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May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CG73"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17558407"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19430481"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19464661"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22927466"}],"value":"Interacts with NPHP4 and NPHP1; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors (By similarity). Interacts with TBXA2R (via C-terminus). Interacts with RPGR. Interacts with NEK4. Interacts with NPHP4, INVS and DVL2; the complex is proposed to be involved in DVL2 stabilization"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q68CZ1","intActId":"EBI-5235485"},"interactantTwo":{"uniProtKBAccession":"O75161","geneName":"NPHP4","intActId":"EBI-4281852"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q68CZ1","intActId":"EBI-5235485"},"interactantTwo":{"uniProtKBAccession":"Q9R0X5","geneName":"Rpgr","intActId":"EBI-6915619"},"numberOfExperiments":3,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"Q68CZ1-2","intActId":"EBI-9356215"},"interactantTwo":{"uniProtKBAccession":"O75161","geneName":"NPHP4","intActId":"EBI-4281852"},"numberOfExperiments":8,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CG73"}],"value":"In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Localizes to the ciliary transition zone"}]},"subcellularLocations":[{"location":{"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CG73"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21685204"}],"value":"Cytoplasm, cytoskeleton, cilium basal body","id":"SL-0087"}},{"location":{"value":"Cytoplasm, cytoskeleton, cilium axoneme","id":"SL-0304"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CG73"}],"value":"Cytoplasm, cytoskeleton, microtubule organizing center, centrosome","id":"SL-0048"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CG73"}],"value":"Cell junction, tight junction","id":"SL-0265"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q68CZ1-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q68CZ1-2"],"sequenceIds":["VSP_026161","VSP_026162"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17434869"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17558407"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17558409"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19464661"}],"value":"Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19430481"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21258341"}],"value":"Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Joubert syndrome 7","diseaseAccession":"DI-00610","acronym":"JBTS7","description":"A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.","diseaseCrossReference":{"database":"MIM","id":"611560"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17558407"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17558409"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17960139"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22693042"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Meckel syndrome 5","diseaseAccession":"DI-00703","acronym":"MKS5","description":"A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.","diseaseCrossReference":{"database":"MIM","id":"611561"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17558409"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19430481"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"COACH syndrome 3","diseaseAccession":"DI-05979","acronym":"COACH3","description":"A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive.","diseaseCrossReference":{"database":"MIM","id":"619113"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19574260"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the RPGRIP1 family"}],"commentType":"SIMILARITY"},{"commentType":"WEB RESOURCE","resourceName":"RPGRIP1-like (RPGRIP1L)","resourceUrl":"https://databases.lovd.nl/shared/genes/RPGRIP1L","ftp":false,"note":"Leiden Open Variation Database (LOVD)"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1315,"modifier":"EXACT"}},"description":"Protein fantom","featureId":"PRO_0000291267"},{"type":"Domain","location":{"start":{"value":577,"modifier":"EXACT"},"end":{"value":713,"modifier":"EXACT"}},"description":"C2 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