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Entry version 158 (22 Apr 2020)
Sequence version 1 (01 Mar 2001)
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Protein

Nyctalopin

Gene

NYX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Vision

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nyctalopin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NYX
Synonyms:CLRP
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8082 NYX

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300278 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9GZU5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01408429 – 36Missing in CSNB1A. 1 Publication8
Natural variantiVAR_01386731C → S in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637020EnsemblClinVar.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 dbSNP:rs62637023EnsemblClinVar.1
Natural variantiVAR_013869151P → L in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637024EnsemblClinVar.1
Natural variantiVAR_014087155L → LSVPERLL in CSNB1A. 1
Natural variantiVAR_013870175P → R in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637025EnsemblClinVar.1
Natural variantiVAR_013871184L → P in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637026EnsemblClinVar.1
Natural variantiVAR_013872187A → K in CSNB1A; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs62637027EnsemblClinVar.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 dbSNP:rs62637028EnsemblClinVar.1
Natural variantiVAR_013874216N → S in CSNB1A. 1 Publication1
Natural variantiVAR_013875232L → P in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637030EnsemblClinVar.1
Natural variantiVAR_014090243 – 246Missing in CSNB1A. 1 Publication4
Natural variantiVAR_013876264N → K in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637032EnsemblClinVar.1
Natural variantiVAR_013877285L → P in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637033EnsemblClinVar.1
Natural variantiVAR_013878298F → S in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637034EnsemblClinVar.1
Natural variantiVAR_013879307L → P in CSNB1A. 1 Publication1
Natural variantiVAR_013880312N → S in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637035EnsemblClinVar.1
Natural variantiVAR_013881347L → P in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637036EnsemblClinVar.1
Natural variantiVAR_013882370G → V in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637038EnsemblClinVar.1

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
60506

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
NYX

MalaCards human disease database

More...
MalaCardsi
NYX
MIMi310500 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000188937

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
215 Congenital stationary night blindness

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31871

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9GZU5 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NYX

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23396778

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003277624 – 481NyctalopinAdd BLAST458

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi183N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi300N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi393N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi432N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi439N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Proteoglycan

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9GZU5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9GZU5

PeptideAtlas

More...
PeptideAtlasi
Q9GZU5

PRoteomics IDEntifications database

More...
PRIDEi
Q9GZU5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80149

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9GZU5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9GZU5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000188937 Expressed in myocardium and 66 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9GZU5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000188937 Tissue enriched (retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121934, 15 interactors

Protein interaction database and analysis system

More...
IntActi
Q9GZU5, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000340328

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9GZU5 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini24 – 62LRRNTAdd BLAST39
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi27 – 48Cys-richAdd BLAST22

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4237 Eukaryota
COG4886 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160782

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000288_18_6_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9GZU5

KEGG Orthology (KO)

More...
KOi
K08129

Identification of Orthologs from Complete Genome Data

More...
OMAi
HNEYIRY

Database of Orthologous Groups

More...
OrthoDBi
826997at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9GZU5

TreeFam database of animal gene trees

More...
TreeFami
TF337463

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.80.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13855 LRR_8, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00369 LRR_TYP, 9 hits
SM00082 LRRCT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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 dbSNP:rs62637020EnsemblClinVar.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 dbSNP:rs62637023EnsemblClinVar.1
Natural variantiVAR_013869151P → L in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637024EnsemblClinVar.1
Natural variantiVAR_014087155L → LSVPERLL in CSNB1A. 1
Natural variantiVAR_013870175P → R in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637025EnsemblClinVar.1
Natural variantiVAR_013871184L → P in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637026EnsemblClinVar.1
Natural variantiVAR_013872187A → K in CSNB1A; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs62637027EnsemblClinVar.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 dbSNP:rs62637028EnsemblClinVar.1
Natural variantiVAR_013874216N → S in CSNB1A. 1 Publication1
Natural variantiVAR_013875232L → P in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637030EnsemblClinVar.1
Natural variantiVAR_014090243 – 246Missing in CSNB1A. 1 Publication4
Natural variantiVAR_013876264N → K in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637032EnsemblClinVar.1
Natural variantiVAR_013877285L → P in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637033EnsemblClinVar.1
Natural variantiVAR_013878298F → S in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637034EnsemblClinVar.1
Natural variantiVAR_013879307L → P in CSNB1A. 1 Publication1
Natural variantiVAR_013880312N → S in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637035EnsemblClinVar.1
Natural variantiVAR_013881347L → P in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637036EnsemblClinVar.1
Natural variantiVAR_013882370G → V in CSNB1A. 1 PublicationCorresponds to variant dbSNP:rs62637038EnsemblClinVar.1
Natural variantiVAR_052020406A → G. Corresponds to variant dbSNP:rs34169326EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ278865 mRNA Translation: CAC19014.1
AF254868 mRNA Translation: AAG42685.1
Z93015 Genomic DNA No translation available.
CH471141 Genomic DNA Translation: EAW59399.1
CH471141 Genomic DNA Translation: EAW59401.1
BC112242 mRNA Translation: AAI12243.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14256.1

NCBI Reference Sequences

More...
RefSeqi
NP_072089.1, NM_022567.2
XP_016885198.1, XM_017029709.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342595; ENSP00000340328; ENSG00000188937
ENST00000378220; ENSP00000367465; ENSG00000188937

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
60506

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:60506

UCSC genome browser

More...
UCSCi
uc004dfh.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 No translation available.
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

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121934, 15 interactors
IntActiQ9GZU5, 9 interactors
STRINGi9606.ENSP00000340328

PTM databases

iPTMnetiQ9GZU5
PhosphoSitePlusiQ9GZU5

Polymorphism and mutation databases

BioMutaiNYX
DMDMi23396778

Proteomic databases

MassIVEiQ9GZU5
PaxDbiQ9GZU5
PeptideAtlasiQ9GZU5
PRIDEiQ9GZU5
ProteomicsDBi80149

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
55948 92 antibodies

The DNASU plasmid repository

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DNASUi
60506

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
60506
DisGeNETi60506

GeneCards: human genes, protein and diseases

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GeneCardsi
NYX
GeneReviewsiNYX
HGNCiHGNC:8082 NYX
HPAiENSG00000188937 Tissue enriched (retina)
MalaCardsiNYX
MIMi300278 gene
310500 phenotype
neXtProtiNX_Q9GZU5
OpenTargetsiENSG00000188937
Orphaneti215 Congenital stationary night blindness
PharmGKBiPA31871

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4237 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00940000160782
HOGENOMiCLU_000288_18_6_1
InParanoidiQ9GZU5
KOiK08129
OMAiHNEYIRY
OrthoDBi826997at2759
PhylomeDBiQ9GZU5
TreeFamiTF337463

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Nyctalopin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
60506
PharosiQ9GZU5 Tbio

Protein Ontology

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PROi
PR:Q9GZU5
RNActiQ9GZU5 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000188937 Expressed in myocardium and 66 other tissues
GenevisibleiQ9GZU5 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF13855 LRR_8, 2 hits
SMARTiView protein in SMART
SM00369 LRR_TYP, 9 hits
SM00082 LRRCT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNYX_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9GZU5
Secondary accession number(s): D3DWC0
, Q2M1S4, Q5H983, Q9H4J0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: March 1, 2001
Last modified: April 22, 2020
This is version 158 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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