RPGRIP1L, Official Symbol RPGRIP1Lprovided by HGNC Official Full Name RPGRIP1 likeprovided by HGNC Primary source HGNC:HGNC:29168 See related Ensembl:ENSG00000103494 MIM:610937; AllianceGenome:HGNC:29168 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FTM; MKS5; CORS3; JBTS7; NPHP8; COACH3; PPP1R134 Summary The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016] Expression Broad expression in testis (RPKM 3.8), brain (RPKM 1.3) and 19 other tissues See more Orthologs mouse all