Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q16518 (RPE65_HUMAN)

Protein

Retinoid isomerohydrolase

Gene

RPE65

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

Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity).By similarity3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Fe2+By similarityNote: Binds 1 Fe2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi180Iron; catalyticBy similarity1
Metal bindingi241Iron; catalyticBy similarity1
Metal bindingi313Iron; catalyticBy similarity1
Metal bindingi527Iron; catalyticBy similarity1

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 functionHydrolase, Isomerase
Biological processSensory transduction, Vision
LigandIron, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:ENSG00000116745-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000687

<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:
Retinoid isomerohydrolase (EC:3.1.1.64By similarity)
Alternative name(s):
All-trans-retinyl-palmitate hydrolase
Meso-zeaxanthin isomerase1 Publication (EC:5.3.3.-1 Publication)
Retinal pigment epithelium-specific 65 kDa protein
Retinol isomerase
<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:RPE65
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000116745.6

Human Gene Nomenclature Database

More...HGNCi		HGNC:10294 RPE65

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		180069 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q16518

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Microsome

<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

Leber congenital amaurosis 2 (LCA2)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
See also OMIM:204100
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_01712622L → P in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61751277EnsemblClinVar.1
Natural variantiVAR_06080836 – 38Missing in LCA2. 1 Publication3
Natural variantiVAR_01712740G → S in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61751281EnsemblClinVar.1
Natural variantiVAR_01712844R → Q in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61751282EnsemblClinVar.1
Natural variantiVAR_01712968H → Y in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752866EnsemblClinVar.1
Natural variantiVAR_06716191R → P in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752873EnsemblClinVar.1
Natural variantiVAR_01713191R → Q in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752873EnsemblClinVar.1
Natural variantiVAR_017133144Y → D in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61752880EnsemblClinVar.1
Natural variantiVAR_060813148E → D in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752882EnsemblClinVar.1
Natural variantiVAR_060815182H → N in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752884EnsemblClinVar.1
Natural variantiVAR_017134182H → Y in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61752884EnsemblClinVar.1
Natural variantiVAR_080043234 – 533Missing in LCA2; unknown pathological significance. 1 PublicationAdd BLAST300
Natural variantiVAR_017135287V → F in LCA2. 1 PublicationCorresponds to variant dbSNP:rs281865289EnsemblClinVar.1
Natural variantiVAR_067163313H → R in LCA2. 1 Publication1
Natural variantiVAR_060818330C → Y in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61752908EnsemblClinVar.1
Natural variantiVAR_017138363P → T in LCA2. 3 PublicationsCorresponds to variant dbSNP:rs121917744EnsemblClinVar.1
Natural variantiVAR_060819393A → E in LCA2. 1 Publication1
Natural variantiVAR_017140393A → G in LCA2. 1 PublicationCorresponds to variant dbSNP:rs62635773EnsemblClinVar.1
Natural variantiVAR_017141417E → Q in LCA2. 1 PublicationCorresponds to variant dbSNP:rs62636299EnsemblClinVar.1
Natural variantiVAR_018151431Y → C in LCA2. 1 PublicationCorresponds to variant dbSNP:rs62636300EnsemblClinVar.1
Natural variantiVAR_034477434A → V in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs34627040EnsemblClinVar.1
Natural variantiVAR_060820435Y → C in LCA2. 1 PublicationCorresponds to variant dbSNP:rs62636302EnsemblClinVar.1
Natural variantiVAR_060822470P → L in LCA2. 1 Publication1
Retinitis pigmentosa 20 (RP20)6 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:613794
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07167260L → P in RP20. 1 Publication1
Natural variantiVAR_06080979Y → H in RP20. 1 PublicationCorresponds to variant dbSNP:rs61752869EnsemblClinVar.1
Natural variantiVAR_06081085R → H in RP20; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61752870EnsemblClinVar.1
Natural variantiVAR_01713091R → W in RP20. 5 PublicationsCorresponds to variant dbSNP:rs61752871EnsemblClinVar.1
Natural variantiVAR_06081195E → Q in RP20. 1 PublicationCorresponds to variant dbSNP:rs61752874EnsemblClinVar.1
Natural variantiVAR_017132132A → T in RP20; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61752878EnsemblClinVar.1
Natural variantiVAR_060817294K → T in RP20. 1 PublicationCorresponds to variant dbSNP:rs61752901EnsemblClinVar.1
Natural variantiVAR_017137341L → S in RP20. 1 PublicationCorresponds to variant dbSNP:rs61752909EnsemblClinVar.1
Natural variantiVAR_017139368Y → H in RP20. 2 PublicationsCorresponds to variant dbSNP:rs62653011EnsemblClinVar.1
Natural variantiVAR_060821436G → V in RP20. 1 PublicationCorresponds to variant dbSNP:rs62637002EnsemblClinVar.1
Natural variantiVAR_017142452V → G in RP20. 1 PublicationCorresponds to variant dbSNP:rs62637004EnsemblClinVar.1
Natural variantiVAR_060823473V → D in RP20. 3 PublicationsCorresponds to variant dbSNP:rs62637007EnsemblClinVar.1
Natural variantiVAR_037619515R → W in RP20; this mutation has been found in compound heterozygosity in LCA2. 1 PublicationCorresponds to variant dbSNP:rs121917745EnsemblClinVar.1
Natural variantiVAR_060824528G → V in RP20. 1 Publication1
Defects in RPE65 are a cause of autosomal dominant retinitis pigmentosa with choroidal involvement (PubMed:21654732). Affected individuals show reduction of central vision, constriction of visual fields, night blindness and chorioretinal atrophy.1 Publication

