InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: RPE65

Summary

InnateDB Gene

IDBG-99605.6

Last Modified

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

Gene Symbol

RPE65

Gene Name

retinal pigment epithelium-specific protein 65kDa

Synonyms

BCO3; LCA2; mRPE65; rd12; RP20; sRPE65

Species

Homo sapiens

Ensembl Gene

ENSG00000116745

Encoded Proteins

IDBP-99607

retinal pigment epithelium-specific protein 65kDa

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:68428822-68449959

Strand

Reverse strand

Band

p31.3

Transcripts

ENST00000262340

ENSP00000262340

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

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005886	plasma membrane
GO:0031090	organelle membrane
GO:0044297	cell body

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028174

View Gene Order

ENSBTAG00000020494

Not yet available

Pathways

NETPATH

REACTOME

REACT_160156

The canonical retinoid cycle in rods (twilight vision) pathway

REACT_111102

Signal Transduction pathway

REACT_160102

Diseases associated with visual transduction pathway

REACT_160125

Visual phototransduction pathway

REACT_116125

Disease pathway

KEGG

hsa00830

Retinol metabolism pathway

INOH

PID NCI

cone_pathway

Visual signal transduction: Cones

rhodopsin_pathway

Visual signal transduction: Rods

Cross-References

SwissProt

Q16518

TrEMBL

C7FEP0 Q2EKB8

UniProt Splice Variant

Entrez Gene

6121

UniGene

Hs.2133

RefSeq

NM_000329 XM_006710811

HUGO

HGNC:10294

OMIM

180069

CCDS

CCDS643

HPRD

IMGT

EMBL

AF039855 AF039856 AF039857 AF039858 AF039859 AF039860 AF039861 AF039862 AF039863 AF039864 AF039865 AF039866 AF039867 AF039868 AK289925 AL139413 BC075035 BC075036 CH471059 DQ374435 GQ352640 U18991 U20476 U20477 U20478 U20479 U20481 U20482 U20484 U20485 U20486 U20510

GenPept

AAA99012 AAC14586 AAC39660 AAH75035 AAH75036 ABD37636 ACT83679 BAF82614 CAI18957 EAX06478

RNA Seq Atlas

6121