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). [provided by RefSeq, Jun 2016]
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 Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. 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) (PubMed:19464661). 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; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity).