Aliases for RPGRIP1L Gene
External Ids for RPGRIP1L Gene
Previous GeneCards Identifiers for RPGRIP1L Gene
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). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for RPGRIP1L Gene
RPGRIP1L (RPGRIP1-Like) is a Protein Coding gene. Diseases associated with RPGRIP1L include joubert syndrome 7 and meckel syndrome 5. Among its related pathways are Signaling by GPCR and Organelle biogenesis and maintenance. GO annotations related to this gene include thromboxane A2 receptor binding. An important paralog of this gene is RPGRIP1.
UniProtKB/Swiss-Prot for RPGRIP1L Gene
Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). 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 in kidney cells together with NPHP1 and NPHP4 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity).