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Q16518

- RPE65_HUMAN

UniProt

Q16518 - RPE65_HUMAN

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Protein
Retinoid isomerohydrolase
Gene
RPE65
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT. The enzymatic activity is linearly dependent of the expression levels and membrane association.2 Publications

Catalytic activityi

An all-trans-retinyl ester + H2O = 11-cis-retinol + a fatty acid.

Cofactori

Binds 1 Fe2+ ion per subunit By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi180 – 1801Iron; catalytic By similarity
Metal bindingi241 – 2411Iron; catalytic By similarity
Metal bindingi313 – 3131Iron; catalytic By similarity
Metal bindingi527 – 5271Iron; catalytic By similarity

GO - Molecular functioni

  1. all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity Source: UniProtKB-EC
  2. all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity Source: UniProtKB-EC
  3. metal ion binding Source: UniProtKB-KW
  4. retinal isomerase activity Source: Ensembl

GO - Biological processi

  1. cellular response to electrical stimulus Source: Ensembl
  2. detection of light stimulus involved in visual perception Source: UniProt
  3. insulin receptor signaling pathway Source: Ensembl
  4. phototransduction, visible light Source: Reactome
  5. regulation of rhodopsin gene expression Source: Ensembl
  6. retina homeostasis Source: UniProt
  7. retina morphogenesis in camera-type eye Source: Ensembl
  8. retinal metabolic process Source: Ensembl
  9. retinoid metabolic process Source: Reactome
  10. visual perception Source: ProtInc
  11. vitamin A metabolic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Isomerase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000116745-MONOMER.
ReactomeiREACT_160156. The canonical retinoid cycle in rods (twilight vision).

Names & Taxonomyi

Protein namesi
Recommended name:
Retinoid isomerohydrolase (EC:3.1.1.64)
Alternative name(s):
All-trans-retinyl-palmitate hydrolase
Retinal pigment epithelium-specific 65 kDa protein
Retinol isomerase
Gene namesi
Name:RPE65
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:10294. RPE65.

