SNCAIP

Cilia effects upon perturbation of SNCAIP

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Loss of motile ependymal cilia

Phenotypes

Mouse phenotype:

Sph1 knockout mice: early-onset hydrocephalus, severe loss and disorganisation of motile ependymal cilia, ventricular enlargement, disrupted ependymal architecture, mislocalised acetylated α-tubulin, aberrant mitochondria. Lifespan, motor performance, learning, anxiety, and gross brain morphology unaffected (Farhoud et al. 2026).

Subcellular localization

cytoplasm

References: doi:10.3390/ijms27083499

Functional category

• Microtubule organisation
• Motile ciliogenesis (ependymal)
• α-Synuclein interaction

Function

Synphilin-1; large ankyrin-repeat/coiled-coil scaffolding protein, an alpha-synuclein interactor and Lewy-body component implicated in Parkinson disease (rare R621C variant). Cilia-associated on functional grounds (Farhoud et al. 2026): SNCAIP is highly expressed in ventricular ependymal cells, and synphilin-1 knockout mice develop early-onset hydrocephalus with severe loss and disorganization of motile ependymal cilia, mislocalization of acetylated alpha-tubulin to the cytoplasm, and disrupted ependymal architecture - identifying synphilin-1 as a regulator of microtubule organization required to maintain motile ciliogenesis and CSF flow. Also reduces the mitochondrial matrix chaperone HSP60 (altered mito proteostasis). Cytoplasmic/scaffolding, not ciliary-localizing; ciliary link is functional (ependymal cilia loss).