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Protein

Retinoid isomerohydrolase

Gene

RPE65

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Fe2+By similarityNote: Binds 1 Fe2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi180Iron; catalyticBy similarity1
Metal bindingi241Iron; catalyticBy similarity1
Metal bindingi313Iron; catalyticBy similarity1
Metal bindingi527Iron; catalyticBy similarity1

GO - Molecular functioni

GO - Biological processi

  • cellular response to electrical stimulus Source: Ensembl
  • circadian rhythm Source: Ensembl
  • detection of light stimulus involved in visual perception Source: UniProtKB
  • insulin receptor signaling pathway Source: Ensembl
  • neural retina development Source: Ensembl
  • regulation of rhodopsin gene expression Source: Ensembl
  • retina homeostasis Source: UniProtKB
  • retinal metabolic process Source: Ensembl
  • retina morphogenesis in camera-type eye Source: Ensembl
  • retinoid metabolic process Source: Reactome
  • visual perception Source: ProtInc
  • 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.
ZFISH:ENSG00000116745-MONOMER.
ReactomeiR-HSA-2453902. The canonical retinoid cycle in rods (twilight vision).

Chemistry databases

SwissLipidsiSLP:000000687.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:10294. RPE65.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 2 (LCA2)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:204100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01712622L → P in LCA2. 2 PublicationsCorresponds to variant rs61751277dbSNPEnsembl.1
Natural variantiVAR_06080836 – 38Missing in LCA2. 1 Publication3
Natural variantiVAR_01712740G → S in LCA2. 2 PublicationsCorresponds to variant rs61751281dbSNPEnsembl.1
Natural variantiVAR_01712844R → Q in LCA2. 2 PublicationsCorresponds to variant rs61751282dbSNPEnsembl.1
Natural variantiVAR_07017267L → R Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 Publication1
Natural variantiVAR_01712968H → Y in LCA2. 1 PublicationCorresponds to variant rs61752866dbSNPEnsembl.1
Natural variantiVAR_06716070F → V in LCA2 and RP20. 2 Publications1
Natural variantiVAR_06716191R → P in LCA2. 1 PublicationCorresponds to variant rs61752873dbSNPEnsembl.1
Natural variantiVAR_01713191R → Q in LCA2. 1 PublicationCorresponds to variant rs61752873dbSNPEnsembl.1
Natural variantiVAR_06716299V → I Found in a patient with LCA2; uncertain pathological significance. 1 PublicationCorresponds to variant rs143056561dbSNPEnsembl.1
Natural variantiVAR_060812102E → K in RP20 and LCA2. 2 PublicationsCorresponds to variant rs62642584dbSNPEnsembl.1
Natural variantiVAR_017133144Y → D in LCA2. 2 PublicationsCorresponds to variant rs61752880dbSNPEnsembl.1
Natural variantiVAR_060813148E → D in LCA2. 1 PublicationCorresponds to variant rs61752882dbSNPEnsembl.1
Natural variantiVAR_060814167D → Y in RP20 and LCA2. 2 PublicationsCorresponds to variant rs61752883dbSNPEnsembl.1
Natural variantiVAR_060815182H → N in LCA2. 1 PublicationCorresponds to variant rs61752884dbSNPEnsembl.1
Natural variantiVAR_017134182H → Y in LCA2. 2 PublicationsCorresponds to variant rs61752884dbSNPEnsembl.1
Natural variantiVAR_060816239Y → D in LCA2 and RP20. 2 PublicationsCorresponds to variant rs61752896dbSNPEnsembl.1
Natural variantiVAR_017135287V → F in LCA2. 1 PublicationCorresponds to variant rs281865289dbSNPEnsembl.1
Natural variantiVAR_067163313H → R in LCA2. 1 Publication1
Natural variantiVAR_060818330C → Y in LCA2. 2 PublicationsCorresponds to variant rs61752908dbSNPEnsembl.1
Natural variantiVAR_067164333G → R Found in a patient with LCA2. 1 Publication1
Natural variantiVAR_017138363P → T in LCA2. 3 PublicationsCorresponds to variant rs121917744dbSNPEnsembl.1
Natural variantiVAR_070173368Y → C Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 PublicationCorresponds to variant rs62653012dbSNPEnsembl.1
Natural variantiVAR_060819393A → E in LCA2. 1 Publication1
Natural variantiVAR_017140393A → G in LCA2. 1 PublicationCorresponds to variant rs62635773dbSNPEnsembl.1
