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Aliases for RPE65 Gene

Aliases for RPE65 Gene

  • RPE65, Retinoid Isomerohydrolase 2 3 5
  • All-Trans-Retinyl-Palmitate Hydrolase 2 3 4
  • Retinol Isomerase 2 3 4
  • Retinal Pigment Epithelium-Specific 65 KDa Protein 3 4
  • Retinal Pigment Epithelium-Specific Protein 65kDa 2 3
  • BCO Family, Member 3 2 3
  • Retinal Pigment Epithelium Specific Protein 65 3
  • Retinitis Pigmentosa 20 (Autosomal Recessive) 3
  • RBP-Binding Membrane Protein 3
  • Retinoid Isomerohydrolase 3
  • EC 3.1.1.64 4
  • MRPE65 3
  • SRPE65 3
  • BCO3 3
  • LCA2 3
  • Rd12 3
  • RP20 3
  • P63 3

External Ids for RPE65 Gene

Previous HGNC Symbols for RPE65 Gene

  • RP20

Previous GeneCards Identifiers for RPE65 Gene

  • GC01M069028
  • GC01M067812
  • GC01M068252
  • GC01M068264
  • GC01M068606
  • GC01M068667
  • GC01M068894
  • GC01M067004

Summaries for RPE65 Gene

Entrez Gene Summary for RPE65 Gene

  • This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008]

GeneCards Summary for RPE65 Gene

RPE65 (RPE65, Retinoid Isomerohydrolase) is a Protein Coding gene. Diseases associated with RPE65 include Retinitis Pigmentosa 20 and Leber Congenital Amaurosis 2. Among its related pathways are Metabolism of fat-soluble vitamins and Phototransduction. GO annotations related to this gene include retinal isomerase activity and all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity. An important paralog of this gene is BCO2.

UniProtKB/Swiss-Prot for RPE65 Gene

  • Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. 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. The enzymatic activity is linearly dependent of the expression levels and membrane association.

Gene Wiki entry for RPE65 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPE65 Gene

Genomics for RPE65 Gene

Regulatory Elements for RPE65 Gene

Enhancers for RPE65 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F068172 1.5 FANTOM5 Ensembl ENCODE 9 +273.5 273519 7.6 TBP PKNOX1 INSM2 SIN3A FEZF1 RFX5 GLIS2 ZNF366 SCRT2 RCOR1 WLS RPE65 IL12RB2 MIR1262 CTBP2P8
GH01F068291 1.2 Ensembl ENCODE 9.9 +156.7 156673 3.5 HDAC1 PKNOX1 ATF1 TBL1XR1 FEZF1 ZNF2 GATA2 CREM USF2 CEBPB MIR1262 RPE65 WLS LOC105378782 COX6B1P7
GH01F068119 1 Ensembl ENCODE 11.1 +328.9 328895 2.5 CTCF RAD21 ZNF316 ZNF143 SMC3 MAFK SRF ZNF654 MAFG TRIM22 RPE65 CTBP2P8 GC01M068050
GH01F068111 0.9 Ensembl ENCODE 10.1 +337.4 337379 2.3 CTCF ZNF654 JUN BHLHE40 SIN3A REST RAD21 JUND ATF3 KLF16 RPE65 GNG12-AS1 GNG12 GC01M068050 CTBP2P8
GH01F068116 0.7 Ensembl 11.1 +333.0 333017 0.5 ZNF639 CTCF ZNF654 CEBPB TRIM22 ZNF501 ZEB2 REST RAD21 ZNF366 RPE65 GC01M068050 CTBP2P8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPE65 on UCSC Golden Path with GeneCards custom track

Genomic Location for RPE65 Gene

Chromosome:
1
Start:
68,428,822 bp from pter
End:
68,449,959 bp from pter
Size:
21,138 bases
Orientation:
Minus strand

Genomic View for RPE65 Gene

Genes around RPE65 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPE65 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPE65 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPE65 Gene

Proteins for RPE65 Gene

  • Protein details for RPE65 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16518-RPE65_HUMAN
    Recommended name:
    Retinoid isomerohydrolase
    Protein Accession:
    Q16518
    Secondary Accessions:
    • A8K1L0
    • Q5T9U3

    Protein attributes for RPE65 Gene

    Size:
    533 amino acids
    Molecular mass:
    60948 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.

neXtProt entry for RPE65 Gene

Post-translational modifications for RPE65 Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPE65 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPE65 Gene

Domains & Families for RPE65 Gene

Protein Domains for RPE65 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q16518

UniProtKB/Swiss-Prot:

