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X-linked retinitis pigmentosa GTPase regulator (RPGR, RP3, XLRP3)
Function:
- guanine-nucleotide releasing factor
- may play a role in ciliogenesis
- probably regulates cilia formation by regulating actin stress filaments & cell contractility
- interacts with PDE6D & RPGRIP1
- interacts with NPM1
- interacts with RPGRIP1L
Structure:
- contains 6 RCC1 repeats
- prenylated
Compartment:
- Golgi (putative)
- cytoplasm, cytoskeleton, cilium basal body (putative)
- centrosome
Alternative splicing:
- named isoforms=5
- additional isoforms seem to exist
Expression:
- expressed in heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas, fetal retinal pigment epithelium
- isoform 3 is found only in the retina
- colocalizes with RPGRIP1 in the outer segment of rod photoreceptors & cone outer segments
Pathology:
- defects in the RPGR gene are the cause of
a) X-linked retinitis pigmentosa type 3
b) retinitis pigmentosa with deafness & sinorespiratory infections (RPDSI)
c) X-linked cone-rod dystrophy 1
d) macular degeneration X- linked atrophic (Mdxla)
Related
retinitis pigmentosa type 3 (RP3)
retinitis pigmentosa, X-linked with deafness & sinorespiratory infections
RPGR gene mutation
RPGR-interacting protein 1; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)
X-linked cone-rod dystrophy
General
guanine nucleotide exchange factor (GDP/GTP dissociation stimulator, guanine nucleotide-releasing factor/protein, GNEF, GNDS, GDS)
prenyl protein
Properties
SIZE: MW = 113 kD
entity length = 1020 aa
COMPARTMENT: golgi
MOTIF: RCC1 repeat {54-105}
RCC1 repeat {106-158}
RCC1 repeat {159-208}
RCC1 repeat {209-261}
RCC1 repeat {262-313}
RCC1 repeat {314-367}
glutamate-rich region {530-903}
MOTIF: glutamate residue (SEVERAL)
CaaX motif
SITE: C-TERMINUS
QUALITIES: AAX-TRUNCATED
CARBOXYMETHYLATED
EFFECTOR-BOUND: geranylgeranyl{C20}
BOUND-VIA: cysteine residue
Database Correlations
OMIM correlations
MORBIDMAP 312610
UniProt Q92834
Pfam PF00415
Entrez Gene 6103
Kegg hsa:6103
References
- UniProt :accession Q92834
- Mutations of the RPGR gene;
Note: Retina International's scientific newsletter
http://www.retina-international.org/files/sci-news/rpgrmut.htm
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RPGR