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The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid ca... See more...
Aliases for RPE65 Gene
Aliases for RPE65 Gene
- Retinoid Isomerohydrolase RPE65 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
- Retinoid Isomerohydrolase 3 4
- Meso-Zeaxanthin Isomerase 3 4
- BCO Family, Member 3 2 3
- Lutein Isomerase 3 4
- BCO3 2 3
- LCA2 2 3
External Ids for RPE65 Gene
- HGNC: 10294
- Entrez Gene: 6121
- Ensembl: ENSG00000116745
- OMIM: 180069
- UniProtKB: Q16518
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
-
The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]
GeneCards Summary for RPE65 Gene
RPE65 (Retinoid Isomerohydrolase RPE65) is a Protein Coding gene. Diseases associated with RPE65 include Retinitis Pigmentosa 20 and Leber Congenital Amaurosis 2. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (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 Summary for RPE65 Gene
-
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).
Additional gene information for RPE65 Gene
- HGNC(10294)
- Entrez Gene(6121)
- Ensembl(ENSG00000116745)
- OMIM(180069)
- UniProtKB(Q16518)
- Open Targets Platform(ENSG00000116745)
- Monarch Initiative
- Search for RPE65 at DataMed
- Search for RPE65 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPE65 Gene
Genomics for RPE65 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RPE65 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RPE65 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPE65
- Top Transcription factor binding sites by QIAGEN in the RPE65 gene promoter:
-
- NF-AT
- NF-AT1
- NF-AT2
- NF-E2
- NF-E2 p45
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
Genomic Locations for RPE65 Gene
Genomic Locations for RPE65 Gene
- chr1:68,428,822-68,450,322
- (GRCh38/hg38)
- Size:
- 21,501 bases
- Orientation:
- Minus strand
- chr1:68,894,505-68,915,642
- (GRCh37/hg19)
- 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:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
RPE65 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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) (By similarity).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for RPE65 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- GeneTex Anti-RPE65 antibody [N1C3]
- Novus Biologicals Antibodies for RPE65
-
Abcam antibodies for RPE65
- Invitrogen Antibodies for RPE65 (AFLGC-RPE65)
-
Santa Cruz Biotechnology (SCBT) Antibodies for RPE65
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RPE65
- Origene Custom Protein Services for RPE65
- antibodies-online: Show 5 available RPE65 Proteins ranked by validation data
- Compare Top RPE65 Proteins
-
Quality Products:
-
Signalway Proteins for RPE65
-
Abcam proteins for RPE65
Assay Products
- antibodies-online: Show 12 available RPE65 Elisa Kits ranked by validation data
- Compare Top RPE65 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for RPE65
No data available for DME Specific Peptides for RPE65 Gene
Domains & Families for RPE65 Gene
Gene Families for RPE65 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Predicted intracellular proteins
Protein Domains for RPE65 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for RPE65 Gene
- GenScript: Design optimal peptide antigens:
-
- Retinal pigment epithelium-specific protein 65 kDa (C7FEP0_HUMAN)
- Retinal pigment epithelium-specific protein (Q2EKB8_HUMAN)
- Retinol isomerase (RPE65_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q16518- Family:
-
- Belongs to the carotenoid oxygenase family.
