RIMBP3

RIMS binding protein 3

Ensembl:
ENSG00000275793
UniProt:
Q9UFD9
OMIM:
612699
Synonyms:
KIAA1666, RIMBP3.1, RIMBP3A

Cilia effects upon perturbation of RIMBP3

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

  • Male Infertility

Subcellular localization

cilia associated gene, plasma membrane, vesicles

Function

LRGUK1 is essential for normal manchette and basal body function and that it likely achieves this role in partnership with members of the HOOK family of proteins: HOOK1–3, RIMBP3, and KLC3. Specifically, we have shown that LRGUK1 binds to HOOK2 and RIMBP3 via its GUK-like domain and to KLC3 via the LRR domain and that the loss of LRGUK1, as seen in LrgukKaos/Kaos mice, leads to the absence of sperm tail extension from the basal body(PMID: 28003339).

Model organism evidence

Mus musculus (1 reference)

Multiciliated ependymal cells line the ventricle wall and generate CSF flow through ciliary beating.

PMIDs: 34815315