Involved in several processes, including non-motile cilium assembly; protein localization to cilium; and protein to membrane docking. Located in ciliary basal body and ciliary transition zone. Expressed in chemosensory neurons and ciliated neurons. Used to study ciliopathy. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 7; Leber hereditary optic neuropathy; and retinal disease (multiple). Is an ortholog of human RPGRIP1L (RPGRIP1 like).
Involved in protein localization to ciliary inversin compartment. Located in ciliary inversin compartment. Expressed in neurons. Human ortholog(s) of this gene implicated in hypertension and nephronophthisis 2. Is an ortholog of human INVS (inversin).
Involved in several processes, including determination of adult lifespan; male mating behavior; and plasma membrane bounded cell projection organization. Located in ciliary basal body; ciliary transition zone; and non-motile cilium. Expressed in cloacal ganglion; neurons; and tail ganglion. Used to study Meckel syndrome and nephronophthisis. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 4; Senior-Loken syndrome; and nephronophthisis 4. Is an ortholog of human NPHP4 (nephrocystin 4).
Involved in several processes, including determination of adult lifespan; male mating behavior; and non-motile cilium assembly. Located in cilium. Expressed in ciliated neurons; cloacal ganglion; postcloacal sensillum; and sensory neurons. Used to study nephronophthisis. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 4; Senior-Loken syndrome; and nephronophthisis 1. Is an ortholog of human NPHP1 (nephrocystin 1).
Involved in non-motile cilium assembly. Located in ciliary transition zone. Expressed in neurons. Used to study Meckel syndrome. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome 14; COACH syndrome; and Joubert syndrome 6. Is an ortholog of human TMEM67 (transmembrane protein 67).
Predicted to enable double-stranded DNA binding activity and histone methyltransferase activity. Predicted to be involved in chromatin remodeling. Predicted to be located in nucleus.