Natural variantiVAR_017141417E → Q in LCA2. 1 PublicationCorresponds to variant rs62636299dbSNPEnsembl.1
Natural variantiVAR_018151431Y → C in LCA2. 1 PublicationCorresponds to variant rs62636300dbSNPEnsembl.1
Natural variantiVAR_034477434A → V in LCA2. 2 PublicationsCorresponds to variant rs34627040dbSNPEnsembl.1
Natural variantiVAR_060820435Y → C in LCA2. 1 PublicationCorresponds to variant rs62636302dbSNPEnsembl.1
Natural variantiVAR_060822470P → L in LCA2. 1 Publication1
Natural variantiVAR_037619515R → W in RP20; this mutation has been found in compound heterozygosity in LCA2. 1 PublicationCorresponds to variant rs121917745dbSNPEnsembl.1
Retinitis pigmentosa 20 (RP20)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613794
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07167260L → P in RP20. 1 Publication1
Natural variantiVAR_06716070F → V in LCA2 and RP20. 2 Publications1
Natural variantiVAR_06080979Y → H in RP20. 1 PublicationCorresponds to variant rs61752869dbSNPEnsembl.1
Natural variantiVAR_06081085R → H in RP20; uncertain pathological significance. 1 PublicationCorresponds to variant rs61752870dbSNPEnsembl.1
Natural variantiVAR_01713091R → W in RP20. 5 PublicationsCorresponds to variant rs61752871dbSNPEnsembl.1
Natural variantiVAR_06081195E → Q in RP20. 1 PublicationCorresponds to variant rs61752874dbSNPEnsembl.1
Natural variantiVAR_060812102E → K in RP20 and LCA2. 2 PublicationsCorresponds to variant rs62642584dbSNPEnsembl.1
Natural variantiVAR_017132132A → T in RP20; unknown pathological significance. 2 PublicationsCorresponds to variant rs61752878dbSNPEnsembl.1
Natural variantiVAR_060814167D → Y in RP20 and LCA2. 2 PublicationsCorresponds to variant rs61752883dbSNPEnsembl.1
Natural variantiVAR_060816239Y → D in LCA2 and RP20. 2 PublicationsCorresponds to variant rs61752896dbSNPEnsembl.1
Natural variantiVAR_060817294K → T in RP20. 1 PublicationCorresponds to variant rs61752901dbSNPEnsembl.1
Natural variantiVAR_017137341L → S in RP20. 1 PublicationCorresponds to variant rs61752909dbSNPEnsembl.1
Natural variantiVAR_017139368Y → H in RP20. 2 PublicationsCorresponds to variant rs62653011dbSNPEnsembl.1
Natural variantiVAR_060821436G → V in RP20. 1 PublicationCorresponds to variant rs62637002dbSNPEnsembl.1
Natural variantiVAR_017142452V → G in RP20. 1 PublicationCorresponds to variant rs62637004dbSNPEnsembl.1
Natural variantiVAR_060823473V → D in RP20. 3 PublicationsCorresponds to variant rs62637007dbSNPEnsembl.1
Natural variantiVAR_037619515R → W in RP20; this mutation has been found in compound heterozygosity in LCA2. 1 PublicationCorresponds to variant rs121917745dbSNPEnsembl.1
Natural variantiVAR_060824528G → V in RP20. 1 Publication1

Defects in RPE65 are a cause of autosomal dominant retinitis pigmentosa with choroidal involvement (PubMed:21654732). Affected individuals show reduction of central vision, constriction of visual fields, night blindness and chorioretinal atrophy.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi106C → A: Membrane associated. 1 Publication1
Mutagenesisi112C → A: Loss of enzymatic activity. No palmitoylation. Loss of membrane association. 1 Publication1
Mutagenesisi180H → A: Loss of enzymatic activity. 1 Publication1
Mutagenesisi241H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication1
Mutagenesisi313H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication1
Mutagenesisi469E → A: Decreasing protein levels. Loss of enzymatic activity. 1 Publication1
Mutagenesisi469E → Q: Decreasing protein levels. Loss of enzymatic activity. 1 Publication1
Mutagenesisi527H → A: Decreasing protein levels. Loss of enzymatic activity. Significantly decreased protein stability. 1 Publication1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNETi6121.
MalaCardsiRPE65.
MIMi204100. phenotype.
613794. phenotype.
OpenTargetsiENSG00000116745.
Orphaneti180. Choroideremia.
65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBiPA34655.

