{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q96KN7","secondaryAccessions":["Q7Z2W6","Q8IXV5","Q96QA8","Q9HB94","Q9HB95","Q9HBK6","Q9NR40"],"uniProtkbId":"RPGR1_HUMAN","entryAudit":{"firstPublicDate":"2004-03-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2010-05-18","entryVersion":196,"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-interacting protein 1"},"shortNames":[{"value":"RPGR-interacting protein 1"}]}},"genes":[{"geneName":{"value":"RPGRIP1"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9EPQ2"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"10958648"}],"value":"May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9EPQ2"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10958647"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10958648"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16339905"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20200501"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224891"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21685204"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24981858"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25398945"}],"value":"Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR (PubMed:10958647, PubMed:10958648, PubMed:24981858). Interacts with NPHP4 (PubMed:16339905, PubMed:21224891). Interacts with NEK4 (PubMed:21685204). Interacts with SPATA7 (PubMed:25398945). Interacts with CEP290/NPHP6; mediating the association between RPGR and CEP290/NPHP6 (PubMed:20200501)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q8WTP8","geneName":"AEN","intActId":"EBI-8637627"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q9HC52","geneName":"CBX8","intActId":"EBI-712912"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q8IYE0-2","geneName":"CCDC146","intActId":"EBI-10247802"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q9NX63","geneName":"CHCHD3","intActId":"EBI-743375"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q1MSJ5-2","geneName":"CSPP1","intActId":"EBI-10239155"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q7L190","geneName":"DPPA4","intActId":"EBI-710457"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q96JP0","geneName":"FEM1C","intActId":"EBI-2515330"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q8WXI9","geneName":"GATAD2B","intActId":"EBI-923440"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q9NQ87","geneName":"HEYL","intActId":"EBI-751092"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"O15479","geneName":"MAGEB2","intActId":"EBI-1057615"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"O75161","geneName":"NPHP4","intActId":"EBI-4281852"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q92834","geneName":"RPGR","intActId":"EBI-6558417"},"numberOfExperiments":10,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q8N5L8","geneName":"RPP25L","intActId":"EBI-10189722"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q9BWG6","geneName":"SCNM1","intActId":"EBI-748391"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q9P0N9","geneName":"TBC1D7","intActId":"EBI-3258000"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"P0C1Z6-2","geneName":"TFPT","intActId":"EBI-10178002"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q96RU7","geneName":"TRIB3","intActId":"EBI-492476"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q9Y3M9","geneName":"ZNF337","intActId":"EBI-714987"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q8TAU3","geneName":"ZNF417","intActId":"EBI-740727"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7","intActId":"EBI-1050213"},"interactantTwo":{"uniProtKBAccession":"Q8TBZ8","geneName":"ZNF564","intActId":"EBI-10273713"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7-1","intActId":"EBI-12499377"},"interactantTwo":{"uniProtKBAccession":"O75161-1","geneName":"NPHP4","intActId":"EBI-12499345"},"numberOfExperiments":9,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7-4","intActId":"EBI-11525164"},"interactantTwo":{"uniProtKBAccession":"A0A0S2Z4G9","geneName":"RNF6","intActId":"EBI-16428950"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q96KN7-4","intActId":"EBI-11525164"},"interactantTwo":{"uniProtKBAccession":"Q92834","geneName"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In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity). Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21685204"}],"value":"Cell projection, cilium","id":"SL-0066"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q96KN7-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"a"}],"isoformIds":["Q96KN7-2"],"sequenceIds":["VSP_009521","VSP_009525"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"synonyms":[{"value":"b"}],"isoformIds":["Q96KN7-3"],"sequenceIds":["VSP_009522","VSP_009526"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q96KN7-4"],"sequenceIds":["VSP_009519","VSP_009523","VSP_009524"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["Q96KN7-5"],"sequenceIds":["VSP_009520"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"isoformIds":["Q96KN7-6"],"sequenceIds":["VSP_009520","VSP_009527"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10958647"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10958648"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12140192"}],"value":"Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR 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 C2 domain does not bind calcium ions, and does not bind phosphoinositides"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Leber congenital amaurosis 6","diseaseAccession":"DI-00634","acronym":"LCA6","description":"A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.","diseaseCrossReference":{"database":"MIM","id":"613826"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11528500"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17306875"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17554762"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18682808"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24981858"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Cone-rod dystrophy 13","diseaseAccession":"DI-00323","acronym":"CORD13","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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.","diseaseCrossReference":{"database":"MIM","id":"608194"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10958648"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12920076"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224891"}],"value":"Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons (PubMed:21224891)"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the RPGRIP1 family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"CAE11866.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1286,"modifier":"EXACT"}},"description":"X-linked retinitis pigmentosa GTPase regulator-interacting protein 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