ENSP00000367465; ENSG00000188937.
GeneIDi60506.
KEGGihsa:60506.
UCSCiuc004dfh.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the NYX gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14256.1.
RefSeqiNP_072089.1. NM_022567.2.
XP_016885198.1. XM_017029709.1.
UniGeneiHs.302019.

3D structure databases

ProteinModelPortaliQ9GZU5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121934. 13 interactors.
STRINGi9606.ENSP00000340328.

PTM databases

iPTMnetiQ9GZU5.
PhosphoSitePlusiQ9GZU5.

Polymorphism and mutation databases

BioMutaiNYX.
DMDMi23396778.

Proteomic databases

EPDiQ9GZU5.
PaxDbiQ9GZU5.
PeptideAtlasiQ9GZU5.
PRIDEiQ9GZU5.

Protocols and materials databases

DNASUi60506.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342595; ENSP00000340328; ENSG00000188937.
ENST00000378220; ENSP00000367465; ENSG00000188937.
GeneIDi60506.
KEGGihsa:60506.
UCSCiuc004dfh.3. human.

Organism-specific databases

CTDi60506.
DisGeNETi60506.
GeneCardsiNYX.
GeneReviewsiNYX.
HGNCiHGNC:8082. NYX.
HPAiCAB012219.
MalaCardsiNYX.
MIMi300278. gene.
310500. phenotype.
neXtProtiNX_Q9GZU5.
OpenTargetsiENSG00000188937.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA31871.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4237. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118777.
HOGENOMiHOG000230477.
HOVERGENiHBG031762.
InParanoidiQ9GZU5.
KOiK08129.
OMAiRSPEGYC.
OrthoDBiEOG091G05RT.
PhylomeDBiQ9GZU5.
TreeFamiTF337463.

Enzyme and pathway databases

BioCyciZFISH:G66-33470-MONOMER.

Miscellaneous databases

GeneWikiiNyctalopin.
GenomeRNAii60506.
PROiQ9GZU5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188937.
CleanExiHS_NYX.
GenevisibleiQ9GZU5. HS.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiIPR000483. Cys-rich_flank_reg_C.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 2 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 9 hits.
SM00082. LRRCT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNYX_HUMAN
AccessioniPrimary (citable) accession number: Q9GZU5
Secondary accession number(s): D3DWC0
, Q2M1S4, Q5H983, Q9H4J0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.