Protein Information

Cytoscape View

UniProt AC / UniProt ID Q16518 / RPE65_HUMAN
Protein Name Retinoid isomerohydrolase
Gene Name Name: RPE65
Organism Homo sapiens (Human)

PRO ID PR:Q16518
DAG View
PRO Name retinoid isomerohydrolase (human)
Definition A retinal pigment epithelium-specific 65 kDa protein that is encoded in the genome of human.
Short Label hRPE65
Category organism-gene

Interactive Sequence View

Select/align proteoforms across species

Q16518 (RPE65) as Substrate

Site PTM Type PTM Enzyme Score Source PMID
T18 Phosphorylation PhosphoSitePlus
Y89 Phosphorylation PhosphoSitePlus
T101 Phosphorylation PhosphoSitePlus   UniProt 19049981
T105 Phosphorylation PhosphoSitePlus   UniProt 19049981
K113 Acetylation PhosphoSitePlus   UniProt 19049981
S117 Phosphorylation PhosphoSitePlus   UniProt 19049981
Y304 Phosphorylation PhosphoSitePlus
K376 Acetylation PhosphoSitePlus
T379 Phosphorylation PhosphoSitePlus

PTM sites affected in variants

Site Variant Source PMID Disease [Sample source]
T18 I18 Biomuta DOID:3571 / liver cancer [ icgc ] DOID:0070003 / blastoma [ cosmic ]
T18 N18 Biomuta DOID:3571 / liver cancer [ icgc ]
K113 N113 Biomuta DOID:5041 / esophageal cancer [ tcga ] DOID:11054 / urinary bladder cancer [ tcga ]
S117 Y117 Biomuta DOID:363 / uterine cancer [ tcga ]
K376 N376 Biomuta DOID:363 / uterine cancer [ tcga ]