InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RPE65

Summary

InnateDB Protein

IDBP-99607.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RPE65

Protein Name

retinal pigment epithelium-specific protein 65kDa

Synonyms

BCO3; LCA2; mRPE65; rd12; RP20; sRPE65;

Species

Homo sapiens

Ensembl Protein

ENSP00000262340

InnateDB Gene

IDBG-99605 (RPE65)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16116091, ECO:0000269PubMed:21654732}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Microsome membrane {ECO:0000250}. 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:0000269PubMed:21493626}.

Disease Associations

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:0000269PubMed:10090910, ECO:0000269PubMed:10766140, ECO:0000269PubMed:11462243, ECO:0000269PubMed:14611946, ECO:0000269PubMed:14962443, ECO:0000269PubMed:15024725, ECO:0000269PubMed:16205573, ECO:0000269PubMed:17297704, ECO:0000269PubMed:17724218, ECO:0000269PubMed:18682808, ECO:0000269PubMed:9326941, ECO:0000269PubMed: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:0000269PubMed:11095629, ECO:0000269PubMed:12960219, ECO:0000269PubMed:15557452, ECO:0000269PubMed:22334370, ECO:0000269PubMed: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:0000269PubMed:21654732}.

Tissue Specificity

Retinal pigment epithelium specific. {ECO:0000269PubMed:21493626}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004744	retinal isomerase activity
GO:0046872	metal ion binding
GO:0052884	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0001895	retina homeostasis
GO:0006776	vitamin A metabolic process
GO:0007468	regulation of rhodopsin gene expression
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0008286	insulin receptor signaling pathway
GO:0042572	retinol metabolic process
GO:0042574	retinal metabolic process
GO:0050908	detection of light stimulus involved in visual perception
GO:0060041	retina development in camera-type eye
GO:0060042	retina morphogenesis in camera-type eye
GO:0071257	cellular response to electrical stimulus