{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q92834","secondaryAccessions":["B1ARN3","E9PE28","O00702","O00737","Q3KN84","Q8N5T6","Q93039","Q9HD29","Q9UMR1"],"uniProtkbId":"RPGR_HUMAN","entryAudit":{"firstPublicDate":"1997-11-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2002-09-19","entryVersion":239,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"X-linked retinitis pigmentosa GTPase regulator"}},"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:10295"}],"value":"RPGR"},"synonyms":[{"value":"RP3"},{"value":"XLRP3"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9R0X5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20631154"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21933838"}],"value":"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)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9R0X5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10958648"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19430481"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20631154"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23559067"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24981858"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9990021"}],"value":"Interacts with SPATA7 (By similarity). Interacts with CEP290 (By similarity). Interacts with WHRN (By similarity). Interacts with PDE6D (PubMed:23559067, PubMed:24981858, PubMed:9990021). Interacts with RPGRIP1 (PubMed:10958648, PubMed:24981858). Interacts with RPGRIP1L (PubMed:19430481, PubMed:24981858). PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites (PubMed:24981858). Interacts with RAB37 and RAB8A (in GDP-bound forms); functions as GEF for RAB37 and RAB8A (PubMed:20631154)"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15772089"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16043481"}],"value":"Isoform 6 interacts with NPM1 (via C-terminus) (PubMed:15772089). Isoform 6 interacts with SMC1A and SMC3 (PubMed:16043481)"}],"commentType":"SUBUNIT","molecule":"Isoform 6"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q92834","intActId":"EBI-6558417"},"interactantTwo":{"uniProtKBAccession":"Q8IX15-3","geneName":"HOMEZ","intActId":"EBI-10172004"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92834","intActId":"EBI-6558417"},"interactantTwo":{"uniProtKBAccession":"O15259","geneName":"NPHP1","intActId":"EBI-953828"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92834","intActId":"EBI-6558417"},"interactantTwo":{"uniProtKBAccession":"O75161","geneName":"NPHP4","intActId":"EBI-4281852"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92834","intActId":"EBI-6558417"},"interactantTwo":{"uniProtKBAccession":"O43924","geneName":"PDE6D","intActId":"EBI-712685"},"numberOfExperiments":12,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92834","intActId":"EBI-6558417"},"interactantTwo":{"uniProtKBAccession":"Q96KN7","geneName":"RPGRIP1","intActId":"EBI-1050213"},"numberOfExperiments":10,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92834","intActId":"EBI-6558417"},"interactantTwo":{"uniProtKBAccession":"Q96KN7-4","geneName":"RPGRIP1","intActId":"EBI-11525164"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92834","intActId":"EBI-6558417"},"interactantTwo":{"uniProtKBAccession":"O55057","geneName":"Pde6d","intActId":"EBI-6558402"},"numberOfExperiments":3,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"Q92834-2","intActId":"EBI-6558503"},"interactantTwo":{"uniProtKBAccession":"O43924","geneName":"PDE6D","intActId":"EBI-712685"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92834-2","intActId":"EBI-6558503"},"interactantTwo":{"uniProtKBAccession":"O55057","geneName":"Pde6d","intActId":"EBI-6558402"},"numberOfExperiments":3,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"Q92834-6","intActId":"EBI-16431517"},"interactantTwo":{"uniProtKBAccession":"Q14203-5","geneName":"DCTN1","intActId":"EBI-25840379"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92834-6","intActId":"EBI-16431517"},"interactantTwo":{"uniProtKBAccession":"Q8IX15-3","geneName":"HOMEZ","intActId":"EBI-10172004"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9N1T2"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9R0X5"}],"value":"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)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9R0X5"}],"value":"Cytoplasm, cytoskeleton, flagellum axoneme","id":"SL-0114"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15772089"}],"value":"Golgi apparatus","id":"SL-0132"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9R0X5"}],"value":"Cell projection, cilium","id":"SL-0066"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 6","subcellularLocations":[{"location":{"value":"Cytoplasm, cytoskeleton, microtubule organizing center, centrosome","id":"SL-0048"}},{"location":{"value":"Cytoplasm, cytoskeleton, cilium basal body","id":"SL-0087"}},{"location":{"value":"Cytoplasm, cytoskeleton, cilium axoneme","id":"SL-0304"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q92834-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q92834-2"],"sequenceIds":["VSP_005548"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q92834-3"],"sequenceIds":["VSP_005548","VSP_005549","VSP_005550"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q92834-4"],"sequenceIds":["VSP_005547","VSP_005548"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["Q92834-5"],"sequenceIds":["VSP_009183","VSP_009184"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"synonyms":[{"value":"ORF15"}],"isoformIds":["Q92834-6"],"sequenceIds":["VSP_044559"],"isoformSequenceStatus":"Described"}],"note":{"texts":[{"value":"Additional isoforms seem to exist."}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12140192"}],"value":"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"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24981858"}],"value":"The RCC1 repeat region mediates interactions with RPGRIP1"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9R0X5"}],"value":"Prenylated"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Retinitis pigmentosa 3","diseaseAccession":"DI-00973","acronym":"RP3","description":"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.","diseaseCrossReference":{"database":"MIM","id":"300029"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10482958"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10737996"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10932196"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10937588"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10970770"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11180598"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11992260"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12657579"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14564670"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16969763"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20631154"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24981858"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8673101"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8817343"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9399904"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9855162"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness","diseaseAccession":"DI-00997","acronym":"RPSRDF","description":"A disease characterized by the association of retinitis pigmentosa with recurrent upper and lower airway infections. Some patients also develop progressive hearing loss.","diseaseCrossReference":{"database":"MIM","id":"300455"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12920075"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14627685"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Cone-rod dystrophy, X-linked 1","diseaseAccession":"DI-00327","acronym":"CORDX1","description":"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.","diseaseCrossReference":{"database":"MIM","id":"304020"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11857109"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Macular degeneration, atrophic, X-linked","diseaseAccession":"DI-03005","acronym":"MDXLA","description":"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.","diseaseCrossReference":{"database":"MIM","id":"300834"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12160730"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1017,"modifier":"EXACT"}},"description":"X-linked retinitis pigmentosa GTPase regulator","featureId":"PRO_0000206638"},{"type":"Propeptide","location":{"start":{"value":1018,"modifier":"EXACT"},"end":{"value":1020,"modifier":"EXACT"}},"description":"Removed in mature form","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":"PRO_0000370844"},{"type":"Repeat","location":{"start":{"value":54,"modifier":"EXACT"},"end":{"value":105,"modifier":"EXACT"}},"description":"RCC1 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