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>Mutagenesisi106C → A: No loss of enzymatic activity. No effect on palmitoylation. No loss of membrane association. 1 Publication1
Mutagenesisi112C → A: Loss of enzymatic activity. No palmitoylation. Loss of membrane association. 1 Publication1
Mutagenesisi180H → A: Loss of enzymatic activity. 1 Publication1
Mutagenesisi241H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication1
Mutagenesisi313H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication1
Mutagenesisi469E → A: Decreasing protein levels. Loss of enzymatic activity. 1 Publication1
Mutagenesisi469E → Q: Decreasing protein levels. Loss of enzymatic activity. 1 Publication1
Mutagenesisi527H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...DisGeNETi		6121

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

More...GeneReviewsi		RPE65

MalaCards human disease database

More...MalaCardsi		RPE65
MIMi204100 phenotype
613794 phenotype

Open Targets

More...OpenTargetsi		ENSG00000116745

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

More...Orphaneti		65 Leber congenital amaurosis
791 Retinitis pigmentosa
364055 Severe early-childhood-onset retinal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34655

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3831182

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RPE65

Domain mapping of disease mutations (DMDM)

More...DMDMi		44888872

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<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_00001439432 – 533Retinoid isomerohydrolaseAdd BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineBy similarity1
Modified residuei101Phosphothreonine1 Publication1
Modified residuei105Phosphothreonine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi112S-palmitoyl cysteine; in membrane form1 Publication1
Modified residuei113N6-acetyllysine1 Publication1
Modified residuei117Phosphoserine1 Publication1
Lipidationi231S-palmitoyl cysteine; in membrane formBy similarity1
Lipidationi329S-palmitoyl cysteine; in membrane formBy similarity1
Lipidationi330S-palmitoyl cysteine; in membrane formBy similarity1

<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

Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A) (By similarity).By similarity

Keywords - PTMi

Acetylation, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

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

More...PaxDbi		Q16518

PeptideAtlas

More...PeptideAtlasi		Q16518

PRoteomics IDEntifications database

More...PRIDEi		Q16518

ProteomicsDB human proteome resource

More...ProteomicsDBi		60891

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q16518

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

More...PhosphoSitePlusi		Q16518

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q16518

<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

Retina (at protein level). Retinal pigment epithelium specific.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116745 Expressed in 55 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

More...CleanExi		HS_RPE65

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q16518 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

Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112041, 8 interactors

Protein interaction database and analysis system

More...IntActi		Q16518, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262340

