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The Protein Pages

Retinitis Pigmentosa
GTPase Regulator
(RPGR)

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: 26.06.00

Description

RPGR is involved in intracellular and trans Golgi transport of newly synthetised proteins.

GENE DATA

Exons:

Markers / RFLPs:

Transcripts: 12 spliced isoforms

Regulatory elements:

Primers: Exon 14

Chromosome X with RPGR
Assignment: Xp21.1 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

XLRP, RP3

PROTEIN DATA
Subunits: 1 Amino acids: 646 (retina)
Modifications:

isoprenylated

Mr/ Weight:

?/200 kDa

Cofactors:

interacts with PDE6D


PROTEIN DATA

Click on entry to see database record online
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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
Retinitis Pigmentosa GTPase Regulator
RPGR Homo sapiens EC- Q92534 Q93039 Q00737 Q00702

GENE DATA

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Gene Subtype Locus Species Genbank Unigene Medline
Retinitis Pigmentosa GTPase Regulator
RPGR Canis familiaris AF030561

Retinitis Pigmentosa GTPase Regulator
RPGR Homo sapiens U57629 X97668 NM_000328 Hs.153614 96241570 96414315">
Retinitis Pigmentosa GTPase Regulator
RPGR Mus musculus (domesticus) AF044677 AJ238396 NM_011285 Mm.27720

GENE LOCUS DATA

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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
Retinitis Pigmentosa GTPase Regulator
RPGR Homo sapiens 118736
312610 6103
Retinitis Pigmentosa GTPase Regulator
RPGR Mus musculus (domesticus)
Rpgr
19893

References:
1. Capeans,C., Blanco,M.J., Lareu,M.V., Barros,F., Pineiro,A., Sanchez Salorio,M., and Carracedo,A. Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation. 1998; Clin.Genet. 54: 26-32.
Goto Top Link to PudMed
2. Dry,K.L., Manson,F.D.C., Edgar,A.J., Lennon,A.A., Bergen,A.A.B., Bird,A.C., and Wright,A. Mutation Detection And Characterisation Of RPGR The Gene For X Linked Retinitis Pigmentosa (RP3). 1997; Invest.Ophthalmol.Vis.Sci. 38: S679
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3. Holinski-Feder,E., Lorenz,B., Meyer,C., Dörner,C., Herrmann,K., Ueffing,M., and Meitinger,T. The RPGR Gene in Retinitis Pigmentosa Type 3. 1998; Invest.Ophthalmol.Vis.Sci. 39: S292
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4. Kirschner,R., Rosenberg,T., Schultz-Heienbrok,R., Lenzner,S., Feil,S., Roepman,R., Cremers,F.P., Ropers,H.H., and Berger,W. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X- linked retinitis pigmentosa. 1999; Hum.Mol.Genet. 8: 1571-1578.
Goto Top Link to PudMed
5. Kirschner,R., Zeitz,C., Knobeloch,K.-P., Rüther,K., Rohde,E., Hoffmann,K., Grosse,J., Horak,I., Roepman,R., Rosenberg,T., Cremers,F.P.M., Ropers,H.-H., and Berger ,W. X-linked retinitis pigmentosa 3 (RP3): identification of a retina-specific RPGR transcript and gene targeting of the mouse orthologue. 1999; Am.J.Hum.Genet. 65: A306
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6. Linari,M., Ueffing,M., Manson,F., Wright,A., Meitinger,T., and Becker,J. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. 1999; Proc.Natl.Acad.Sci.U.S.A. 96: 1315-1320.
Goto Top Link to PudMed
7. Meindl,A., Dry,K., Herrmann,K., Manson,F., Ciccodicola,A., Edgar,A., Carvalho,M.R., Achatz,H., Hellebrand,H., Lennon,A., Migliaccio,C., Porter,K., Zrenner,E., Bird,A., Jay,M., Lorenz,B., Wittwer,B., D'Urso,M., Meitinger,T., and Wright,A. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). 1996; Nat.Genet. 13: 35-42.
Goto Top Link to PudMed
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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