HYDIN

Cilia effects upon perturbation of HYDIN

Loss-of-function effect:

Motility defects

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• 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

Human ciliopathy phenotype:

primary ciliary dyskinesia 5; primary ciliary dyskinesia

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

basal body

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Cell migration & adhesion

Function

Candidate for hydrocephalus in humans and primary ciliary dyskinesia (23022101). Interacts with the central pair proteins CPC1 and kinesin- like protein 1 (KLP1). Required for flagellar motility. Regulation of contact with the radial spokes dynein arm activity (17296796). Lack of Hydin causes deficiency on ciliary orientation and reduced alignment of neighboring cilia, as it is involved in regulating the dynein arms during the transitions between effective and recovery strokes (18250199). Mutations in Hydin impair ciliary motility: cilia unable to bend normally, beat frequency reduced. (18250199) HYDIN mutations cause primary ciliary dyskinesia.(36112114) HYDIN- and SPEF2-mutant cilia lack central pair protein SPEF2. (36112114)