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Aliases for RPE65 Gene

Aliases for RPE65 Gene

  • Retinal Pigment Epithelium-Specific Protein 65kDa 2 3
  • All-Trans-Retinyl-Palmitate Hydrolase 2 3 4
  • Retinol Isomerase 2 3 4
  • Retinal Pigment Epithelium-Specific 65 KDa Protein 3 4
  • Retinoid Isomerohydrolase 2 3
  • LCA2 3 6
  • RP20 3 6
  • Retinal Pigment Epithelium-Specific Protein (65kD) 2
  • Retinitis Pigmentosa 20 (Autosomal Recessive) 3
  • RBP-Binding Membrane Protein 3
  • BCO Family, Member 3 3
  • EC 3.1.1.64 4
  • BCO Family 2
  • Member 3 2
  • MRPE65 3
  • SRPE65 3
  • BCO3 3
  • Rd12 3
  • P63 3

External Ids for RPE65 Gene

Previous Symbols for RPE65 Gene

  • RP20

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 (Retinal Pigment Epithelium-Specific Protein 65kDa) 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 Disease. 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 BCO1.

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

Genomic Location for RPE65 Gene

Start:
68,428,822 bp from pter
End:
68,453,354 bp from pter
Size:
24,533 bases
Orientation:
Minus strand

Genomic View for RPE65 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RPE65 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPE65 Gene

Regulatory Elements 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; Note=Binds 1 Fe(2+) ion per subunit.;
    Quaternary structure:
    • Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.

neXtProt entry for RPE65 Gene

Proteomics data for RPE65 Gene at MOPED

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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RPE65 Gene

Domains for RPE65 Gene

Protein Domains for RPE65 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

RPE65_HUMAN
Family:
  • Belongs to the carotenoid oxygenase family.:
    • Q16518
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:0004744 retinal isomerase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0052884 all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity IEA --
GO:0052885 all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity IEA --
genes like me logo Genes that share ontologies with RPE65: view
genes like me logo Genes that share phenotypes with RPE65: view

Animal Models for RPE65 Gene

MGI Knock Outs for RPE65:

miRNA for RPE65 Gene

miRTarBase miRNAs that target RPE65

No data available for Transcription Factor Targeting 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
Jensen Localization Image for RPE65 Gene COMPARTMENTS Subcellular localization image for RPE65 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
cytosol 2
extracellular 2
nucleus 2
peroxisome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RPE65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0031090 organelle membrane IEA --
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with RPE65: view

Pathways 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:0006776 vitamin A metabolic process TAS 9326941
GO:0007468 regulation of rhodopsin gene expression IEA --
GO:0007601 visual perception TAS 9326941
genes like me logo Genes that share ontologies with RPE65: view

Compounds for RPE65 Gene

(1) HMDB Compounds for RPE65 Gene

Compound Synonyms Cas Number PubMed IDs
Retinyl ester
  • all-trans-Retinyl ester
Not Available

(9) Novoseek inferred chemical compound relationships for RPE65 Gene

Compound -log(P) Hits PubMed IDs
11-cis-retinol 86.4 5
retinoid 77.6 24
retinyl ester 75.9 6
vitamin a 70.1 31
retinoic acid 25.6 5
genes like me logo Genes that share compounds with RPE65: view

Transcripts for RPE65 Gene

mRNA/cDNA for RPE65 Gene

(1) 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:

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 for RPE65 Gene

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

This gene is overexpressed in Brain - Substantia nigra (13.0), Brain - Hypothalamus (10.0), and Brain - Spinal cord (cervical c-1) (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RPE65 Gene

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 expressions with RPE65: view

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 36
  • 95.68 (n)
  • 95.31 (a)
RPE65 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPE65 36
  • 95.06 (n)
  • 98.5 (a)
RPE65 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPE65 36
  • 91.37 (n)
  • 98.5 (a)
RPE65 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rpe65 36
  • 89.93 (n)
  • 93.62 (a)
Rpe65 16
Rpe65 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RPE65 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPE65 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rpe65 36
  • 89.41 (n)
  • 94.36 (a)
chicken
(Gallus gallus)
Aves RPE65 36
  • 79.24 (n)
  • 90.06 (a)
RPE65 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPE65 37
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia rpe65-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia rpe65 36
  • 75.55 (n)
  • 81.61 (a)
Str.5401 36
zebrafish
(Danio rerio)
Actinopterygii rpe65a 37
  • 74 (a)
OneToMany
rpe65b 37
  • 75 (a)
OneToMany
rpe65c 36
  • 69.93 (n)
  • 75.89 (a)
rpe65c 37
  • 76 (a)
OneToMany
zgc73213 36
fruit fly
(Drosophila melanogaster)
Insecta ninaB 37
  • 30 (a)
OneToMany
RPE65 38
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea bcmo-1 37
  • 33 (a)
ManyToMany
bcmo-2 37
  • 32 (a)
ManyToMany
Y46G5A.24 38
  • 33 (a)
F53C3.12 38
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
ManyToMany
-- 37
  • 35 (a)
ManyToMany
-- 37
  • 37 (a)
ManyToMany
-- 37
  • 33 (a)
ManyToMany
CSA.76 37
  • 37 (a)
ManyToMany
CSA.9604 37
  • 36 (a)
ManyToMany
Species with no ortholog for RPE65:
  • 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

Selected 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 MAF
rs382422 -- 68,450,440(+) ACAAA(C/G)TATTC upstream-variant-2KB, intron-variant
rs411362 -- 68,454,616(+) GTCTT(A/G)ATTTG upstream-variant-2KB
rs414020 -- 68,453,351(-) CAATG(C/T)AAAAA reference, stop-gained
rs429404 -- 68,454,898(+) TCTTC(A/G)GTGAG upstream-variant-2KB
rs436070 -- 68,453,212(+) TTCAC(C/T)TCCTG missense, reference

Relevant External Links for RPE65 Gene

HapMap Linkage Disequilibrium report
RPE65
Human Gene Mutation Database (HGMD)
RPE65
Locus Specific Mutation Databases (LSDB)
RPE65

No data available for Structural Variations from Database of Genomic Variants (DGV) for RPE65 Gene

Disorders for RPE65 Gene

(2) OMIM Diseases for RPE65 Gene (180069)

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.
  • 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.
  • 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}.

(4) University of Copenhagen DISEASES for RPE65 Gene

(14) Novoseek inferred disease relationships for RPE65 Gene

Disease -log(P) Hits PubMed IDs
lebers congenital amaurosis 98 49
retinal degeneration 82.4 16
retinitis pigmentosa 82.1 21
retinopathy 70.6 6
blindness 69.5 14

Relevant External Links for RPE65

GeneTests
RPE65
GeneReviews
RPE65
Genetic Association Database (GAD)
RPE65
Human Genome Epidemiology (HuGE) Navigator
RPE65
genes like me logo Genes that share disorders with RPE65: view

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 23 49
  2. Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. (PMID: 18484312) Mamatha G. … Kumaramanickavel G. (Ophthalmic Genet. 2008) 3 23 49
  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 23
  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 23 49
  5. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. (PMID: 9326941) Gu S.M. … Gal A. (Nat. Genet. 1997) 3 4 23

Products for RPE65 Gene

Sources for RPE65 Gene

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