Function for RPE65 Gene
Molecular function for RPE65 Gene
- UniProtKB/Swiss-Prot Function:
- 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an all-trans-retinyl ester + H2O = 11-cis-retinol + a fatty acid + H(+); Xref=Rhea:RHEA:31771, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16302, ChEBI:CHEBI:28868, ChEBI:CHEBI:63410; EC=3.1.1.64; Evidence={ECO:0000269|PubMed:29659842};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=lutein = (3R,3'S)-zeaxanthin; Xref=Rhea:RHEA:12729, ChEBI:CHEBI:28838, ChEBI:CHEBI:138919; EC=5.3.3.22; Evidence={ECO:0000269|PubMed:28874556};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=all-trans-retinyl hexadecanoate + H2O = 11-cis-retinol + H(+) + hexadecanoate; Xref=Rhea:RHEA:31775, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16302, ChEBI:CHEBI:17616; EC=3.1.1.64; Evidence={ECO:0000269|PubMed:25112876};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=0.35 uM for all-trans-retinyl palmitate {ECO:0000269|PubMed:25112876}; Vmax=21 pmol/min/mg enzyme for all-trans-retinyl palmitate as substrate {ECO:0000269|PubMed:25112876};
- 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
Enzyme Numbers (IUBMB) for RPE65 Gene
Phenotypes From GWAS Catalog for RPE65 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001786 | phosphatidylserine binding | ISS | -- |
| GO:0004744 | retinal isomerase activity | IBA,ISS | -- |
| 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,IDA | 28874556 |
Phenotypes for RPE65 Gene
- MGI mutant phenotypes for RPE65:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for RPE65:
Animal Models for RPE65 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RPE65 - Select products 50% OFF >
- * RPE65 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RPE65
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPE65
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPE65
miRNA for RPE65 Gene
- miRTarBase miRNAs that target RPE65
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPE65
- Browse OriGene Inhibitory RNA Products For RPE65
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPE65
Clone Products
- Applied Biological Materials (abm): Clones for RPE65 - Select products 50% OFF >
- * RPE65 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RPE65
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPE65
Cell Line Products
-
Horizon Cell Lines for RPE65
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. Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells. {ECO:0000269 PubMed:19049981, ECO:0000269 PubMed:21493626}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| lysosome | 2 |
| endosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IDA | 29659842 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RPE65 Gene
Pathways & Interactions for RPE65 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Drug metabolism - cytochrome P450 |
Retinol metabolism
.31
|
|
| 2 | the visual cycle I (vertebrates) | ||
| 3 | Phototransduction | ||
| 4 | Visual Cycle in Retinal Rods |
Visual Cycle in Retinal Rods
-
|
|
| 5 | Signaling by GPCR | ||
Pathways by source for RPE65 Gene
4 BioSystems pathways for RPE65 Gene
3 Reactome pathways for RPE65 Gene
1 KEGG pathway for RPE65 Gene
1 GeneGo (Thomson Reuters) pathway for RPE65 Gene
- Retinol metabolism
1 Qiagen pathway for RPE65 Gene
- Visual Cycle in Retinal Rods
Interacting Proteins for RPE65 Gene
GPS-Prot Interaction Network for RPE65
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001523 | retinoid metabolic process | IDA,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 | -- |
No data available for SIGNOR curated interactions for RPE65 Gene
Transcripts for RPE65 Gene
mRNA/cDNA for RPE65 Gene
- 1 REFSEQ mRNAs :
- 4 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262340 2605 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RPE65 - Select products 50% OFF >
- * RPE65 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RPE65
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPE65
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPE65
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPE65
- Browse OriGene Inhibitory RNA Products For RPE65
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPE65
Clone Products
- Applied Biological Materials (abm): Clones for RPE65 - Select products 50% OFF >
- * RPE65 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RPE65
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPE65
| 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
Expression for RPE65 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
- Pigmented epithelium cell clusters(Idelson M et. al. 2009)
- Anterior neural specified EBs (Mellough CB et. al. 2012)
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Retinal pigment epithelium-like cells(Cho MS et. al. 2012)
- Retinal pigmented epithelial-like cells(Liao JL et. al. 2010)
- Mature retinal pigmented epithelium cells(Lu B et. al. 2009)
- NULL (Sensory Organs)
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).
This gene is overexpressed in Retina (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RPE65 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPE65
SOURCE GeneReport for Unigene cluster for RPE65 Gene:
Hs.2133mRNA Expression by UniProt/SwissProt for RPE65 Gene:
Q16518-RPE65_HUMAN
Tissue specificity:
Retina (at protein level). Retinal pigment epithelium specific.
