Property Summary

NCBI Gene PubMed Count 77
Grant Count 219
R01 Count 145
Funding $64,257,909.89
PubMed Score 537.21
PubTator Score 263.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma 2.700 0.001
posterior fossa group B ependymoma 2.700 0.000
glioblastoma 1.200 0.021
adult high grade glioma 2.100 0.000
psoriasis -1.600 0.000
facioscapulohumeral dystrophy 2.400 0.000

Synonym

Accession Q16518 A8K1L0 Q5T9U3
Symbols BCO3
LCA2
RP20
rd12
mRPE65
sRPE65

Gene

PANTHER Protein Class (2)

Gene RIF (60)

PMID Text
26427455 Data show that 4-phenylbutyrate (PBA) displayed a significant synergistic effect on the low temperature-mediated rescue of the mutant isomerase activity of RPE65.
26427430 Studies indicate that patients with retinol isomerase RPE65R91W mutation have useful cone-mediated vision in the first decade of life, suggesting partial activity of the mutant RPE65R91W protein.
26392743 Influx of T lymphocytes was associated with retinal pigment epithelium and choroidal thinning and diminished expression of RPE65 mRNA, an essential enzyme of the visual cycle.
26364624 Expressions of MDSC, FOXP3+TILs, and CTLA-4 are relative stable after nCRT
25972377 These data also help define minimal requirements of chromophore for photoreceptor survival in vivo and may be useful in assessing a beneficial therapeutic dose for RPE65 gene therapy in humans.
25752820 three Leber congenital amaurosis -associated RPE65 mutants (R91W, Y249C and R515W) undergo rapid proteasomal degradation mediated by the 26 S proteasome non-ATPase regulatory subunit 13.
25351180 We showed that miR-410 directly regulates predicted target genes OTX2 and RPE65.
25286304 Studies indicate that patients consistently reported improvement in their vision following delivery of recombinant adenoassociated virus (rAAV) that carried retinal pigment epithelium 65 protein (REP65) gene.
25257057 All RPE65-mutant observers have consistent and substantial losses in temporal acuity and sensitivity compared with normal observers.
25112876 when an amino-terminal fragment (Met(1)-Arg(33)) of the N170K/K297G double mutant of hRPE65 was replaced with the corresponding cRPE65 fragment, the isomerohydrolase activity was further increased to a level similar to that of cRPE65.
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AA Sequence

MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKF      1 - 70
DFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVG     71 - 140
EDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIP    141 - 210
PLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFE    211 - 280
SNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENW    281 - 350
EEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQ    351 - 420
INYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVV    421 - 490
VSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS                               491 - 533
//

Text Mined References (87)

PMID Year Title
26427455 2016 Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.
26427430 2016 The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors.
26392743 2015 Thinning of the RPE and choroid associated with T lymphocyte recruitment in aged and light-challenged mice.
26364624 2015 Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial.
25972377 2015 Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage.
25752820 2015 Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.
25351180 2015 miR-410 Inhibition Induces RPE Differentiation of Amniotic Epithelial Stem Cells via Overexpression of OTX2 and RPE65.
25286304 2014 Gene therapy for eye as regenerative medicine? Lessons from RPE65 gene therapy for Leber's Congenital Amaurosis.
25257057 2014 Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.
25112876 2014 Identification of key residues determining isomerohydrolase activity of human RPE65.
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