Subcellular locationi

Cytoplasm By similarity. Cell membrane; Lipid-anchor By similarity. Microsome membrane By similarity
Note: Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated By similarity. Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells.1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. organelle membrane Source: UniProtKB-SubCell
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 2 (LCA2) [MIM:204100]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Note: The disease is caused by mutations affecting the gene represented in this entry.12 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221L → P in LCA2. 2 Publications
VAR_017126
Natural varianti36 – 383Missing in LCA2.
VAR_060808
Natural varianti40 – 401G → S in LCA2. 2 Publications
VAR_017127
Natural varianti44 – 441R → Q in LCA2. 2 Publications
VAR_017128
Natural varianti67 – 671L → R Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 Publication
VAR_070172
Natural varianti68 – 681H → Y in LCA2. 1 Publication
VAR_017129
Natural varianti70 – 701F → V in LCA2 and RP20. 2 Publications
VAR_067160
Natural varianti91 – 911R → P in LCA2. 1 Publication
VAR_067161
Natural varianti91 – 911R → Q in LCA2. 1 Publication
VAR_017131
Natural varianti99 – 991V → I Found in a patient with LCA2; uncertain pathological significance. 1 Publication
VAR_067162
Natural varianti102 – 1021E → K in RP20 and LCA2. 2 Publications
VAR_060812
Natural varianti144 – 1441Y → D in LCA2. 2 Publications
VAR_017133
Natural varianti148 – 1481E → D in LCA2. 1 Publication
VAR_060813
Natural varianti167 – 1671D → Y in RP20 and LCA2. 2 Publications
VAR_060814
Natural varianti182 – 1821H → N in LCA2. 1 Publication
VAR_060815
Natural varianti182 – 1821H → Y in LCA2. 2 Publications
VAR_017134
Natural varianti239 – 2391Y → D in LCA2 and RP20. 2 Publications
VAR_060816
Natural varianti287 – 2871V → F in LCA2. 1 Publication
VAR_017135
Natural varianti313 – 3131H → R in LCA2. 1 Publication
VAR_067163
Natural varianti321 – 3211N → K in LCA2. 2 Publications
Corresponds to variant rs149916178 [ dbSNP | Ensembl ].
VAR_017136
Natural varianti330 – 3301C → Y in LCA2. 2 Publications
VAR_060818
Natural varianti333 – 3331G → R Found in a patient with LCA2. 1 Publication
VAR_067164
Natural varianti363 – 3631P → T in LCA2. 3 Publications
VAR_017138
Natural varianti368 – 3681Y → C Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 Publication
VAR_070173
Natural varianti393 – 3931A → E in LCA2. 1 Publication
VAR_060819
Natural varianti393 – 3931A → G in LCA2. 1 Publication
VAR_017140
Natural varianti417 – 4171E → Q in LCA2. 1 Publication
VAR_017141
Natural varianti431 – 4311Y → C in LCA2. 1 Publication
VAR_018151
Natural varianti434 – 4341A → V in LCA2. 2 Publications
Corresponds to variant rs34627040 [ dbSNP | Ensembl ].
VAR_034477
Natural varianti435 – 4351Y → C in LCA2. 1 Publication
VAR_060820
Natural varianti470 – 4701P → L in LCA2. 1 Publication
VAR_060822
Natural varianti515 – 5151R → W in RP20; this mutation has been found in compound heterozygosity in LCA2. 1 Publication
VAR_037619
Retinitis pigmentosa 20 (RP20) [MIM:613794]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti70 – 701F → V in LCA2 and RP20. 2 Publications
VAR_067160
Natural varianti79 – 791Y → H in RP20. 1 Publication
VAR_060809
Natural varianti85 – 851R → H in RP20; uncertain pathological significance. 1 Publication
VAR_060810
Natural varianti91 – 911R → W in RP20. 5 Publications
VAR_017130
Natural varianti95 – 951E → Q in RP20. 1 Publication
VAR_060811
Natural varianti102 – 1021E → K in RP20 and LCA2. 2 Publications
VAR_060812
Natural varianti132 – 1321A → T in RP20. 2 Publications
VAR_017132
Natural varianti167 – 1671D → Y in RP20 and LCA2. 2 Publications
VAR_060814
Natural varianti239 – 2391Y → D in LCA2 and RP20. 2 Publications
VAR_060816
Natural varianti294 – 2941K → T in RP20. 1 Publication
Corresponds to variant rs61752901 [ dbSNP | Ensembl ].
VAR_060817
Natural varianti341 – 3411L → S in RP20. 1 Publication
VAR_017137
Natural varianti368 – 3681Y → H in RP20. 2 Publications
VAR_017139
Natural varianti436 – 4361G → V in RP20. 1 Publication
VAR_060821
Natural varianti452 – 4521V → G in RP20. 1 Publication
VAR_017142
Natural varianti473 – 4731V → D in RP20. 3 Publications
VAR_060823
Natural varianti515 – 5151R → W in RP20; this mutation has been found in compound heterozygosity in LCA2. 1 Publication
VAR_037619
Natural varianti528 – 5281G → V in RP20. 1 Publication
VAR_060824
Defects in RPE65 are a cause of autosomal dominant retinitis pigmentosa with choroidal involvement (1 Publication). Affected individuals show reduction of central vision, constriction of visual fields, night blindness and chorioretinal atrophy.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi106 – 1061C → A: Membrane associated. 1 Publication
Mutagenesisi112 – 1121C → A: Loss of enzymatic activity. No palmitoylation. Loss of membrane association. 1 Publication
Mutagenesisi180 – 1801H → A: Loss of enzymatic activity. 1 Publication
Mutagenesisi241 – 2411H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication
Mutagenesisi313 – 3131H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication
Mutagenesisi469 – 4691E → A: Decreasing protein levels. Loss of enzymatic activity. 1 Publication
Mutagenesisi469 – 4691E → Q: Decreasing protein levels. Loss of enzymatic activity. 1 Publication
Mutagenesisi527 – 5271H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

MIMi204100. phenotype.
613794. phenotype.
Orphaneti180. Choroideremia.
65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBiPA34655.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 533532Retinoid isomerohydrolase
PRO_0000143943Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine By similarity
Modified residuei101 – 1011Phosphothreonine1 Publication
Modified residuei105 – 1051Phosphothreonine1 Publication
Lipidationi112 – 1121S-palmitoyl cysteine; in membrane form1 Publication
Modified residuei113 – 1131N6-acetyllysine1 Publication
Modified residuei117 – 1171Phosphoserine1 Publication
Lipidationi231 – 2311S-palmitoyl cysteine; in membrane form By similarity
Lipidationi329 – 3291S-palmitoyl cysteine; in membrane form By similarity
Lipidationi330 – 3301S-palmitoyl cysteine; in membrane form By similarity

Post-translational modificationi

Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A) By similarity.1 Publication

Keywords - PTMi

Acetylation, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

PaxDbiQ16518.
PRIDEiQ16518.