Evidence on tissue expression from TISSUES for RPE65 Gene
- Eye(4.8)
- Nervous system(4.5)
- Skin(2.2)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RPE65 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- middle ear
- nose
- olfactory bulb
- outer ear
- skull
Abdomen:
- liver
Pelvis:
- penis
- testicle
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for RPE65
-
OriGene qPCR primer pairs and template standards for RPE65
Gene Expression Assay Products
Orthologs for RPE65 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RPE65 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RPE65 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RPE65 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RPE65 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rpe65 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rpe65 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RPE65 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RPE65 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RPE65 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rpe65 30 |
|
||
| Str.5401 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | rpe65-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rpe65b 31 |
|
OneToMany | |
| rpe65a 31 |
|
OneToMany | |||
| rpe65c 30 31 |
|
OneToMany | |||
| zgc73213 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | RPE65 32 |
|
|
|
| ninaB 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | bcmo-1 31 |
|
ManyToMany | |
| F53C3.12 32 |
|
|
|||
| Y46G5A.24 32 |
|
|
|||
| bcmo-2 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.76 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| CSA.9604 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany |
- Species where no ortholog for RPE65 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RPE65: view image
Paralogs for RPE65 Gene
Variants for RPE65 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPE65 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636202 | Uncertain Significance: Retinitis pigmentosa | 68,444,800(-) | T/C | MISSENSE_VARIANT | |
| 647699 | Uncertain Significance: Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 68,431,477(-) | G/A | MISSENSE_VARIANT | |
| 658837 | Likely Pathogenic: Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 68,438,946(-) | T/TCCA | INFRAME_INSERTION | |
| 660359 | Pathogenic/Likely Pathogenic: Retinal dystrophy; Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 68,431,509(-) | C/T | NONSENSE | |
| 708052 | Likely Benign: Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 68,448,643(-) | C/T | SYNONYMOUS_VARIANT |
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)
Additional Variant Information for RPE65 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPE65 Gene
Disorders for RPE65 Gene
(80) MalaCards diseases for RPE65 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinitis pigmentosa 20 |
|
|
| leber congenital amaurosis 2 |
|
|
| leber plus disease |
|
|
| retinitis pigmentosa 87 with choroidal involvement |
|
|
| retinal degeneration |
|
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:17964524, ECO:0000269 PubMed:18682808, ECO:0000269 PubMed:19431183, ECO:0000269 PubMed:21602930, ECO:0000269 PubMed:22509104, ECO:0000269 PubMed:28418496, ECO:0000269 PubMed:9326927, ECO:0000269 PubMed:9326941, ECO:0000269 PubMed:9801879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 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:19431183, 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.
- Retinitis pigmentosa 87 with choroidal involvement (RP87) [MIM:618697]: A form of retinitis pigmentosa, 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. RP87 is an autosomal dominant form characterized by a slowly progressive visual disturbance accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected. {ECO:0000269 PubMed:21654732, ECO:0000269 PubMed:27307694, ECO:0000269 PubMed:29659842, ECO:0000269 PubMed:30628748}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for RPE65
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for RPE65 Gene
Publications for RPE65 Gene
- Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID: 17724218) Simonelli F … Banfi S (Investigative ophthalmology & visual science 2007) 3 4 23 41
- RPE65 is the isomerohydrolase in the retinoid visual cycle. (PMID: 16116091) Moiseyev G … Ma JX (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 4 23
- Predicting the pathogenicity of RPE65 mutations. (PMID: 19431183) Philp AR … Stone EM (Human mutation 2009) 3 4 23
- Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65. (PMID: 19049981) Takahashi Y … Ma JX (The Journal of biological chemistry 2009) 3 4 23
- Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P … Stone EM (Molecular vision 2009) 3 23 41
ExternalLinks
Products for RPE65 Gene
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