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Entry version 183 (13 Feb 2019)
Sequence version 1 (01 Nov 1999)
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Protein

Photoreceptor-specific nuclear receptor

Gene

NR2E3

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

Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi44 – 120Nuclear receptorPROSITE-ProRule annotationAdd BLAST77
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri47 – 67NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri83 – 108NR C4-typePROSITE-ProRule annotationAdd BLAST26

<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 - Molecular functioni

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

Molecular functionDNA-binding, Receptor, Repressor
Biological processSensory transduction, Transcription, Transcription regulation, Vision
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-383280 Nuclear Receptor transcription pathway

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q9Y5X4

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y5X4

<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_and_taxonomy_section">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:
Photoreceptor-specific nuclear receptor
Alternative name(s):
Nuclear receptor subfamily 2 group E member 3
Retina-specific nuclear receptor
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:NR2E3
Synonyms:PNR, RNR
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000278570.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7974 NR2E3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604485 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y5X4

<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

Nucleus

<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

Enhanced S cone syndrome (ESCS)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
See also OMIM:268100
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_00926567 – 69Missing in ESCS. 3 Publications3
Natural variantiVAR_00926676R → Q in ESCS. 1 PublicationCorresponds to variant dbSNP:rs104894493EnsemblClinVar.1
Natural variantiVAR_00926776R → W in ESCS. 1 PublicationCorresponds to variant dbSNP:rs104894492EnsemblClinVar.1
Natural variantiVAR_02083988G → V in ESCS. 1 PublicationCorresponds to variant dbSNP:rs1278137915Ensembl.1
Natural variantiVAR_01002597R → H in ESCS. 3 PublicationsCorresponds to variant dbSNP:rs1489149705Ensembl.1
Natural variantiVAR_010026104R → W in ESCS. 2 PublicationsCorresponds to variant dbSNP:rs990307718Ensembl.1
Natural variantiVAR_010027121E → K in ESCS. 1 PublicationCorresponds to variant dbSNP:rs146403122EnsemblClinVar.1
Natural variantiVAR_010031234W → S in ESCS. 2 Publications1
Natural variantiVAR_020840256A → E in ESCS. 2 PublicationsCorresponds to variant dbSNP:rs377257254EnsemblClinVar.1
Natural variantiVAR_020841263L → P in ESCS; impairs protein folding. 2 Publications1
Natural variantiVAR_010033309R → G in ESCS; impairs protein folding and stability. 3 PublicationsCorresponds to variant dbSNP:rs774102273Ensembl.1
Natural variantiVAR_010034311R → Q in ESCS; impairs protein folding and stability and hinders the ability to form stable dimers. 7 PublicationsCorresponds to variant dbSNP:rs28937873EnsemblClinVar.1
Natural variantiVAR_020842336L → P in ESCS; impairs protein folding and stability. 2 PublicationsCorresponds to variant dbSNP:rs752883545EnsemblClinVar.1
Natural variantiVAR_020843353L → V in ESCS; impairs protein folding and stability. 2 Publications1
Natural variantiVAR_010035385R → P in ESCS. 1 PublicationCorresponds to variant dbSNP:rs766769900Ensembl.1
Natural variantiVAR_010036407M → K in ESCS; impairs protein folding and stability. 3 PublicationsCorresponds to variant dbSNP:rs1303613101Ensembl.1
Retinitis pigmentosa 37 (RP37)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:611131
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03702656G → R in RP37. 2 PublicationsCorresponds to variant dbSNP:rs121912631EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi372L → R: Reduces transcription repressor activity. 1 Publication1
Mutagenesisi375L → R: Reduces transcription repressor activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
10002

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

More...
GeneReviewsi
NR2E3

MalaCards human disease database

More...
MalaCardsi
NR2E3
MIMi268100 phenotype
611131 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000278570

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

More...
Orphaneti
53540 Goldmann-Favre syndrome
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31757

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4374

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NR2E3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
8928275