PTM databases

PhosphoSiteiQ16518.

Expressioni

Tissue specificityi

Retinal pigment epithelium specific.1 Publication

Gene expression databases

BgeeiQ16518.
CleanExiHS_RPE65.
GenevestigatoriQ16518.

Interactioni

Subunit structurei

Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.1 Publication

Protein-protein interaction databases

BioGridi112041. 2 interactions.
STRINGi9606.ENSP00000262340.

Structurei

3D structure databases

ProteinModelPortaliQ16518.
SMRiQ16518. Positions 4-533.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG3670.
HOGENOMiHOG000232156.
HOVERGENiHBG050679.
InParanoidiQ16518.
KOiK11158.
OMAiTIREPSV.
OrthoDBiEOG7353WB.
PhylomeDBiQ16518.
TreeFamiTF314019.

Family and domain databases

InterProiIPR004294. Carotenoid_Oase.
[Graphical view]
PANTHERiPTHR10543. PTHR10543. 1 hit.
PfamiPF03055. RPE65. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q16518-1 [UniParc]FASTAAdd to Basket

« Hide

MSIQVEHPAG GYKKLFETVE ELSSPLTAHV TGRIPLWLTG SLLRCGPGLF    50
EVGSEPFYHL FDGQALLHKF DFKEGHVTYH RRFIRTDAYV RAMTEKRIVI 100
TEFGTCAFPD PCKNIFSRFF SYFRGVEVTD NALVNVYPVG EDYYACTETN 150
FITKINPETL ETIKQVDLCN YVSVNGATAH PHIENDGTVY NIGNCFGKNF 200
SIAYNIVKIP PLQADKEDPI SKSEIVVQFP CSDRFKPSYV HSFGLTPNYI 250
VFVETPVKIN LFKFLSSWSL WGANYMDCFE SNETMGVWLH IADKKRKKYL 300
NNKYRTSPFN LFHHINTYED NGFLIVDLCC WKGFEFVYNY LYLANLRENW 350
EEVKKNARKA PQPEVRRYVL PLNIDKADTG KNLVTLPNTT ATAILCSDET 400
IWLEPEVLFS GPRQAFEFPQ INYQKYCGKP YTYAYGLGLN HFVPDRLCKL 450
NVKTKETWVW QEPDSYPSEP IFVSHPDALE EDDGVVLSVV VSPGAGQKPA 500
YLLILNAKDL SEVARAEVEI NIPVTFHGLF KKS 533
Length:533
Mass (Da):60,948
Last modified:January 23, 2007 - v3
Checksum:i7193C93F3325798D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221L → P in LCA2. 2 Publications
VAR_017126
Natural varianti36 – 383Missing in LCA2.
VAR_060808
Natural varianti40 – 401G → S in LCA2. 2 Publications
VAR_017127
Natural varianti44 – 441R → Q in LCA2. 2 Publications
VAR_017128
Natural varianti67 – 671L → R Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 Publication
VAR_070172
Natural varianti68 – 681H → Y in LCA2. 1 Publication
VAR_017129
Natural varianti70 – 701F → V in LCA2 and RP20. 2 Publications
VAR_067160
Natural varianti79 – 791Y → H in RP20. 1 Publication
VAR_060809
Natural varianti85 – 851R → H in RP20; uncertain pathological significance. 1 Publication
VAR_060810
Natural varianti91 – 911R → P in LCA2. 1 Publication
VAR_067161
Natural varianti91 – 911R → Q in LCA2. 1 Publication
VAR_017131
Natural varianti91 – 911R → W in RP20. 5 Publications
VAR_017130
Natural varianti95 – 951E → Q in RP20. 1 Publication
VAR_060811
Natural varianti99 – 991V → I Found in a patient with LCA2; uncertain pathological significance. 1 Publication
VAR_067162
Natural varianti102 – 1021E → K in RP20 and LCA2. 2 Publications
VAR_060812
Natural varianti132 – 1321A → T in RP20. 2 Publications
VAR_017132
Natural varianti144 – 1441Y → D in LCA2. 2 Publications
VAR_017133
Natural varianti148 – 1481E → D in LCA2. 1 Publication
VAR_060813
Natural varianti167 – 1671D → Y in RP20 and LCA2. 2 Publications
VAR_060814
Natural varianti182 – 1821H → N in LCA2. 1 Publication
VAR_060815
Natural varianti182 – 1821H → Y in LCA2. 2 Publications
VAR_017134
Natural varianti239 – 2391Y → D in LCA2 and RP20. 2 Publications
VAR_060816
Natural varianti287 – 2871V → F in LCA2. 1 Publication
VAR_017135
Natural varianti294 – 2941K → T in RP20. 1 Publication
Corresponds to variant rs61752901 [ dbSNP | Ensembl ].
VAR_060817
Natural varianti313 – 3131H → R in LCA2. 1 Publication
VAR_067163
Natural varianti321 – 3211N → K in LCA2. 2 Publications
Corresponds to variant rs149916178 [ dbSNP | Ensembl ].
VAR_017136
Natural varianti330 – 3301C → Y in LCA2. 2 Publications
VAR_060818
Natural varianti333 – 3331G → R Found in a patient with LCA2. 1 Publication
VAR_067164
Natural varianti341 – 3411L → S in RP20. 1 Publication
VAR_017137
Natural varianti363 – 3631P → T in LCA2. 3 Publications
VAR_017138
Natural varianti368 – 3681Y → C Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 Publication
VAR_070173
Natural varianti368 – 3681Y → H in RP20. 2 Publications
VAR_017139
Natural varianti393 – 3931A → E in LCA2. 1 Publication
VAR_060819
Natural varianti393 – 3931A → G in LCA2. 1 Publication
VAR_017140
Natural varianti417 – 4171E → Q in LCA2. 1 Publication
VAR_017141
Natural varianti431 – 4311Y → C in LCA2. 1 Publication
VAR_018151
Natural varianti434 – 4341A → V in LCA2. 2 Publications
Corresponds to variant rs34627040 [ dbSNP | Ensembl ].
VAR_034477
Natural varianti435 – 4351Y → C in LCA2. 1 Publication
VAR_060820
Natural varianti436 – 4361G → V in RP20. 1 Publication
VAR_060821
Natural varianti452 – 4521V → G in RP20. 1 Publication
VAR_017142
Natural varianti470 – 4701P → L in LCA2. 1 Publication
VAR_060822
Natural varianti473 – 4731V → D in RP20. 3 Publications
VAR_060823
Natural varianti477 – 4771D → G Probable disease-associated mutation found in autosomal dominant retinitis pigmentosa with choroidal involvement. 1 Publication
VAR_067757
Natural varianti515 – 5151R → W in RP20; this mutation has been found in compound heterozygosity in LCA2. 1 Publication
VAR_037619
Natural varianti528 – 5281G → V in RP20. 1 Publication
VAR_060824

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti254 – 2541E → G in BAF82614. 1 Publication
Sequence conflicti274 – 2741N → D in BAF82614. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U18991 mRNA. Translation: AAA99012.1.
U20510
, U20476, U20477, U20478, U20479, U20481, U20482, U20484, U20485, U20486 Genomic DNA. Translation: AAC14586.1.
AF039868
, AF039855, AF039856, AF039857, AF039858, AF039859, AF039860, AF039861, AF039862, AF039863, AF039864, AF039865, AF039866, AF039867 Genomic DNA. Translation: AAC39660.1.
AK289925 mRNA. Translation: BAF82614.1.
AL139413 Genomic DNA. Translation: CAI18957.1.
CH471059 Genomic DNA. Translation: EAX06478.1.
BC075035 mRNA. Translation: AAH75035.1.
BC075036 mRNA. Translation: AAH75036.1.
CCDSiCCDS643.1.
RefSeqiNP_000320.1. NM_000329.2.
UniGeneiHs.2133.

Genome annotation databases

EnsembliENST00000262340; ENSP00000262340; ENSG00000116745.
GeneIDi6121.
KEGGihsa:6121.
UCSCiuc001dei.1. human.

Polymorphism databases

DMDMi44888872.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the RPE65 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U18991 mRNA. Translation: AAA99012.1 .
U20510
, U20476 , U20477 , U20478 , U20479 , U20481 , U20482 , U20484 , U20485 , U20486 Genomic DNA. Translation: AAC14586.1 .
AF039868
, AF039855 , AF039856 , AF039857 , AF039858 , AF039859 , AF039860 , AF039861 , AF039862 , AF039863 , AF039864 , AF039865 , AF039866 , AF039867 Genomic DNA. Translation: AAC39660.1 .
AK289925 mRNA. Translation: BAF82614.1 .
AL139413 Genomic DNA. Translation: CAI18957.1 .
CH471059 Genomic DNA. Translation: EAX06478.1 .
BC075035 mRNA. Translation: AAH75035.1 .
BC075036 mRNA. Translation: AAH75036.1 .
CCDSi CCDS643.1.
RefSeqi NP_000320.1. NM_000329.2.
UniGenei Hs.2133.

