Aliases for PKD1L1 Gene
External Ids for PKD1L1 Gene
Previous GeneCards Identifiers for PKD1L1 Gene
This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for PKD1L1 Gene
PKD1L1 (Polycystic Kidney Disease 1 Like 1) is a Protein Coding gene. Diseases associated with PKD1L1 include diaphanospondylodysostosis and polycystic kidney disease. GO annotations related to this gene include calcium channel activity. An important paralog of this gene is PKD1.
UniProtKB/Swiss-Prot for PKD1L1 Gene
Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning.