| 简介 | 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]
Diseases associated with RPGRIP1L include Coach Syndrome 3 and Meckel Syndrome, Type 5. Among its related pathways are Signaling by Hedgehog and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include thromboxane A2 receptor binding. An important paralog of this gene is RPGRIP1.
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).
related to C elegans hypothetical protein,130.5kDa,C09G5.8
Cytoplasm 5
Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250 UniProtKB:Q8CG73 | ECO:0000269 PubMed:21685204}5
Cytoplasm, cytoskeleton, cilium axoneme
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250 UniProtKB:Q8CG73}
Cell junction, tight junction {ECO:0000250 UniProtKB:Q8CG73}
Note: In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Localizes to the ciliary transition zone {ECO:0000250 UniProtKB:Q8CG73}
Quaternary structure:
Interacts with NPHP4 and NPHP1; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L.
Interacts with IQCB1; the interaction likely requires additional interactors (By similarity).
Interacts with TBXA2R (via C-terminus).
Interacts with RPGR.
Interacts with NEK4.
Interacts with NPHP4, INVS and DVL2; the complex is proposed to be involved in DVL2 stabilization. |
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