3D structure databases

ProteinModelPortali Q16518.
SMRi Q16518. Positions 4-533.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112041. 2 interactions.
STRINGi 9606.ENSP00000262340.

PTM databases

PhosphoSitei Q16518.

Polymorphism databases

DMDMi 44888872.

Proteomic databases

PaxDbi Q16518.
PRIDEi Q16518.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262340 ; ENSP00000262340 ; ENSG00000116745 .
GeneIDi 6121.
KEGGi hsa:6121.
UCSCi uc001dei.1. human.

Organism-specific databases

CTDi 6121.
GeneCardsi GC01M068894.
GeneReviewsi RPE65.
HGNCi HGNC:10294. RPE65.
MIMi 180069. gene.
204100. phenotype.
613794. phenotype.
neXtProti NX_Q16518.
Orphaneti 180. Choroideremia.
65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBi PA34655.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3670.
HOGENOMi HOG000232156.
HOVERGENi HBG050679.
InParanoidi Q16518.
KOi K11158.
OMAi TIREPSV.
OrthoDBi EOG7353WB.
PhylomeDBi Q16518.
TreeFami TF314019.

Enzyme and pathway databases

BioCyci MetaCyc:ENSG00000116745-MONOMER.
Reactomei REACT_160156. The canonical retinoid cycle in rods (twilight vision).

Miscellaneous databases

ChiTaRSi RPE65. human.
GeneWikii RPE65.
GenomeRNAii 6121.
NextBioi 23773.
PROi Q16518.
SOURCEi Search...

Gene expression databases

Bgeei Q16518.
CleanExi HS_RPE65.
Genevestigatori Q16518.