Polymorphism and mutation databases

BioMutaiRPE65.
DMDMi44888872.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001439432 – 533Retinoid isomerohydrolaseAdd BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineBy similarity1
Modified residuei101Phosphothreonine1 Publication1
Modified residuei105Phosphothreonine1 Publication1
Lipidationi112S-palmitoyl cysteine; in membrane form1 Publication1
Modified residuei113N6-acetyllysine1 Publication1
Modified residuei117Phosphoserine1 Publication1
Lipidationi231S-palmitoyl cysteine; in membrane formBy similarity1
Lipidationi329S-palmitoyl cysteine; in membrane formBy similarity1
Lipidationi330S-palmitoyl cysteine; in membrane formBy similarity1

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

Keywords - PTMi

Acetylation, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

PaxDbiQ16518.
PeptideAtlasiQ16518.
PRIDEiQ16518.

PTM databases

iPTMnetiQ16518.
PhosphoSitePlusiQ16518.
SwissPalmiQ16518.

Expressioni

Tissue specificityi

Retinal pigment epithelium specific.1 Publication

Gene expression databases

BgeeiENSG00000116745.
CleanExiHS_RPE65.
GenevisibleiQ16518. HS.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi112041. 6 interactors.
IntActiQ16518. 1 interactor.
STRINGi9606.ENSP00000262340.

Structurei

3D structure databases

ProteinModelPortaliQ16518.
SMRiQ16518.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the carotenoid oxygenase family.Curated

Phylogenomic databases

eggNOGiKOG1285. Eukaryota.
COG3670. LUCA.
GeneTreeiENSGT00500000044783.
HOGENOMiHOG000232156.
HOVERGENiHBG050679.
InParanoidiQ16518.
KOiK11158.
OMAiHFVPDRK.
OrthoDBiEOG091G04WW.
PhylomeDBiQ16518.
TreeFamiTF314019.

Family and domain databases

InterProiIPR004294. Carotenoid_Oase.
[Graphical view]
PANTHERiPTHR10543. PTHR10543. 2 hits.
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

        10         20         30         40         50
MSIQVEHPAG GYKKLFETVE ELSSPLTAHV TGRIPLWLTG SLLRCGPGLF
60 70 80 90 100
EVGSEPFYHL FDGQALLHKF DFKEGHVTYH RRFIRTDAYV RAMTEKRIVI
110 120 130 140 150
TEFGTCAFPD PCKNIFSRFF SYFRGVEVTD NALVNVYPVG EDYYACTETN
160 170 180 190 200
FITKINPETL ETIKQVDLCN YVSVNGATAH PHIENDGTVY NIGNCFGKNF
210 220 230 240 250
SIAYNIVKIP PLQADKEDPI SKSEIVVQFP CSDRFKPSYV HSFGLTPNYI
260 270 280 290 300
VFVETPVKIN LFKFLSSWSL WGANYMDCFE SNETMGVWLH IADKKRKKYL
310 320 330 340 350
NNKYRTSPFN LFHHINTYED NGFLIVDLCC WKGFEFVYNY LYLANLRENW
360 370 380 390 400
EEVKKNARKA PQPEVRRYVL PLNIDKADTG KNLVTLPNTT ATAILCSDET
410 420 430 440 450
IWLEPEVLFS GPRQAFEFPQ INYQKYCGKP YTYAYGLGLN HFVPDRLCKL
460 470 480 490 500
NVKTKETWVW QEPDSYPSEP IFVSHPDALE EDDGVVLSVV VSPGAGQKPA
510 520 530
YLLILNAKDL SEVARAEVEI NIPVTFHGLF KKS
Length:533
Mass (Da):60,948
Last modified:January 23, 2007 - v3
Checksum:i7193C93F3325798D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti254E → G in BAF82614 (PubMed:14702039).Curated1
Sequence conflicti274N → D in BAF82614 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01712622L → P in LCA2. 2 PublicationsCorresponds to variant rs61751277dbSNPEnsembl.1
Natural variantiVAR_06080836 – 38Missing in LCA2. 1 Publication3
Natural variantiVAR_01712740G → S in LCA2. 2 PublicationsCorresponds to variant rs61751281dbSNPEnsembl.1
Natural variantiVAR_01712844R → Q in LCA2. 2 PublicationsCorresponds to variant rs61751282dbSNPEnsembl.1
Natural variantiVAR_07167260L → P in RP20. 1 Publication1
Natural variantiVAR_07017267L → R Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 Publication1
Natural variantiVAR_01712968H → Y in LCA2. 1 PublicationCorresponds to variant rs61752866dbSNPEnsembl.1
Natural variantiVAR_06716070F → V in LCA2 and RP20. 2 Publications1
Natural variantiVAR_06080979Y → H in RP20. 1 PublicationCorresponds to variant rs61752869dbSNPEnsembl.1
Natural variantiVAR_06081085R → H in RP20; uncertain pathological significance. 1 PublicationCorresponds to variant rs61752870dbSNPEnsembl.1
Natural variantiVAR_06716191R → P in LCA2. 1 PublicationCorresponds to variant rs61752873dbSNPEnsembl.1
Natural variantiVAR_01713191R → Q in LCA2. 1 PublicationCorresponds to variant rs61752873dbSNPEnsembl.1
Natural variantiVAR_01713091R → W in RP20. 5 PublicationsCorresponds to variant rs61752871dbSNPEnsembl.1
Natural variantiVAR_06081195E → Q in RP20. 1 PublicationCorresponds to variant rs61752874dbSNPEnsembl.1
Natural variantiVAR_06716299V → I Found in a patient with LCA2; uncertain pathological significance. 1 PublicationCorresponds to variant rs143056561dbSNPEnsembl.1
Natural variantiVAR_060812102E → K in RP20 and LCA2. 2 PublicationsCorresponds to variant rs62642584dbSNPEnsembl.1
Natural variantiVAR_017132132A → T in RP20; unknown pathological significance. 2 PublicationsCorresponds to variant rs61752878dbSNPEnsembl.1
Natural variantiVAR_017133144Y → D in LCA2. 2 PublicationsCorresponds to variant rs61752880dbSNPEnsembl.1
Natural variantiVAR_060813148E → D in LCA2. 1 PublicationCorresponds to variant rs61752882dbSNPEnsembl.1
Natural variantiVAR_060814167D → Y in RP20 and LCA2. 2 PublicationsCorresponds to variant rs61752883dbSNPEnsembl.1
Natural variantiVAR_060815182H → N in LCA2. 1 PublicationCorresponds to variant rs61752884dbSNPEnsembl.1
Natural variantiVAR_017134182H → Y in LCA2. 2 PublicationsCorresponds to variant rs61752884dbSNPEnsembl.1
Natural variantiVAR_060816239Y → D in LCA2 and RP20. 2 PublicationsCorresponds to variant rs61752896dbSNPEnsembl.1
Natural variantiVAR_017135287V → F in LCA2. 1 PublicationCorresponds to variant rs281865289dbSNPEnsembl.1
Natural variantiVAR_060817294K → T in RP20. 1 PublicationCorresponds to variant rs61752901dbSNPEnsembl.1
Natural variantiVAR_067163313H → R in LCA2. 1 Publication1
Natural variantiVAR_017136321N → K.3 PublicationsCorresponds to variant rs149916178dbSNPEnsembl.1
Natural variantiVAR_060818330C → Y in LCA2. 2 PublicationsCorresponds to variant rs61752908dbSNPEnsembl.1
Natural variantiVAR_067164333G → R Found in a patient with LCA2. 1 Publication1
Natural variantiVAR_017137341L → S in RP20. 1 PublicationCorresponds to variant rs61752909dbSNPEnsembl.1
Natural variantiVAR_017138363P → T in LCA2. 3 PublicationsCorresponds to variant rs121917744dbSNPEnsembl.1
Natural variantiVAR_070173368Y → C Found in a patient with relatively mild LCA2; uncertain pathological significance. 1 PublicationCorresponds to variant rs62653012dbSNPEnsembl.1
Natural variantiVAR_017139368Y → H in RP20. 2 PublicationsCorresponds to variant rs62653011dbSNPEnsembl.1
Natural variantiVAR_060819393A → E in LCA2. 1 Publication1
Natural variantiVAR_017140393A → G in LCA2. 1 PublicationCorresponds to variant rs62635773dbSNPEnsembl.1
Natural variantiVAR_017141417E → Q in LCA2. 1 PublicationCorresponds to variant rs62636299dbSNPEnsembl.1
Natural variantiVAR_018151431Y → C in LCA2. 1 PublicationCorresponds to variant rs62636300dbSNPEnsembl.1
Natural variantiVAR_034477434A → V in LCA2. 2 PublicationsCorresponds to variant rs34627040dbSNPEnsembl.1
Natural variantiVAR_060820435Y → C in LCA2. 1 PublicationCorresponds to variant rs62636302dbSNPEnsembl.1
Natural variantiVAR_060821436G → V in RP20. 1 PublicationCorresponds to variant rs62637002dbSNPEnsembl.1
Natural variantiVAR_017142452V → G in RP20. 1 PublicationCorresponds to variant rs62637004dbSNPEnsembl.1
Natural variantiVAR_060822470P → L in LCA2. 1 Publication1
Natural variantiVAR_060823473V → D in RP20. 3 PublicationsCorresponds to variant rs62637007dbSNPEnsembl.1
Natural variantiVAR_067757477D → G Probable disease-associated mutation found in autosomal dominant retinitis pigmentosa with choroidal involvement. 1 Publication1
Natural variantiVAR_037619515R → W in RP20; this mutation has been found in compound heterozygosity in LCA2. 1 PublicationCorresponds to variant rs121917745dbSNPEnsembl.1
Natural variantiVAR_060824528G → V in RP20. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.2. human.

