HOOK1
hook microtubule tethering protein 1
- Ensembl:
- ENSG00000134709
- UniProt:
- Q9UJC3
- OMIM:
- 607820
- Synonyms:
- HK1
Cilia effects upon perturbation of HOOK1
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect 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:
- dysplasia; spermatogenesis defect; small spleen; abnormal skin morphology; enlarged lymph nodes
- Mouse ciliopathy phenotype:
- male infertility
Ciliopathy associations
- Male Infertility
Subcellular localization
cilia associated gene
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).