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000535991 – 410Photoreceptor-specific nuclear receptorAdd BLAST410

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki185Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki330Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki337Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Di- and tri-sumoylated in developing retina. PIAS3-mediated sumoylation promotes repression of cone-specific gene expression and activation of rod-specific genes. Sumoylation on Lys-185 appears to be the main site (By similarity).By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y5X4

PeptideAtlas

More...
PeptideAtlasi
Q9Y5X4

PRoteomics IDEntifications database

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PRIDEi
Q9Y5X4

ProteomicsDB human proteome resource

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ProteomicsDBi
86529
86530 [Q9Y5X4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y5X4

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

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PhosphoSitePlusi
Q9Y5X4

<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

Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000278570 Expressed in 96 organ(s), highest expression level in buccal mucosa cell

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y5X4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y5X4 HS

<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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Interacts with PIAS3; the interaction sumoylates NR2E3 and promotes repression of cone-specific gene transcription and activation of rod-specific genes (By similarity). Component of a complex that includes NR2E3, PIAS3, NRL, CRX and/or NR1D1. Binds NR1D1. Binds directly in the complex with CRX, PIAS3 and NR1D1 (By similarity). Interacts (via the DNA-binding domain) with CRX (via its DNA binding domain); the interaction represses S- and M-cone opsin expression.By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115320, 19 interactors

Protein interaction database and analysis system

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IntActi
Q9Y5X4, 1 interactor

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9Y5X4

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1410
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4LOGX-ray2.70A/B217-410[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y5X4

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9Y5X4

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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_and_domains_section">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>Domaini169 – 410NR LBDPROSITE-ProRule annotationAdd BLAST242

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 biasi371 – 375Poly-Leu5

<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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri47 – 67NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri83 – 108NR C4-typePROSITE-ProRule annotationAdd BLAST26

Keywords - Domaini

Zinc-finger

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156926

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000260820

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005606

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y5X4

KEGG Orthology (KO)

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KOi
K08546

Identification of Orthologs from Complete Genome Data

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OMAi
TRPTALM

Database of Orthologous Groups

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OrthoDBi
870262at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y5X4

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.50.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR000003 Retinoid-X_rcpt/HNF4
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA

Pfam protein domain database

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Pfami
View protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00545 RETINOIDXR
PR00398 STRDHORMONER
PR00047 STROIDFINGER

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48508 SSF48508, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform Long (identifier: Q9Y5X4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
METRPTALMS STVAAAAPAA GAASRKESPG RWGLGEDPTG VSPSLQCRVC
60 70 80 90 100
GDSSSGKHYG IYACNGCSGF FKRSVRRRLI YRCQVGAGMC PVDKAHRNQC
110 120 130 140 150
QACRLKKCLQ AGMNQDAVQN ERQPRSTAQV HLDSMESNTE SRPESLVAPP
160 170 180 190 200
APAGRSPRGP TPMSAARALG HHFMASLITA ETCAKLEPED ADENIDVTSN
210 220 230 240 250
DPEFPSSPYS SSSPCGLDSI HETSARLLFM AVKWAKNLPV FSSLPFRDQV
260 270 280 290 300
ILLEEAWSEL FLLGAIQWSL PLDSCPLLAP PEASAAGGAQ GRLTLASMET
310 320 330 340 350
RVLQETISRF RALAVDPTEF ACMKALVLFK PETRGLKDPE HVEALQDQSQ
360 370 380 390 400
VMLSQHSKAH HPSQPVRFGK LLLLLPSLRF ITAERIELLF FRKTIGNTPM
410
EKLLCDMFKN
Length:410
Mass (Da):44,692
Last modified:November 1, 1999 - 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:iD49525830ED0A000
GO
Isoform Short (identifier: Q9Y5X4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     368-410: Missing.

