ATXN10

Cilia effects upon perturbation of ATXN10

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-6.92) PMID:41160700

Phenotypes

Mouse phenotype:

pretal lethality prior to heart atrial septation, preweaning lethality, complete penetrance, embryonic lethality prior to organogenesis

Human ciliopathy phenotype:

spinocerebellar ataxia type 10

Ciliopathy associations

• Spinocerebellar Ataxia

References: PMID:40232546, PMID:15201271, PMID:11017075

Subcellular localization

basal body, cytosol, cilia

References: PMID:41005307, PMID:21565611, PMID:34970537

Functional category

• Ciliary assembly/disassembly

Function

Mutated in 1 NPHP family (splice-site mutation). Forms complex with NPHP5 and 6 at the basal body (21565611) Mutated in spinocerebellar ataxia 10. In Atxn10Cagg pancreata, the islets exhibited longer cilia, and the exocrine regions of the pancreas had a high density of ciliated cells. While a ciliary role for ATXN10 cannot be excluded, we show that loss of ATXN10 does not affect ciliogenesis in fibroblast or epithelial cells (PMID: 34970537)