• Gene id: 6121

Gene Summary

• Gene Symbol: RPE65   Gene   UCSC   Ensembl
• Aliases: BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65
• Gene name: retinoid isomerohydrolase RPE65
• Alternate names: retinoid isomerohydrolase, BCO family, member 3, RBP-binding membrane protein, RPE65, retinoid isomerohydrolase, all-trans-retinyl-palmitate hydrolase, lutein isomerase, meso-zeaxanthin isomerase, retinal pigment epithelium specific protein 65, retinal pigment ep,
• Gene location: 1p31.3 (68450321: 68428821)     Exons: 14     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All mem
• OMIM: 607244

Protein Summary

• Protein general information: Q16518  
  • Name: Retinoid isomerohydrolase (EC 3.1.1.64) (All trans retinyl palmitate hydrolase) (Lutein isomerase) (Meso zeaxanthin isomerase) (EC 5.3.3.22) (Retinal pigment epithelium specific 65 kDa protein) (Retinol isomerase)
  • Length: 533  
  • Mass: 60948
  • Tissue specificity: Retina (at protein level). Retinal pigment epithelium specific. {ECO
• Sequence:

  MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEG
  HVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETN
  FITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEI
  VVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYL
  NNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNID
  KADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKL
  NVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVT
  FHGLFKKS

• Structural information:
  • Interpro: IPR004294  
  • STRING: ENSP00000262340
• Other Databases: GeneCards:  RPE65  Malacards:  RPE65

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042574	retinal metabolic process	IBA	biological process
GO:0050251	retinol isomerase activity	IBA	molecular function
GO:0004744	retinal isomerase activity	IBA	molecular function
GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IBA	molecular function
GO:1901827	zeaxanthin biosynthetic process	IBA	biological process
GO:1901827	zeaxanthin biosynthetic process	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0016853	isomerase activity	IDA	molecular function
GO:0001523	retinoid metabolic process	IDA	biological process
GO:0052884	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	IDA	molecular function
GO:0004744	retinal isomerase activity	ISS	molecular function
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006776	vitamin A metabolic process	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0052884	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	IEA	molecular function
GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IEA	molecular function
GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	ISS	molecular function
GO:1901612	cardiolipin binding	ISS	molecular function
GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	ISS	molecular function
GO:0031210	phosphatidylcholine binding	ISS	molecular function
GO:0001786	phosphatidylserine binding	ISS	molecular function
GO:0016020	membrane	ISS	cellular component
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0052884	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	TAS	molecular function
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007468	regulation of rhodopsin gene expression	IEA	biological process
GO:0004744	retinal isomerase activity	IEA	molecular function
GO:0052885	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IEA	molecular function
GO:0044297	cell body	IEA	cellular component
GO:0043010	camera-type eye development	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0003407	neural retina development	IEA	biological process
GO:0071257	cellular response to electrical stimulus	IEA	biological process
GO:0060042	retina morphogenesis in camera-type eye	IEA	biological process
GO:0042574	retinal metabolic process	IEA	biological process
GO:0042574	retinal metabolic process	IEA	biological process
GO:0009416	response to light stimulus	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0031090	organelle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001895	retina homeostasis	IMP	biological process
GO:0050908	detection of light stimulus involved in visual perception	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Leber congenital amaurosis	KEGG:H00837
Retinitis pigmentosa	KEGG:H00527
Leber congenital amaurosis	KEGG:H00837
Leber congenital amaurosis 2	PMID:16505056
Retinitis pigmentosa	PMID:21654732
Squamous cell carcinoma	PMID:16181461
basal cell carcinoma	PMID:16181461
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R