RPE65_HUMAN :
  • Belongs to the carotenoid oxygenase family.
Family:
  • Belongs to the carotenoid oxygenase family.
genes like me logo Genes that share domains with RPE65: view

No data available for Gene Families for RPE65 Gene

Function for RPE65 Gene

Molecular function for RPE65 Gene

GENATLAS Biochemistry:
retinal pigment epithelium-specific 65,major microsomal protein,minor role in the isomerisation of all-trans to 11-cis retinal,61kDa,associated with the endoplasmic reticulum,also expressed in renal tumor cells
UniProtKB/Swiss-Prot CatalyticActivity:
An all-trans-retinyl ester + H(2)O = 11-cis-retinol + a fatty acid.
UniProtKB/Swiss-Prot Function:
Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. 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. The enzymatic activity is linearly dependent of the expression levels and membrane association.

Enzyme Numbers (IUBMB) for RPE65 Gene

Gene Ontology (GO) - Molecular Function for RPE65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding ISS --
GO:0004744 retinal isomerase activity IEA --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
GO:0016787 hydrolase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with RPE65: view
genes like me logo Genes that share phenotypes with RPE65: view

Human Phenotype Ontology for RPE65 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RPE65 Gene

MGI Knock Outs for RPE65:

Animal Model Products

miRNA for RPE65 Gene

miRTarBase miRNAs that target RPE65

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for RPE65 Gene

Localization for RPE65 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPE65 Gene

Cytoplasm. Cell membrane; Lipid-anchor. Microsome membrane. Note=Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated (By similarity). Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells. {ECO:0000250, ECO:0000269 PubMed:21493626}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPE65 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 3
peroxisome 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RPE65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,ISS --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with RPE65: view

Pathways & Interactions for RPE65 Gene

genes like me logo Genes that share pathways with RPE65: view

Pathways by source for RPE65 Gene

Gene Ontology (GO) - Biological Process for RPE65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001895 retina homeostasis IMP 15557452
GO:0003407 neural retina development IEA --
GO:0006776 vitamin A metabolic process TAS 9326941
GO:0007468 regulation of rhodopsin gene expression IEA --
genes like me logo Genes that share ontologies with RPE65: view

No data available for SIGNOR curated interactions for RPE65 Gene

Drugs & Compounds for RPE65 Gene

(3) Drugs for RPE65 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(7) Additional Compounds for RPE65 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11-cis-Retinol
  • 11-cis-Vitamin A alcohol
  • cis-11-Retinol
22737-96-8
Retinyl ester
  • All-trans-Retinyl ester
genes like me logo Genes that share compounds with RPE65: view

Transcripts for RPE65 Gene

mRNA/cDNA for RPE65 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RPE65 Gene

Retinal pigment epithelium-specific protein 65kDa:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPE65 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2: -

Relevant External Links for RPE65 Gene

GeneLoc Exon Structure for
RPE65
ECgene alternative splicing isoforms for
RPE65

Expression for RPE65 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPE65 Gene

mRNA differential expression in normal tissues according to GTEx for RPE65 Gene

This gene is overexpressed in Brain - Substantia nigra (x13.0), Brain - Hypothalamus (x10.0), and Brain - Spinal cord (cervical c-1) (x4.0).

Protein differential expression in normal tissues from HIPED for RPE65 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RPE65 Gene



Protein tissue co-expression partners for RPE65 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPE65 Gene:

RPE65

SOURCE GeneReport for Unigene cluster for RPE65 Gene:

Hs.2133

mRNA Expression by UniProt/SwissProt for RPE65 Gene:

Q16518-RPE65_HUMAN
Tissue specificity: Retinal pigment epithelium specific.
genes like me logo Genes that share expression patterns with RPE65: view

Primer Products

Orthologs for RPE65 Gene

This gene was present in the common ancestor of animals.