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q16518

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

More...SMRi		Q16518

Database of comparative protein structure models

More...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

<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

Belongs to the carotenoid oxygenase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1285 Eukaryota
COG3670 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153415

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000232156

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG050679

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q16518

KEGG Orthology (KO)

More...KOi		K11158

Identification of Orthologs from Complete Genome Data

More...OMAi		ITEFGTF

Database of Orthologous Groups

More...OrthoDBi		EOG091G04WW

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q16518

TreeFam database of animal gene trees

More...TreeFami		TF314019

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004294 Carotenoid_Oase

The PANTHER Classification System

More...PANTHERi		PTHR10543 PTHR10543, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03055 RPE65, 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>Sequencei

<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.

<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 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.

Q16518-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSIQVEHPAG GYKKLFETVE ELSSPLTAHV TGRIPLWLTG SLLRCGPGLF 
        60         70         80         90        100
EVGSEPFYHL FDGQALLHKF DFKEGHVTYH RRFIRTDAYV RAMTEKRIVI 
       110        120        130        140        150
TEFGTCAFPD PCKNIFSRFF SYFRGVEVTD NALVNVYPVG EDYYACTETN 
       160        170        180        190        200
FITKINPETL ETIKQVDLCN YVSVNGATAH PHIENDGTVY NIGNCFGKNF 
       210        220        230        240        250
SIAYNIVKIP PLQADKEDPI SKSEIVVQFP CSDRFKPSYV HSFGLTPNYI 
       260        270        280        290        300
VFVETPVKIN LFKFLSSWSL WGANYMDCFE SNETMGVWLH IADKKRKKYL 
       310        320        330        340        350
NNKYRTSPFN LFHHINTYED NGFLIVDLCC WKGFEFVYNY LYLANLRENW 
       360        370        380        390        400
EEVKKNARKA PQPEVRRYVL PLNIDKADTG KNLVTLPNTT ATAILCSDET 
       410        420        430        440        450
IWLEPEVLFS GPRQAFEFPQ INYQKYCGKP YTYAYGLGLN HFVPDRLCKL 
       460        470        480        490        500
NVKTKETWVW QEPDSYPSEP IFVSHPDALE EDDGVVLSVV VSPGAGQKPA 
       510        520        530 
YLLILNAKDL SEVARAEVEI NIPVTFHGLF KKS
Length:533
Mass (Da):60,948
Last modified:January 23, 2007 - v3
<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:i7193C93F3325798D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti254E → G in BAF82614 (PubMed:14702039).Curated1
Sequence conflicti274N → D in BAF82614 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01712622L → P in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61751277EnsemblClinVar.1
Natural variantiVAR_06080836 – 38Missing in LCA2. 1 Publication3
Natural variantiVAR_01712740G → S in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61751281EnsemblClinVar.1
Natural variantiVAR_01712844R → Q in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61751282EnsemblClinVar.1
Natural variantiVAR_07167260L → P in RP20. 1 Publication1
Natural variantiVAR_07017267L → R Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 Publication1
Natural variantiVAR_01712968H → Y in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752866EnsemblClinVar.1
Natural variantiVAR_06716070F → V in LCA2 and RP20. 2 Publications1
Natural variantiVAR_06080979Y → H in RP20. 1 PublicationCorresponds to variant dbSNP:rs61752869EnsemblClinVar.1
Natural variantiVAR_06081085R → H in RP20; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61752870EnsemblClinVar.1
Natural variantiVAR_06716191R → P in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752873EnsemblClinVar.1
Natural variantiVAR_01713191R → Q in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752873EnsemblClinVar.1
Natural variantiVAR_01713091R → W in RP20. 5 PublicationsCorresponds to variant dbSNP:rs61752871EnsemblClinVar.1
Natural variantiVAR_06081195E → Q in RP20. 1 PublicationCorresponds to variant dbSNP:rs61752874EnsemblClinVar.1
