RPGR
entrez
6103
canonical
uniprot
Q92834
canonical
ensembl
ENSG00000156313
resolver
ensp
ENSP00000343671
resolver
ensp
ENSP00000493468
resolver
ensp
ENSP00000494557
resolver
ensp
ENSP00000495537
resolver
ensp
ENSP00000496728
resolver
ensp
ENSP00000647220
resolver
ensp
ENSP00000647221
resolver
ensp
ENSP00000694704
resolver
enst
ENST00000644238
resolver
genesymbol
RPGR
resolver
genesymbol_syn
RP3
resolver
genesymbol_syn
XLRP3
resolver
hgnc
HGNC:10295
resolver
uniprot
A0A2R8YFT6
resolver
uniprot
B1ARN3
resolver
uniprot
E9PE28
resolver
uniprot
O00702
resolver
uniprot
O00737
resolver
uniprot
Q3KN84
resolver
uniprot
Q8N5T6
resolver
uniprot
Q93039
resolver
uniprot
Q9HD29
resolver
uniprot
Q9UMR1
resolver
uniprot_entry
A0A2R8YFT6_HUMAN
resolver
uniprot_entry
RPGR_HUMAN
resolver
uniprot_sec
B1ARN3
resolver
uniprot_sec
E9PE28
resolver
uniprot_sec
O00702
resolver
uniprot_sec
O00737
resolver
uniprot_sec
Q3KN84
resolver
uniprot_sec
Q8N5T6
resolver
uniprot_sec
Q93039
resolver
uniprot_sec
Q9HD29
resolver
uniprot_sec
Q9UMR1
resolver
amino_acid_sequence
MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTIEAFSDEEVGNDTGQVGPQADTDGEGLQKEVYRHENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKETKPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSIGDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 3 (RP3) [MIM:300029]: An 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:0000269|PubMed:10482958, ECO:0000269|PubMed:10737996, ECO:0000269|PubMed:10932196, ECO:0000269|PubMed:10937588, ECO:0000269|PubMed:10970770, ECO:0000269|PubMed:11180598, ECO:0000269|PubMed:11992260, ECO:0000269|PubMed:12657579, ECO:0000269|PubMed:14564670, ECO:0000269|PubMed:16969763, ECO:0000269|PubMed:20631154, ECO:0000269|PubMed:24981858, ECO:0000269|PubMed:8673101, ECO:0000269|PubMed:8817343, ECO:0000269|PubMed:9399904, ECO:0000269|PubMed:9855162}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness (RPSRDF) [MIM:300455]: A disease characterized by the association of retinitis pigmentosa with recurrent upper and lower airway infections. Some patients also develop progressive hearing loss. {ECO:0000269|PubMed:12920075, ECO:0000269|PubMed:14627685}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:11857109}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Macular degeneration, atrophic, X-linked (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:0000269|PubMed:12160730}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:20631154). GEF activity towards RAB8A may facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A (PubMed:20631154). GEF activity towards RAB37 maintains autophagic homeostasis and retinal function (By similarity). Involved in photoreceptor integrity (By similarity). May control cilia formation by regulating actin stress filaments and cell contractility. May be involved in microtubule organization and regulation of transport in primary cilia (PubMed:21933838). May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). {ECO:0000250|UniProtKB:Q9R0X5, ECO:0000269|PubMed:20631154, ECO:0000269|PubMed:21933838}.
uniprot
proteins
mass_dalton
113387
uniprot
proteins
mutagenesis
MUTAGEN 36; /note="V->F: Does not reduce interaction with PDE6D."; /evidence="ECO:0000269|PubMed:9990021"; MUTAGEN 323; /note="R->E: Abolishes interaction with RPGRIP1."; /evidence="ECO:0000269|PubMed:24981858
uniprot
proteins
post_translational_modification
PTM: Prenylated. {ECO:0000250|UniProtKB:Q9R0X5}.
uniprot
proteins
pubmed
10401007
uniprot
proteins
pubmed
10480356
uniprot
proteins
pubmed
10482958
uniprot
proteins
pubmed
10737996
uniprot
proteins
pubmed
10932196
uniprot
proteins
pubmed
10937588
uniprot
proteins
pubmed
10958648
uniprot
proteins
pubmed
10970770
uniprot
proteins
pubmed
10980543
uniprot
proteins
pubmed
11180598
uniprot
proteins
pubmed
11702207
uniprot
proteins
pubmed
11857109
uniprot
proteins
pubmed
11992260
uniprot
proteins
pubmed
12140192
uniprot
proteins
pubmed
12160730
uniprot
proteins
pubmed
12657579
uniprot
proteins
pubmed
12920075
uniprot
proteins
pubmed
14564670
uniprot
proteins
pubmed
14627685
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772089
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16043481
uniprot
proteins
pubmed
16969763
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19430481
uniprot
proteins
pubmed
20631154
uniprot
proteins
pubmed
21933838
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23559067
uniprot
proteins
pubmed
24981858
uniprot
proteins
pubmed
8673101
uniprot
proteins
pubmed
8817343
uniprot
proteins
pubmed
9399904
uniprot
proteins
pubmed
9855162
uniprot
proteins
pubmed
9990021
uniprot
proteins
sequence_length
1020
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q9R0X5}. Golgi apparatus {ECO:0000269|PubMed:15772089}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9R0X5}. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with WHRN in the photoreceptor connecting cilium (By similarity). Colocalizes with CEP290 in the photoreceptor connecting cilium (By similarity). Colocalizes with RPGRIP1 in the photoreceptor connecting cilium (By similarity). Colocalizes with RPGR at the primary cilia of epithelial cells (By similarity). {ECO:0000250|UniProtKB:Q9N1T2, ECO:0000250|UniProtKB:Q9R0X5}.; SUBCELLULAR LOCATION: [Isoform 6]: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.
uniprot
proteins