InnateDB Protein
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IDBP-56224.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RPGR
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Protein Name
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retinitis pigmentosa GTPase regulator
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Synonyms
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COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000322219
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InnateDB Gene
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IDBG-56218 (RPGR)
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Protein Structure
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Function |
Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia. {ECO:0000250, ECO:0000269PubMed:21933838}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250}. Golgi apparatus {ECO:0000269PubMed:15772089}.Isoform 6: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.
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Disease Associations |
Retinitis pigmentosa 3 (RP3) [MIM:300029]: A X-linked 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. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex. {ECO:0000269PubMed:10482958, ECO:0000269PubMed:10737996, ECO:0000269PubMed:10932196, ECO:0000269PubMed:10937588, ECO:0000269PubMed:10970770, ECO:0000269PubMed:11180598, ECO:0000269PubMed:11992260, ECO:0000269PubMed:12657579, ECO:0000269PubMed:14564670, ECO:0000269PubMed:8673101, ECO:0000269PubMed:8817343, ECO:0000269PubMed:9399904, ECO:0000269PubMed:9855162}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI) [MIM:300455]: A disease characterized by the association primary ciliary dyskinesia features with retinitis pigmentosa. Some patients also manifest deafness. {ECO:0000269PubMed:12920075, ECO:0000269PubMed:14627685}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cone-rod dystrophy, X-linked 1 (CORDX1) [MIM:304020]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms. {ECO:0000269PubMed:11857109}. Note=The disease is caused by mutations affecting the gene represented in this entry.Macular degeneration, X-linked, atrophic (MDXLA) [MIM:300834]: An ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration. {ECO:0000269PubMed:12160730}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments. {ECO:0000269PubMed:12140192}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
14
[view]
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Protein-Protein |
14
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000408
Regulator of chromosome condensation, RCC1
IPR009091
Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
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PFAM |
PF00415
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PRINTS |
PR00633
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q92834
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PhosphoSite |
PhosphoSite-Q92834
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6103
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UniGene |
Hs.61438
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RefSeq |
NP_000319
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HUGO |
HGNC:10295
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OMIM |
312610
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CCDS |
CCDS14246
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HPRD |
02425
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IMGT |
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EMBL |
AF286471
AJ238395
AJ318463
AL606748
BC031624
BK005711
CH471141
U57629
X97668
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GenPept |
AAC50481
AAG00550
AAH31624
CAA66258
CAB54002
CAC86116
CAI95407
DAA05713
EAW59441
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