The nephrocystin proteins comprise a family of five enzymes that commonly interact with p130Cas, proline-rich tyrosine kinases, calmodulin and tensin, indicating that these proteins may participate in a common signaling pathway. Localized to the outer segments and primary cilia of photoreceptor cells, nephrocystin-5 is complexed with RPGR (retinitis pigmentosa GTPase regulator) and interacts directly with calmodulin. Nephrocystin-5 is thought to participate with RPGR in a pathway of ciliary function in the kidey and retina. Mutations in the gene encoding nephrocystin-5 are the primary cause of Senior-Loken syndrome 5, a juvenile disorder characterized by defects in the waste filtering system of the kidney, as well as retinal degradation.
IQ calmodulin-binding motif-containing protein 1; IQCB1; KIAA0036; nephrocystin 5; Nephrocystin-5; NPHP5; OK/SW-cl.85; p53 and DNA damage-regulated IQ motif protein; PIQ