HOOK3

Cilia effects upon perturbation of HOOK3

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.23) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased body length; increased circulating alkaline phosphatase level; increased grip strength; hyperactivity; fibro-osseous lesion; hypoplasia; decreased prepulse inhibition; decreased total body fat amount; decreased bone mineral content; abnormal lung morphology; increased basophil cell number; decreased bone mineral density

Mouse ciliopathy phenotype:

increased circulating aspartate transaminase level

Ciliopathy associations

• Male Infertility

Subcellular localization

centriolar satellites, cilia associated gene, cytosol, golgi apparatus

Functional category

• Motile cilium & axoneme; Cilia???cytoskeleton/adhesion links

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