HUMAN:RPE65

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	RPE65
Protein Name(s)	Retinoid isomerohydrolase All-trans-retinyl-palmitate hydrolase Retinal pigment epithelium-specific 65 kDa protein Retinol isomerase
External Links
UniProt	Q16518
EMBL	U18991 U20510 U20476 U20477 U20478 U20479 U20481 U20482 U20484 U20485 U20486 AF039868 AF039855 AF039856 AF039857 AF039858 AF039859 AF039860 AF039861 AF039862 AF039863 AF039864 AF039865 AF039866 AF039867 AK289925 AL139413 CH471059 BC075035 BC075036
CCDS	CCDS643.1
RefSeq	NP_000320.1
UniGene	Hs.2133
ProteinModelPortal	Q16518
SMR	Q16518
BioGrid	112041
STRING	9606.ENSP00000262340
PhosphoSite	Q16518
DMDM	44888872
PaxDb	Q16518
PRIDE	Q16518
Ensembl	ENST00000262340
GeneID	6121
KEGG	hsa:6121
UCSC	uc001dei.1
CTD	6121
GeneCards	GC01M068894
GeneReviews	RPE65
HGNC	HGNC:10294
MIM	180069 204100 613794
neXtProt	NX_Q16518
Orphanet	180 65 791 364055
PharmGKB	PA34655
eggNOG	COG3670
GeneTree	ENSGT00500000044783
HOGENOM	HOG000232156
HOVERGEN	HBG050679
InParanoid	Q16518
KO	K11158
OMA	NTYEDHE
OrthoDB	EOG7353WB
PhylomeDB	Q16518
TreeFam	TF314019
BioCyc	MetaCyc:ENSG00000116745-MONOMER
Reactome	REACT_160156
ChiTaRS	RPE65
GeneWiki	RPE65
GenomeRNAi	6121
NextBio	23773
PRO	PR:Q16518
Proteomes	UP000005640
Bgee	Q16518
CleanEx	HS_RPE65
ExpressionAtlas	Q16518
Genevestigator	Q16518
GO	GO:0044297 GO:0005783 GO:0031090 GO:0005886 GO:0052885 GO:0052884 GO:0046872 GO:0004744 GO:0071257 GO:0050908 GO:0008286 GO:0007603 GO:0007468 GO:0001895 GO:0060042 GO:0042574 GO:0001523 GO:0007601 GO:0006776
InterPro	IPR004294
PANTHER	PTHR10543
Pfam	PF03055

