Details for: Rpe65
Associated with
Other Information
Genular Protein ID: 2631407730
Symbol: RPE65_MOUSE
Name: Retinoid isomerohydrolase
UniProtKB Accession Codes:
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
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
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
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
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.