ATXN10

ataxin 10

Ensembl:
ENSG00000130638
UniProt:
Q9UBB4
OMIM:
611150
Synonyms:
ATX10, E46L, FLJ37990, SCA10

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

Subcellular localization

basal body, cytosol

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)

Model organism evidence

Mus musculus (2 references)

Atxn10 is also implicated in the ciliopathy syndromes nephronophthisis (NPHP) and Joubert syndrome (JBTS), which are caused by the disruption of cilia function leading to nephron loss, impaired renal function, and cerebellar hypoplasia.

Using 38 interactors as candidates, linkage and sequencing analysis of 250 patients identified ATXN10 and TCTN2 as new NPHP-JBTS genes, and our Tctn2 mouse knockout shows neural tube and Hedgehog signaling defects.

PMIDs: 34970537, 21565611