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The Protein Pages

RPE65

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 22.03.00

Description

RPE65 serves a central, not yet elucidated, function in the recycling of the chromophore retinal.

GENE DATA

Exons: 14

Markers / RFLPs: D1S2803

Transcripts: mRNA: 2.7 kb

Regulatory elements:

Primers: complete

Chromosomes with RPE65 locus
Assignment: 1p31 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

LCA2
ARRP

PROTEIN DATA
Subunits: Amino acids: 533 AA
Modifications:

Mr/ Weight:

/ 65 kDa

Cofactors:


PROTEIN DATA

Click on entry to see database record online
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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
RPE65
RPE65 Bos taurus EC-
A47143 A48017 S28503
RPE65
RPE65 Homo sapiens EC- Q16518

RPE65
RPE65 Homo sapiens EC- Q16518

GENE DATA

Click on entry to see database record online
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Gene Subtype Locus Species Genbank Unigene Medline
RPE65
RPE65 Bos taurus L11356 X66277
93340181 93388633
RPE65
RPE65 Canis familiaris AF084537 Y16567
99208660
RPE65
RPE65 Homo sapiens U20510 U20480 U20481 U20482 U20483 U20484 U20485 U20486 U20487 U20488 U20476 U20477 U20478 U20479 U20476
95359969 97467732
RPE65
RPE65 Homo sapiens AF039855 AF039856 AF039857 AF039858 AF039859 AF039860 AF039861 AF039862 AF039863 AF039868 AF039864 AF039865 AF039866 AF039867 AF039868 U18991 NM_000329 G28531 G26788
95359969 98169501

GENE LOCUS DATA

Click on entry to see database record online
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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
RPE65
RPE65 Homo sapiens 226519
180069 204000 204100
RPE65
Rpe65 Mus musculus
Rpe65

References:
1. Hamel,C.P., Jenkins,N.A., Gilbert,D.J., Copeland,N.G., and Redmond,T.M. The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3. 1994; Genomics. 20: 509-512.
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2. Marlhens,F., Bareil,C., Griffoin,J.M., Zrenner,E., Amalric,P., Eliaou,C., Liu,S.Y., Harris,E., Redmond,T.M., Arnaud,B., Claustres,M., and Hamel,C.P. Mutations in RPE65 cause Lebers congenital amaurosis. 1997; Nat.Genet. 17: 139-141.
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3. Nicoletti,A., Kawase,K., and Thompson,D.A. Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein. 1998; Invest.Ophthalmol.Vis.Sci. 39: 637-644.
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4. Nicoletti,A., Swain,P.K., Swaroop,A., and Thompson,D.A. Regulation Of Gene Expression In The Retinal Pigment Epithelium: NRL Enhances Transcription From The RPE65 Promoter. 1998; Invest.Ophthalmol.Vis.Sci. 39: S197
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5. Redmond,T.M., Harris,E.W., Yu,S., Liu,S.Y., Kapsis,A., and Hamel,C.P. Analysis of the human gene for the retinal pigment epithelium specific protein RPE65. 1995; Invest.Ophthalmol.Vis.Sci. 37: S598
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Contact the editor: irpamp@irpa.org 		This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz