Rpe65 | ENSMUSG00000028174 | NCBI 19892

Details for: Rpe65

Gene ID: 19892

Symbol: Rpe65

Ensembl ID: ENSMUSG00000028174

Description: retinal pigment epithelium 65

Associated with

Sensory perception
(R-MMU-9709957)
The canonical retinoid cycle in rods (twilight vision)
(R-MMU-2453902)
Visual phototransduction
(R-MMU-2187338)
All-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
(GO:0052885)
All-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
(GO:0052884)
Beta-carotene 15,15'-dioxygenase activity
(GO:0003834)
Cell body
(GO:0044297)
Cytoplasm
(GO:0005737)
Detection of light stimulus involved in visual perception
(GO:0050908)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum membrane
(GO:0005789)
Hydrolase activity
(GO:0016787)
Intracellular membrane-bounded organelle
(GO:0043231)
Isomerase activity
(GO:0016853)
Lipid metabolic process
(GO:0006629)
Membrane
(GO:0016020)
Metal ion binding
(GO:0046872)
Neural retina development
(GO:0003407)
Nucleus
(GO:0005634)
Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
(GO:0016702)
Plasma membrane
(GO:0005886)
Protein binding
(GO:0005515)
Response to stimulus
(GO:0050896)
Retina homeostasis
(GO:0001895)
Retinal metabolic process
(GO:0042574)
Retinoid metabolic process
(GO:0001523)
Retinol isomerase activity
(GO:0050251)
Retinol metabolic process
(GO:0042572)
Visual perception
(GO:0007601)
Zeaxanthin biosynthetic process
(GO:1901827)

Other Information

Proteins

Retinoid isomerohydrolase

Genular Protein ID: 2631407730

Symbol: RPE65_MOUSE

Name: Retinoid isomerohydrolase

UniProtKB Accession Codes:

Q91ZQ5 A1L3D1 E9QNS6 H9KUX9 Q8VHP2

Database IDs:

Citations:

PubMed ID: 15765048

Title: Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

PubMed ID: 15765048

PubMed ID: 19468303

Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.

PubMed ID: 19468303

DOI: 10.1371/journal.pbio.1000112

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11740468

Title: Sequence and structure of the mouse gene for RPE65.

PubMed ID: 11740468

PubMed ID: 9843205

Title: Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

PubMed ID: 9843205

DOI: 10.1038/3813

PubMed ID: 17251447

Title: RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice.

PubMed ID: 17251447

DOI: 10.1167/iovs.06-0652

PubMed ID: 28500718

Title: RPE65 and the accumulation of retinyl esters in mouse retinal pigment epithelium.

PubMed ID: 28500718

DOI: 10.1111/php.12738

PubMed ID: 11150319

Title: The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration.

PubMed ID: 11150319

DOI: 10.1523/jneurosci.21-01-00053.2001

PubMed ID: 23407971

Title: Fatty acid transport protein 4 (FATP4) prevents light-induced degeneration of cone and rod photoreceptors by inhibiting RPE65 isomerase.

PubMed ID: 23407971

DOI: 10.1523/jneurosci.2428-12.2013

PubMed ID: 29659842

Title: Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.

PubMed ID: 29659842

DOI: 10.1093/hmg/ddy128

PubMed ID: 30628748

Title: Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.

PubMed ID: 30628748

DOI: 10.1002/humu.23706

Sequence Information:

Length: 533
Mass: 61085
Checksum: BBDA3EBDF5B7A5E2
Sequence:

MSIQIEHPAG GYKKLFETVE ELSSPLTAHV TGRIPLWLTG SLLRCGPGLF EVGSEPFYHL 
FDGQALLHKF DFKEGHVTYH RRFIRTDAYV RAMTEKRIVI TEFGTCAFPD PCKNIFSRFF 
SYFKGVEVTD NALVNIYPVG EDYYACTETN FITKINPETL ETIKQVDLCN YISVNGATAH 
PHIESDGTVY NIGNCFGKNF TVAYNIIKIP PLKADKEDPI NKSEVVVQFP CSDRFKPSYV 
HSFGLTPNYI VFVETPVKIN LFKFLSSWSL WGANYMDCFE SNESMGVWLH VADKKRRKYF 
NNKYRTSPFN LFHHINTYED NGFLIVDLCC WKGFEFVYNY LYLANLRENW EEVKRNAMKA 
PQPEVRRYVL PLTIDKVDTG RNLVTLPHTT ATATLRSDET IWLEPEVLFS GPRQAFEFPQ 
INYQKFGGKP YTYAYGLGLN HFVPDKLCKM NVKTKEIWMW QEPDSYPSEP IFVSQPDALE 
EDDGVVLSVV VSPGAGQKPA YLLVLNAKDL SEIARAEVET NIPVTFHGLF KRS

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: Rpe65

Associated with

Other Information

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). PubMed ID: 15765048

Lineage-specific biology revealed by a finished genome assembly of the mouse. PubMed ID: 19468303

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Sequence and structure of the mouse gene for RPE65. PubMed ID: 11740468

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. PubMed ID: 9843205

RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice. PubMed ID: 17251447

RPE65 and the accumulation of retinyl esters in mouse retinal pigment epithelium. PubMed ID: 28500718

The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration. PubMed ID: 11150319

Fatty acid transport protein 4 (FATP4) prevents light-induced degeneration of cone and rod photoreceptors by inhibiting RPE65 isomerase. PubMed ID: 23407971

Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. PubMed ID: 29659842

Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A&gt;G human RPE65 mutation. PubMed ID: 30628748