Natural variantiVAR_06716299V → I Found in a patient with LCA2; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143056561Ensembl.1
Natural variantiVAR_060812102E → K in RP20 and LCA2. 2 PublicationsCorresponds to variant dbSNP:rs62642584EnsemblClinVar.1
Natural variantiVAR_017132132A → T in RP20; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61752878EnsemblClinVar.1
Natural variantiVAR_017133144Y → D in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61752880EnsemblClinVar.1
Natural variantiVAR_060813148E → D in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752882EnsemblClinVar.1
Natural variantiVAR_060814167D → Y in RP20 and LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61752883EnsemblClinVar.1
Natural variantiVAR_060815182H → N in LCA2. 1 PublicationCorresponds to variant dbSNP:rs61752884EnsemblClinVar.1
Natural variantiVAR_017134182H → Y in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61752884EnsemblClinVar.1
Natural variantiVAR_080043234 – 533Missing in LCA2; unknown pathological significance. 1 PublicationAdd BLAST300
Natural variantiVAR_060816239Y → D in LCA2 and RP20. 2 PublicationsCorresponds to variant dbSNP:rs61752896EnsemblClinVar.1
Natural variantiVAR_017135287V → F in LCA2. 1 PublicationCorresponds to variant dbSNP:rs281865289EnsemblClinVar.1
Natural variantiVAR_060817294K → T in RP20. 1 PublicationCorresponds to variant dbSNP:rs61752901EnsemblClinVar.1
Natural variantiVAR_067163313H → R in LCA2. 1 Publication1
Natural variantiVAR_017136321N → K3 PublicationsCorresponds to variant dbSNP:rs149916178EnsemblClinVar.1
Natural variantiVAR_060818330C → Y in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs61752908EnsemblClinVar.1
Natural variantiVAR_067164333G → R Found in a patient with LCA2. 1 Publication1
Natural variantiVAR_017137341L → S in RP20. 1 PublicationCorresponds to variant dbSNP:rs61752909EnsemblClinVar.1
Natural variantiVAR_017138363P → T in LCA2. 3 PublicationsCorresponds to variant dbSNP:rs121917744EnsemblClinVar.1
Natural variantiVAR_070173368Y → C Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs62653012EnsemblClinVar.1
Natural variantiVAR_017139368Y → H in RP20. 2 PublicationsCorresponds to variant dbSNP:rs62653011EnsemblClinVar.1
Natural variantiVAR_060819393A → E in LCA2. 1 Publication1
Natural variantiVAR_017140393A → G in LCA2. 1 PublicationCorresponds to variant dbSNP:rs62635773EnsemblClinVar.1
Natural variantiVAR_017141417E → Q in LCA2. 1 PublicationCorresponds to variant dbSNP:rs62636299EnsemblClinVar.1
Natural variantiVAR_018151431Y → C in LCA2. 1 PublicationCorresponds to variant dbSNP:rs62636300EnsemblClinVar.1
Natural variantiVAR_034477434A → V in LCA2. 2 PublicationsCorresponds to variant dbSNP:rs34627040EnsemblClinVar.1
Natural variantiVAR_060820435Y → C in LCA2. 1 PublicationCorresponds to variant dbSNP:rs62636302EnsemblClinVar.1
Natural variantiVAR_060821436G → V in RP20. 1 PublicationCorresponds to variant dbSNP:rs62637002EnsemblClinVar.1
Natural variantiVAR_017142452V → G in RP20. 1 PublicationCorresponds to variant dbSNP:rs62637004EnsemblClinVar.1
Natural variantiVAR_060822470P → L in LCA2. 1 Publication1
Natural variantiVAR_060823473V → D in RP20. 3 PublicationsCorresponds to variant dbSNP:rs62637007EnsemblClinVar.1
Natural variantiVAR_067757477D → G Probable disease-associated mutation found in autosomal dominant retinitis pigmentosa with choroidal involvement. 1 Publication1
Natural variantiVAR_037619515R → W in RP20; this mutation has been found in compound heterozygosity in LCA2. 1 PublicationCorresponds to variant dbSNP:rs121917745EnsemblClinVar.1
Natural variantiVAR_060824528G → V in RP20. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U18991 mRNA Translation: AAA99012.1
U20510
, U20476, U20477, U20478, U20479, U20481, U20482, U20484, U20485, U20486 Genomic DNA Translation: AAC14586.1
AF039868
, AF039855, AF039856, AF039857, AF039858, AF039859, AF039860, AF039861, AF039862, AF039863, AF039864, AF039865, AF039866, AF039867 Genomic DNA Translation: AAC39660.1
AK289925 mRNA Translation: BAF82614.1
AL139413 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06478.1
BC075035 mRNA Translation: AAH75035.1
BC075036 mRNA Translation: AAH75036.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS643.1