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ16518.
SMRiQ16518.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112041. 6 interactors.
IntActiQ16518. 1 interactor.
STRINGi9606.ENSP00000262340.

Chemistry databases

SwissLipidsiSLP:000000687.

PTM databases

iPTMnetiQ16518.
PhosphoSitePlusiQ16518.
SwissPalmiQ16518.

Polymorphism and mutation databases

BioMutaiRPE65.
DMDMi44888872.

Proteomic databases

PaxDbiQ16518.
PeptideAtlasiQ16518.
PRIDEiQ16518.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262340; ENSP00000262340; ENSG00000116745.
GeneIDi6121.
KEGGihsa:6121.
UCSCiuc001dei.2. human.

Organism-specific databases

CTDi6121.
DisGeNETi6121.
GeneCardsiRPE65.
GeneReviewsiRPE65.
HGNCiHGNC:10294. RPE65.
MalaCardsiRPE65.
MIMi180069. gene.
204100. phenotype.
613794. phenotype.
neXtProtiNX_Q16518.
OpenTargetsiENSG00000116745.
Orphaneti180. Choroideremia.
65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBiPA34655.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1285. Eukaryota.
COG3670. LUCA.
GeneTreeiENSGT00500000044783.
HOGENOMiHOG000232156.
HOVERGENiHBG050679.
InParanoidiQ16518.
KOiK11158.
OMAiHFVPDRK.
OrthoDBiEOG091G04WW.
PhylomeDBiQ16518.
TreeFamiTF314019.

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000116745-MONOMER.
ZFISH:ENSG00000116745-MONOMER.
ReactomeiR-HSA-2453902. The canonical retinoid cycle in rods (twilight vision).

Miscellaneous databases

ChiTaRSiRPE65. human.
GeneWikiiRPE65.
GenomeRNAii6121.
PROiQ16518.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116745.
CleanExiHS_RPE65.
GenevisibleiQ16518. HS.

Family and domain databases

InterProiIPR004294. Carotenoid_Oase.
[Graphical view]
PANTHERiPTHR10543. PTHR10543. 2 hits.
PfamiPF03055. RPE65. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 145 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.