Family and domain databases

InterProi IPR004294. Carotenoid_Oase.
[Graphical view ]
PANTHERi PTHR10543. PTHR10543. 1 hit.
Pfami PF03055. RPE65. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium."
    Nicoletti A., Wong D.J., Kawase K., Gibson L.H., Yang-Feng T.L., Richards J.E., Thompson D.A.
    Hum. Mol. Genet. 4:641-649(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    Tissue: Retinal pigment epithelium.
  2. "Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis."
    Morimura H., Fishman G.A., Grover S.A., Fulton A.B., Berson E.L., Dryja T.P.
    Proc. Natl. Acad. Sci. U.S.A. 95:3088-3093(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS RP20 TRP-91; LYS-102; THR-132; SER-341; GLY-452 AND ASP-473.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Hippocampus.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Fetal brain.
  7. "Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65."
    Takahashi Y., Moiseyev G., Ablonczy Z., Chen Y., Crouch R.K., Ma J.X.
    J. Biol. Chem. 284:3211-3218(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 98-118, PHOSPHORYLATION AT THR-101; THR-105 AND SER-117, PALMITOYLATION AT CYS-112, MUTAGENESIS OF CYS-106 AND CYS-112, ACETYLATION AT LYS-113, IDENTIFICATION BY MASS SPECTROMETRY.
  8. "Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium."
    Takahashi Y., Moiseyev G., Chen Y., Ma J.X.
    FEBS Lett. 579:5414-5418(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF HIS-180; HIS-241; HIS-313; GLU-469 AND HIS-527.
  9. Cited for: FUNCTION.
  10. "The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65."
    Lopes V.S., Gibbs D., Libby R.T., Aleman T.S., Welch D.L., Lillo C., Jacobson S.G., Radu R.A., Steel K.P., Williams D.S.
    Hum. Mol. Genet. 20:2560-2570(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH MYO7A.
  11. "Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy."
    Gu S.M., Thompson D.A., Srikumari C.R., Lorenz B., Finckh U., Nicoletti A., Murthy K.R., Rathmann M., Kumaramanickavel G., Denton M.J., Gal A.
    Nat. Genet. 17:194-197(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LCA2 THR-363.
  12. "Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene."
    Marlhens F., Griffoin J.-M., Bareil C., Arnaud B., Claustres M., Hamel C.P.
    Eur. J. Hum. Genet. 6:527-531(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA2 PRO-22 AND TYR-68.
  13. "Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis."
    Perrault I., Rozet J.-M., Ghazi I., Leowski C., Bonnemaison M., Gerber S., Ducroq D., Cabot A., Souied E., Dufier J.-L., Munnich A., Kaplan J.
    Am. J. Hum. Genet. 64:1225-1228(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA2 TYR-330; THR-363 AND VAL-434.
  14. Cited for: VARIANTS LCA2 PHE-287; LYS-321 AND GLY-393.
  15. "Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration."
    Thompson D.A., Gyuerues P., Fleischer L.L., Bingham E.L., McHenry C.L., Apfelstedt-Sylla E., Zrenner E., Lorenz B., Richards J.E., Jacobson S.G., Sieving P.A., Gal A.
    Invest. Ophthalmol. Vis. Sci. 41:4293-4299(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP20 HIS-79; HIS-85; TRP-91; GLN-95; THR-132; TYR-167; THR-294; VAL-436 AND VAL-528.
  16. "Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis."
    Simovich M.J., Miller B., Ezzeldin H., Kirkland B.T., McLeod G., Fulmer C., Nathans J., Jacobson S.G., Pittler S.J.
    Hum. Mutat. 18:164-164(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA2 SER-40; GLN-44; GLN-91; ASP-144; TYR-182; LYS-321 AND GLN-417.
  17. "A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population."
    Yzer S., van den Born L.I., Schuil J., Kroes H.Y., van Genderen M.M., Boonstra F.N., van den Helm B., Brunner H.G., Koenekoop R.K., Cremers F.P.
    J. Med. Genet. 40:709-713(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP20 HIS-368.
  18. "Analysis of three genes in Leber congenital amaurosis in Indonesian patients."
    Sitorus R.S., Lorenz B., Preising M.N.
    Vision Res. 43:3087-3093(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA2 36-LEU--LEU-38 DEL AND CYS-435.
  19. "Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutations."
    Al-Khayer K., Hagstrom S., Pauer G., Zegarra H., Sears J., Traboulsi E.I.
    Am. J. Ophthalmol. 137:375-377(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LCA2 CYS-431.
  20. "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis."
    Hanein S., Perrault I., Gerber S., Tanguy G., Barbet F., Ducroq D., Calvas P., Dollfus H., Hamel C., Lopponen T., Munier F., Santos L., Shalev S., Zafeiriou D., Dufier J.-L., Munnich A., Rozet J.-M., Kaplan J.
    Hum. Mutat. 23:306-317(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA2 GLN-44; ASP-148; ASN-182; TYR-330; THR-363; VAL-434 AND ASP-473.
  21. "A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers."
    Kondo H., Qin M., Mizota A., Kondo M., Hayashi H., Hayashi K., Oshima K., Tahira T., Hayashi K.
    Invest. Ophthalmol. Vis. Sci. 45:4433-4439(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP20 TRP-515.
  22. "Evaluation of genotype-phenotype associations in Leber congenital amaurosis."
    Galvin J.A., Fishman G.A., Stone E.M., Koenekoop R.K.
    Retina 25:919-929(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA2 SER-40; TRP-91; TYR-182; ASP-239; GLU-393 AND ASP-473.
  23. "Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548."
    Gandra M., Sundaramurthy S., Kumaramanickavel G.
    Hum. Genet. 118:780-780(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LCA2 LEU-470.
  24. Cited for: VARIANTS LCA2 PRO-22; VAL-70; PRO-91; LYS-102; ASP-144; TYR-167 AND ARG-313.
  25. "Molecular characterization of Leber congenital amaurosis in Koreans."
    Seong M.W., Kim S.Y., Yu Y.S., Hwang J.M., Kim J.Y., Park S.S.
    Mol. Vis. 14:1429-1436(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LCA2 TRP-91.
  26. Cited for: VARIANT GLY-477, ROLE IN AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA WITH CHOROIDAL INVOLVEMENT.
  27. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
    Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
    PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-99 AND ARG-333.
  28. Cited for: VARIANTS RP20 VAL-70; TRP-91; ASP-239 AND HIS-368.
  29. "Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients."
    Xu F., Dong Q., Liu L., Li H., Liang X., Jiang R., Sui R., Dong F.
    Mol. Vis. 18:744-750(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-67 AND CYS-368.

Entry informationi

Entry nameiRPE65_HUMAN
AccessioniPrimary (citable) accession number: Q16518
Secondary accession number(s): A8K1L0, Q5T9U3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 122 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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