Show »
Length:367
Mass (Da):39,638
Checksum:iF67A09D430754B3D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q8IVZ9Q8IVZ9_HUMAN
NR2E3 protein
NR2E3
322Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06276844S → L Associated with autosomal recessive retinitis pigmentosa. 1 PublicationCorresponds to variant dbSNP:rs202098481EnsemblClinVar.1
Natural variantiVAR_03702656G → R in RP37. 2 PublicationsCorresponds to variant dbSNP:rs121912631EnsemblClinVar.1
Natural variantiVAR_00926567 – 69Missing in ESCS. 3 Publications3
Natural variantiVAR_00926676R → Q in ESCS. 1 PublicationCorresponds to variant dbSNP:rs104894493EnsemblClinVar.1
Natural variantiVAR_00926776R → W in ESCS. 1 PublicationCorresponds to variant dbSNP:rs104894492EnsemblClinVar.1
Natural variantiVAR_02083988G → V in ESCS. 1 PublicationCorresponds to variant dbSNP:rs1278137915Ensembl.1
Natural variantiVAR_01002597R → H in ESCS. 3 PublicationsCorresponds to variant dbSNP:rs1489149705Ensembl.1
Natural variantiVAR_062769104R → Q Associated with ESCS. 1 PublicationCorresponds to variant dbSNP:rs766096417EnsemblClinVar.1
Natural variantiVAR_010026104R → W in ESCS. 2 PublicationsCorresponds to variant dbSNP:rs990307718Ensembl.1
Natural variantiVAR_010027121E → K in ESCS. 1 PublicationCorresponds to variant dbSNP:rs146403122EnsemblClinVar.1
Natural variantiVAR_010028140E → G2 PublicationsCorresponds to variant dbSNP:rs1805020EnsemblClinVar.1
Natural variantiVAR_010029163M → T2 PublicationsCorresponds to variant dbSNP:rs1805021EnsemblClinVar.1
Natural variantiVAR_010030232V → I1 PublicationCorresponds to variant dbSNP:rs1805023EnsemblClinVar.1
Natural variantiVAR_010031234W → S in ESCS. 2 Publications1
Natural variantiVAR_020840256A → E in ESCS. 2 PublicationsCorresponds to variant dbSNP:rs377257254EnsemblClinVar.1
Natural variantiVAR_020841263L → P in ESCS; impairs protein folding. 2 Publications1
Natural variantiVAR_062770287G → S Associated with autosomal recessive retinitis pigmentosa. 1 PublicationCorresponds to variant dbSNP:rs764901119Ensembl.1
Natural variantiVAR_010032302V → I1 PublicationCorresponds to variant dbSNP:rs1805025EnsemblClinVar.1
Natural variantiVAR_010033309R → G in ESCS; impairs protein folding and stability. 3 PublicationsCorresponds to variant dbSNP:rs774102273Ensembl.1
Natural variantiVAR_010034311R → Q in ESCS; impairs protein folding and stability and hinders the ability to form stable dimers. 7 PublicationsCorresponds to variant dbSNP:rs28937873EnsemblClinVar.1
Natural variantiVAR_062771324K → R Associated with autosomal recessive retinitis pigmentosa. 1 Publication1
Natural variantiVAR_062772334R → G Associated with ESCS; impairs protein folding and stability. 2 Publications1
Natural variantiVAR_020842336L → P in ESCS; impairs protein folding and stability. 2 PublicationsCorresponds to variant dbSNP:rs752883545EnsemblClinVar.1
Natural variantiVAR_020843353L → V in ESCS; impairs protein folding and stability. 2 Publications1
Natural variantiVAR_010035385R → P in ESCS. 1 PublicationCorresponds to variant dbSNP:rs766769900Ensembl.1
Natural variantiVAR_010036407M → K in ESCS; impairs protein folding and stability. 3 PublicationsCorresponds to variant dbSNP:rs1303613101Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_003679368 – 410Missing in isoform Short. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF121129 mRNA Translation: AAD28301.1
AF148128 mRNA Translation: AAF22227.1
AJ276674 Genomic DNA Translation: CAB82769.1
AB307710 mRNA Translation: BAH02301.1
CH471082 Genomic DNA Translation: EAW77876.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS73750.1 [Q9Y5X4-1]
CCDS73751.1 [Q9Y5X4-2]

