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- Table of Contents
Facts about Protein fantom.
Involved in the organization of apical junctions; the purpose is suggested to implicate a NPHP1-4-8 module. Does not appear to be strictly required for ciliogenesis (PubMed:19464661).
Human | |
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Gene Name: | RPGRIP1L |
Uniprot: | Q68CZ1 |
Entrez: | 23322 |
Belongs to: |
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RPGRIP1 family |
CORS3; FTMDKFZp686C0668; JBTS7fantom homolog; KIAA1005RPGRIP1-like protein; MKS5nephrocystin 8; NPHP8; protein fantom; RPGR-interacting protein 1-like protein; RPGRIP1-like
Mass (kDA):
151.201 kDA
Human | |
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Location: | 16q12.2 |
Sequence: | 16; NC_000016.10 (53598153..53703938, complement) |
Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney.
Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction. 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.
PMID: 17558409 by Delous M., et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
PMID: 17558407 by Arts H.H., et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.