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Q91ZQ5

- RPE65_MOUSE

UniProt

Q91ZQ5 - RPE65_MOUSE

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Protein

Retinoid isomerohydrolase

Gene

Rpe65

Organism
Mus musculus (Mouse)
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.1 Publication

Cofactori

Binds 1 Fe2+ ion per subunit.By similarity

Sites

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

GO - Biological processi

  1. cellular response to electrical stimulus Source: MGI
  2. detection of light stimulus involved in visual perception Source: Ensembl
  3. insulin receptor signaling pathway Source: MGI
  4. regulation of rhodopsin gene expression Source: MGI
  5. retina development in camera-type eye Source: MGI
  6. retina homeostasis Source: Ensembl
  7. retinal metabolic process Source: MGI
  8. retina morphogenesis in camera-type eye Source: MGI
  9. visual perception Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Isomerase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_188277. 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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 3

Organism-specific databases

MGIiMGI:98001. Rpe65.

Subcellular locationi

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

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Defects in Rpe65 are the cause of light damage susceptibility (LDS) of the retina.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 533532Retinoid isomerohydrolasePRO_0000143944Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserineBy similarity
Modified residuei101 – 1011PhosphothreonineBy similarity
Modified residuei105 – 1051PhosphothreonineBy similarity
Lipidationi112 – 1121S-palmitoyl cysteine; in membrane formBy similarity
Modified residuei113 – 1131N6-acetyllysineBy similarity
Modified residuei117 – 1171PhosphoserineBy similarity
Lipidationi231 – 2311S-palmitoyl cysteine; in membrane formBy similarity
Lipidationi329 – 3291S-palmitoyl cysteine; in membrane formBy similarity
Lipidationi330 – 3301S-palmitoyl cysteine; in membrane formBy 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

Keywords - PTMi

Acetylation, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

PRIDEiQ91ZQ5.

PTM databases

PhosphoSiteiQ91ZQ5.

Expressioni

Tissue specificityi

Retinal pigment epithelium specific.2 Publications

Gene expression databases

CleanExiMM_RPE65.
ExpressionAtlasiQ91ZQ5. baseline.
GenevestigatoriQ91ZQ5.

Interactioni

Subunit structurei

Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65.By similarity

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000029824.

Structurei

3D structure databases

ProteinModelPortaliQ91ZQ5.
SMRiQ91ZQ5. Positions 4-533.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the carotenoid oxygenase family.Curated

Phylogenomic databases

eggNOGiCOG3670.
GeneTreeiENSGT00500000044783.
HOGENOMiHOG000232156.
HOVERGENiHBG050679.
InParanoidiQ91ZQ5.
KOiK11158.
OMAiTIREPSV.
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.

Q91ZQ5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSIQIEHPAG GYKKLFETVE ELSSPLTAHV TGRIPLWLTG SLLRCGPGLF
60 70 80 90 100
EVGSEPFYHL FDGQALLHKF DFKEGHVTYH RRFIRTDAYV RAMTEKRIVI
110 120 130 140 150
TEFGTCAFPD PCKNIFSRFF SYFKGVEVTD NALVNIYPVG EDYYACTETN
160 170 180 190 200
FITKINPETL ETIKQVDLCN YISVNGATAH PHIESDGTVY NIGNCFGKNF
210 220 230 240 250
TVAYNIIKIP PLKADKEDPI NKSEVVVQFP CSDRFKPSYV HSFGLTPNYI
260 270 280 290 300
VFVETPVKIN LFKFLSSWSL WGANYMDCFE SNESMGVWLH VADKKRRKYF
310 320 330 340 350
NNKYRTSPFN LFHHINTYED NGFLIVDLCC WKGFEFVYNY LYLANLRENW
360 370 380 390 400
EEVKRNAMKA PQPEVRRYVL PLTIDKVDTG RNLVTLPHTT ATATLRSDET
410 420 430 440 450
IWLEPEVLFS GPRQAFEFPQ INYQKFGGKP YTYAYGLGLN HFVPDKLCKM
460 470 480 490 500
NVKTKEIWMW QEPDSYPSEP IFVSQPDALE EDDGVVLSVV VSPGAGQKPA
510 520 530
YLLVLNAKDL SEIARAEVET NIPVTFHGLF KRS
Length:533
Mass (Da):61,085
Last modified:December 11, 2013 - v4
Checksum:iBBDA3EBDF5B7A5E2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti450 – 4501M → L Increased light damage susceptibility. 2 Publications