NCBI Reference Sequences

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RefSeqi
NP_055064.1, NM_014249.3 [Q9Y5X4-1]
NP_057430.1, NM_016346.3 [Q9Y5X4-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.187354
Hs.636007

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000617575; ENSP00000482504; ENSG00000278570 [Q9Y5X4-1]
ENST00000621098; ENSP00000479962; ENSG00000278570 [Q9Y5X4-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10002

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10002

UCSC genome browser

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UCSCi
uc032cik.2 human [Q9Y5X4-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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_references_section">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 NR2E3 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF121129 mRNA Translation: AAD28301.1
AF148128 mRNA Translation: AAF22227.1
AJ276674 Genomic DNA Translation: CAB82769.1
AB307710 mRNA Translation: BAH02301.1
CH471082 Genomic DNA Translation: EAW77876.1
CCDSiCCDS73750.1 [Q9Y5X4-1]
CCDS73751.1 [Q9Y5X4-2]
RefSeqiNP_055064.1, NM_014249.3 [Q9Y5X4-1]
NP_057430.1, NM_016346.3 [Q9Y5X4-2]
UniGeneiHs.187354
Hs.636007

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4LOGX-ray2.70A/B217-410[»]
ProteinModelPortaliQ9Y5X4
SMRiQ9Y5X4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115320, 19 interactors
IntActiQ9Y5X4, 1 interactor

Chemistry databases

BindingDBiQ9Y5X4
ChEMBLiCHEMBL4374

PTM databases

iPTMnetiQ9Y5X4
PhosphoSitePlusiQ9Y5X4

Polymorphism and mutation databases

BioMutaiNR2E3
DMDMi8928275

Proteomic databases

jPOSTiQ9Y5X4
PeptideAtlasiQ9Y5X4
PRIDEiQ9Y5X4
ProteomicsDBi86529
86530 [Q9Y5X4-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10002
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000617575; ENSP00000482504; ENSG00000278570 [Q9Y5X4-1]
ENST00000621098; ENSP00000479962; ENSG00000278570 [Q9Y5X4-2]
GeneIDi10002
KEGGihsa:10002
UCSCiuc032cik.2 human [Q9Y5X4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10002
DisGeNETi10002
EuPathDBiHostDB:ENSG00000278570.4

GeneCards: human genes, protein and diseases

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GeneCardsi
NR2E3
GeneReviewsiNR2E3
HGNCiHGNC:7974 NR2E3
MalaCardsiNR2E3
MIMi268100 phenotype
604485 gene
611131 phenotype
neXtProtiNX_Q9Y5X4
OpenTargetsiENSG00000278570
Orphaneti53540 Goldmann-Favre syndrome
791 Retinitis pigmentosa
PharmGKBiPA31757

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000156926
HOGENOMiHOG000260820
HOVERGENiHBG005606
InParanoidiQ9Y5X4
KOiK08546
OMAiTRPTALM
OrthoDBi870262at2759
PhylomeDBiQ9Y5X4

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
SignaLinkiQ9Y5X4
SIGNORiQ9Y5X4

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Photoreceptor_cell-specific_nuclear_receptor

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

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GenomeRNAii
10002

Protein Ontology

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PROi
PR:Q9Y5X4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000278570 Expressed in 96 organ(s), highest expression level in buccal mucosa cell
ExpressionAtlasiQ9Y5X4 baseline and differential
GenevisibleiQ9Y5X4 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR000003 Retinoid-X_rcpt/HNF4
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR00545 RETINOIDXR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<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 nameiNR2E3_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: Q9Y5X4
Secondary accession number(s): B6ZGU0, Q9UHM4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: February 13, 2019
This is version 183 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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