Orthologs for RPE65 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPE65 34 35
  • 95.68 (n)
cow
(Bos Taurus)
Mammalia RPE65 34 35
  • 95.06 (n)
oppossum
(Monodelphis domestica)
Mammalia RPE65 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPE65 34 35
  • 91.37 (n)
mouse
(Mus musculus)
Mammalia Rpe65 34 16 35
  • 89.93 (n)
rat
(Rattus norvegicus)
Mammalia Rpe65 34
  • 89.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPE65 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPE65 34 35
  • 79.24 (n)
lizard
(Anolis carolinensis)
Reptilia RPE65 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpe65 34
  • 75.55 (n)
Str.5401 34
African clawed frog
(Xenopus laevis)
Amphibia rpe65-prov 34
zebrafish
(Danio rerio)
Actinopterygii rpe65b 35
  • 75 (a)
OneToMany
rpe65a 35
  • 74 (a)
OneToMany
rpe65c 34 35
  • 69.93 (n)
zgc73213 34
fruit fly
(Drosophila melanogaster)
Insecta RPE65 36
  • 38 (a)
ninaB 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F53C3.12 36
  • 33 (a)
Y46G5A.24 36
  • 33 (a)
bcmo-1 35
  • 33 (a)
ManyToMany
bcmo-2 35
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
ManyToMany
CSA.76 35
  • 37 (a)
ManyToMany
CSA.9604 35
  • 36 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
-- 35
  • 33 (a)
ManyToMany
Species where no ortholog for RPE65 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPE65 Gene

ENSEMBL:
Gene Tree for RPE65 (if available)
TreeFam:
Gene Tree for RPE65 (if available)

Paralogs for RPE65 Gene

Paralogs for RPE65 Gene

(3) SIMAP similar genes for RPE65 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RPE65: view

Variants for RPE65 Gene

Sequence variations from dbSNP and Humsavar for RPE65 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121917744 Leber congenital amaurosis 2 (LCA2) [MIM:204100], Pathogenic 68,438,228(-) CCCAA(A/C/T)CTGAA reference, missense
rs121917745 Retinitis pigmentosa 20 (RP20) [MIM:613794], Pathogenic 68,429,835(-) TTGCC(C/T)GGGCT reference, missense
rs281865289 Leber congenital amaurosis 2 (LCA2) [MIM:204100], untested 68,439,081(-) TCAAG(G/T)TTTGG reference, missense
rs34627040 untested, Leber congenital amaurosis 2 (LCA2) [MIM:204100] 68,431,319(-) ATATG(C/T)GTATG reference, missense
rs61751277 Leber congenital amaurosis 2 (LCA2) [MIM:204100], untested 68,448,653(-) GGAAC(C/T)GTCCT reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for RPE65 Gene

Variant ID Type Subtype PubMed ID
nsv546450 CNV gain 21841781

Variation tolerance for RPE65 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPE65 Gene

Human Gene Mutation Database (HGMD)
RPE65
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPE65

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPE65 Gene

Disorders for RPE65 Gene

MalaCards: The human disease database

(31) MalaCards diseases for RPE65 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RPE65 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RPE65_HUMAN
  • Leber congenital amaurosis 2 (LCA2) [MIM:204100]: A 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. {ECO:0000269 PubMed:10090910, ECO:0000269 PubMed:10766140, ECO:0000269 PubMed:11462243, ECO:0000269 PubMed:14611946, ECO:0000269 PubMed:14962443, ECO:0000269 PubMed:15024725, ECO:0000269 PubMed:16205573, ECO:0000269 PubMed:17297704, ECO:0000269 PubMed:17724218, ECO:0000269 PubMed:18682808, ECO:0000269 PubMed:9326941, ECO:0000269 PubMed:9801879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=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. {ECO:0000269 PubMed:21654732}.
  • Retinitis pigmentosa 20 (RP20) [MIM:613794]: A 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. {ECO:0000269 PubMed:11095629, ECO:0000269 PubMed:12960219, ECO:0000269 PubMed:15557452, ECO:0000269 PubMed:22334370, ECO:0000269 PubMed:23878505, ECO:0000269 PubMed:9501220}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RPE65

Genetic Association Database (GAD)
RPE65
Human Genome Epidemiology (HuGE) Navigator
RPE65
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPE65
genes like me logo Genes that share disorders with RPE65: view

No data available for Genatlas for RPE65 Gene

Publications for RPE65 Gene

  1. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID: 17724218) Simonelli F. … Banfi S. (Invest. Ophthalmol. Vis. Sci. 2007) 3 4 22 46 64
  2. RPE65 is the isomerohydrolase in the retinoid visual cycle. (PMID: 16116091) Moiseyev G. … Ma J.X. (Proc. Natl. Acad. Sci. U.S.A. 2005) 2 3 4 22 64
  3. Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65. (PMID: 19049981) Takahashi Y. … Ma J.X. (J. Biol. Chem. 2009) 3 4 22 64
  4. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P. … Stone E.M. (Mol. Vis. 2009) 3 22 46 64
  5. Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. (PMID: 18484312) Mamatha G. … Kumaramanickavel G. (Ophthalmic Genet. 2008) 3 22 46 64

Products for RPE65 Gene

Sources for RPE65 Gene

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