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF410461 mRNA. Translation: AAL01119.1.
AC163272 Genomic DNA. No translation available.
CH466532 Genomic DNA. Translation: EDL11842.1.
BC130028 mRNA. Translation: AAI30029.1.
AH011240 Genomic DNA. Translation: AAL39096.1.
CCDSiCCDS38683.1.
RefSeqiNP_084263.2. NM_029987.2.
UniGeneiMm.131708.

Genome annotation databases

EnsembliENSMUST00000029824; ENSMUSP00000029824; ENSMUSG00000028174.
GeneIDi19892.
KEGGimmu:19892.
UCSCiuc008rwb.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF410461 mRNA. Translation: AAL01119.1 .
AC163272 Genomic DNA. No translation available.
CH466532 Genomic DNA. Translation: EDL11842.1 .
BC130028 mRNA. Translation: AAI30029.1 .
AH011240 Genomic DNA. Translation: AAL39096.1 .
CCDSi CCDS38683.1.
RefSeqi NP_084263.2. NM_029987.2.
UniGenei Mm.131708.

3D structure databases

ProteinModelPortali Q91ZQ5.
SMRi Q91ZQ5. Positions 4-533.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 10090.ENSMUSP00000029824.

PTM databases

PhosphoSitei Q91ZQ5.

Proteomic databases

PRIDEi Q91ZQ5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000029824 ; ENSMUSP00000029824 ; ENSMUSG00000028174 .
GeneIDi 19892.
KEGGi mmu:19892.
UCSCi uc008rwb.1. mouse.

Organism-specific databases

CTDi 6121.
MGIi MGI:98001. Rpe65.

Phylogenomic databases

eggNOGi COG3670.
GeneTreei ENSGT00500000044783.
HOGENOMi HOG000232156.
HOVERGENi HBG050679.
InParanoidi Q91ZQ5.
KOi K11158.
OMAi TIREPSV.
TreeFami TF314019.

Enzyme and pathway databases

Reactomei REACT_188277. The canonical retinoid cycle in rods (twilight vision).

Miscellaneous databases

NextBioi 297412.
PROi Q91ZQ5.
SOURCEi Search...

Gene expression databases

CleanExi MM_RPE65.
ExpressionAtlasi Q91ZQ5. baseline.
Genevestigatori Q91ZQ5.

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. "Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA)."
    Pang J.J., Chang B., Hawes N.L., Hurd R.E., Davisson M.T., Li J., Noorwez S.M., Malhotra R., McDowell J.H., Kaushal S., Hauswirth W.W., Nusinowitz S., Thompson D.A., Heckenlively J.R.
    Mol. Vis. 11:152-162(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
    Strain: C57BL/6J.
    Tissue: Retina.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-450.
    Strain: C57BL/6J.
  3. Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
    Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
  5. "Sequence and structure of the mouse gene for RPE65."
    Boulanger A., Liu S., Yu S., Redmond T.M.
    Mol. Vis. 7:283-287(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-483.
    Strain: 129/Sv.
  6. "The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration."
    Wenzel A., Reme C.E., Williams T.P., Hafezi F., Grimm C.
    J. Neurosci. 21:53-58(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LEU-450.
  7. "Fatty acid transport protein 4 (FATP4) prevents light-induced degeneration of cone and rod photoreceptors by inhibiting RPE65 isomerase."
    Li S., Lee J., Zhou Y., Gordon W.C., Hill J.M., Bazan N.G., Miner J.H., Jin M.
    J. Neurosci. 33:3178-3189(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, TISSUE SPECIFICITY.

Entry informationi

Entry nameiRPE65_MOUSE
AccessioniPrimary (citable) accession number: Q91ZQ5
Secondary accession number(s): A1L3D1
, E9QNS6, H9KUX9, Q8VHP2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: December 11, 2013
Last modified: October 29, 2014
This is version 89 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3