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0001523	retinoid metabolic process	PMID:25112876^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0052884	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	PMID:25112876^[1]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	PMID:29659842^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0004744	retinal isomerase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q91ZQ5	F	Seeded From UniProt	complete
enables	GO:0016853	isomerase activity	PMID:28874556^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9YGX2	F	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q28175	C	Seeded From UniProt	complete
enables	GO:1901612	cardiolipin binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q28175	F	Seeded From UniProt	complete
enables	GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q28175	F	Seeded From UniProt	complete
enables	GO:0031210	phosphatidylcholine binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q28175	F	Seeded From UniProt	complete
enables	GO:0001786	phosphatidylserine binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q28175	F	Seeded From UniProt	complete
involved_in	GO:0050908	detection of light stimulus involved in visual perception	PMID:15557452^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001895	retina homeostasis	PMID:15557452^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:1901827	zeaxanthin biosynthetic process	PMID:28874556^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:1901827	zeaxanthin biosynthetic process	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN002576077 UniProtKB:Q16518 UniProtKB:Q9YGX2	P	Seeded From UniProt	complete
enables	GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN002576077 RGD:621396 UniProtKB:Q28175 UniProtKB:Q9YGX2	F	Seeded From UniProt	complete
enables	GO:0050251	retinol isomerase activity	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN002576077 UniProtKB:A9C3R8	F	Seeded From UniProt	complete
involved_in	GO:0042574	retinal metabolic process	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0002937 MGI:MGI:1926923 MGI:MGI:2177469 MGI:MGI:98001 PANTHER:PTN000057192 RGD:621396 UniProtKB:Q9I993	P	Seeded From UniProt	complete
enables	GO:0004744	retinal isomerase activity	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0002937 MGI:MGI:98001 PANTHER:PTN000830314 UniProtKB:Q28175	F	Seeded From UniProt	complete
enables	GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70276 ensembl:ENSRNOP00000069757	F	Seeded From UniProt	complete
part_of	GO:0044297	cell body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70276 ensembl:ENSRNOP00000069757	C	Seeded From UniProt	complete
involved_in	GO:0043010	camera-type eye development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70276 ensembl:ENSRNOP00000069757	P	Seeded From UniProt	complete
involved_in	GO:0042574	retinal metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70276 ensembl:ENSRNOP00000069757	P	Seeded From UniProt	complete
involved_in	GO:0042572	retinol metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70276 ensembl:ENSRNOP00000069757	P	Seeded From UniProt	complete
involved_in	GO:0009416	response to light stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70276 ensembl:ENSRNOP00000069757	P	Seeded From UniProt	complete
involved_in	GO:0007623	circadian rhythm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70276 ensembl:ENSRNOP00000069757	P	Seeded From UniProt	complete
involved_in	GO:0003407	neural retina development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O70276 ensembl:ENSRNOP00000069757	P	Seeded From UniProt	complete
involved_in	GO:0071257	cellular response to electrical stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91ZQ5 ensembl:ENSMUSP00000143654	P	Seeded From UniProt	complete
involved_in	GO:0060042	retina morphogenesis in camera-type eye	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91ZQ5 ensembl:ENSMUSP00000143654	P	Seeded From UniProt	complete
involved_in	GO:0060041	retina development in camera-type eye	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91ZQ5 ensembl:ENSMUSP00000143654	P	Seeded From UniProt	complete
involved_in	GO:0042574	retinal metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91ZQ5 ensembl:ENSMUSP00000143654	P	Seeded From UniProt	complete
involved_in	GO:0008286	insulin receptor signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91ZQ5 ensembl:ENSMUSP00000143654	P	Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91ZQ5 ensembl:ENSMUSP00000143654	P	Seeded From UniProt	complete
involved_in	GO:0007468	regulation of rhodopsin gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91ZQ5 ensembl:ENSMUSP00000143654	P	Seeded From UniProt	complete
enables	GO:0004744	retinal isomerase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q91ZQ5 ensembl:ENSMUSP00000143654	F	Seeded From UniProt	complete
enables	GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR004294	F	Seeded From UniProt	complete
involved_in	GO:0055114	oxidation-reduction process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR004294	P	Seeded From UniProt	complete
enables	GO:0052884	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.1.1.64	F	Seeded From UniProt	complete
enables	GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:3.1.1.64	F	Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	PMID:9326941^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006776	vitamin A metabolic process	PMID:9326941^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0052884	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	Reactome:R-HSA-2453833	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-2453833	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0001523	retinoid metabolic process	Reactome:R-HSA-2453902	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0844	P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C	Seeded From UniProt	complete
enables	GO:0016853	isomerase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0413	F	Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0256	C	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C	Seeded From UniProt	complete
part_of	GO:0043231	intracellular membrane-bounded organelle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0492	C	Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C	Seeded From UniProt	complete
involved_in	GO:0050896	response to stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0716	P	Seeded From UniProt	complete
part_of	GO:0031090	organelle membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0165	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Takahashi, Y et al. (2014) Identification of key residues determining isomerohydrolase activity of human RPE65. J. Biol. Chem. 289 26743-51 PubMed GONUTS page
↑ Choi, EH et al. (2018) Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. Hum. Mol. Genet. 27 2225-2243 PubMed GONUTS page
↑ ^3.0 ^3.1 Shyam, R et al. (2017) RPE65 has an additional function as the lutein to -zeaxanthin isomerase in the vertebrate eye. Proc. Natl. Acad. Sci. U.S.A. 114 10882-10887 PubMed GONUTS page
↑ ^4.0 ^4.1 Kondo, H et al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest. Ophthalmol. Vis. Sci. 45 4433-9 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^6.0 ^6.1 Gu, SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17 194-7 PubMed GONUTS page

[PMID:25112876-1] 1.0 ^1.1 Takahashi, Y et al. (2014) Identification of key residues determining isomerohydrolase activity of human RPE65. J. Biol. Chem. 289 26743-51 PubMed GONUTS page

[PMID:29659842-2] Choi, EH et al. (2018) Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. Hum. Mol. Genet. 27 2225-2243 PubMed GONUTS page

[PMID:28874556-3] 3.0 ^3.1 Shyam, R et al. (2017) RPE65 has an additional function as the lutein to -zeaxanthin isomerase in the vertebrate eye. Proc. Natl. Acad. Sci. U.S.A. 114 10882-10887 PubMed GONUTS page

[PMID:15557452-4] 4.0 ^4.1 Kondo, H et al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest. Ophthalmol. Vis. Sci. 45 4433-9 PubMed GONUTS page

[PMID:21873635-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:9326941-6] 6.0 ^6.1 Gu, SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17 194-7 PubMed GONUTS page

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HUMAN:RPE65

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