NCBI Reference Sequences

More...RefSeqi		NP_000320.1, NM_000329.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.2133

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262340; ENSP00000262340; ENSG00000116745

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6121

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6121

UCSC genome browser

More...UCSCi		uc001dei.2 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_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 RPE65 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U18991 mRNA Translation: AAA99012.1
U20510
, U20476, U20477, U20478, U20479, U20481, U20482, U20484, U20485, U20486 Genomic DNA Translation: AAC14586.1
AF039868
, AF039855, AF039856, AF039857, AF039858, AF039859, AF039860, AF039861, AF039862, AF039863, AF039864, AF039865, AF039866, AF039867 Genomic DNA Translation: AAC39660.1
AK289925 mRNA Translation: BAF82614.1
AL139413 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06478.1
BC075035 mRNA Translation: AAH75035.1
BC075036 mRNA Translation: AAH75036.1
CCDSiCCDS643.1
RefSeqiNP_000320.1, NM_000329.2
UniGeneiHs.2133

3D structure databases

ProteinModelPortaliQ16518
SMRiQ16518
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112041, 8 interactors
IntActiQ16518, 1 interactor
STRINGi9606.ENSP00000262340

Chemistry databases

ChEMBLiCHEMBL3831182
SwissLipidsiSLP:000000687

PTM databases

iPTMnetiQ16518
PhosphoSitePlusiQ16518
SwissPalmiQ16518

Polymorphism and mutation databases

BioMutaiRPE65
DMDMi44888872

Proteomic databases

PaxDbiQ16518
PeptideAtlasiQ16518
PRIDEiQ16518
ProteomicsDBi60891

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262340; ENSP00000262340; ENSG00000116745
GeneIDi6121
KEGGihsa:6121
UCSCiuc001dei.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6121
DisGeNETi6121
EuPathDBiHostDB:ENSG00000116745.6

GeneCards: human genes, protein and diseases

More...GeneCardsi		RPE65
GeneReviewsiRPE65
HGNCiHGNC:10294 RPE65
MalaCardsiRPE65
MIMi180069 gene
204100 phenotype
613794 phenotype
neXtProtiNX_Q16518
OpenTargetsiENSG00000116745
Orphaneti65 Leber congenital amaurosis
791 Retinitis pigmentosa
364055 Severe early-childhood-onset retinal dystrophy
PharmGKBiPA34655

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1285 Eukaryota
COG3670 LUCA
GeneTreeiENSGT00940000153415
HOGENOMiHOG000232156
HOVERGENiHBG050679
InParanoidiQ16518
KOiK11158
OMAiITEFGTF
OrthoDBiEOG091G04WW
PhylomeDBiQ16518
TreeFamiTF314019

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000116745-MONOMER
ReactomeiR-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		RPE65 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RPE65

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

More...GenomeRNAii		6121

Protein Ontology

More...PROi		PR:Q16518

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116745 Expressed in 55 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_RPE65
GenevisibleiQ16518 HS

Family and domain databases

InterProiView protein in InterPro
IPR004294 Carotenoid_Oase
PANTHERiPTHR10543 PTHR10543, 1 hit
PfamiView protein in Pfam
PF03055 RPE65, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...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 nameiRPE65_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: Q16518
Secondary accession number(s): A8K1L0, Q5T9U3
<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: October 10, 2003
Last sequence update: January 23, 2007
Last modified: December 5, 2018
This is version 156 of the entry and version 3 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again