InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RPGR

Summary

InnateDB Protein

IDBP-473831.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RPGR

Protein Name

retinitis pigmentosa GTPase regulator

Synonyms

COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3;

Species

Homo sapiens

Ensembl Protein

ENSP00000418926

InnateDB Gene

IDBG-56218 (RPGR)

Protein Structure

UniProt Annotation

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}.

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.

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.

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005085	guanyl-nucleotide exchange factor activity
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006886	intracellular protein transport
GO:0007601	visual perception
GO:0042073	intraciliary transport
GO:0042384	cilium assembly
GO:0043547	positive regulation of GTPase activity
GO:0050896	response to stimulus