DNAAF6

dynein axonemal assembly factor 6

Ensembl:
ENSG00000080572
UniProt:
Q9NQM4
OMIM:
300933
Synonyms:
CXORF41, MGC35261, NYSAR97, PIH1D3, TWISTER

Cilia effects upon perturbation of DNAAF6

Ciliogenesis screen results (1 screen)

  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-7.22) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Protein processing & maturation
  • Cell migration & adhesion

Function

Also known as PIH1D3. Involved in the cytoplasmatic preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations cause X-linked primary ciliary dyskinesia with ciliary and sperm immotility in humans (28041644, 28176794). Interacts with D ic2 (ODA IC2), Hsp70 and Hsp90, and may be required to maintain the stability of the IC1鈥揑C2 complex (24421334).Mutations lead to absence of outer and inner dynein arms in sperm flagella, male infertility and primary ciliary dyskinesia (32170493)

Model organism evidence

Xenopus (1 reference)

The binding of LARP6 and DNAAF6 in biomolecular condensates influences ciliogenesis of multiciliated cells.

PMIDs: 38762183

Drosophila (1 reference)

Mutations of these genes in humans cause the motile ciliopathy, Primary Ciliary Dyskinesia (PCD), but their different roles are not completely known.

PMIDs: 35873488