DNAAF3

dynein axonemal assembly factor 3

Ensembl:
ENSG00000167646
UniProt:
Q8N9W5
OMIM:
614566
Synonyms:
C19ORF51, CILD2, FLJ36139, FLJ40069, PCD

Cilia effects upon perturbation of DNAAF3

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal body wall morphology, preweaning lethality, incomplete penetrance
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia associated gene

Functional category

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

Function

Needed for assembly of multiple axonemal inner and outer dynein arms into complexes beefore being transported into cilia, critical for nodal cilia motility. Loss prevents correct assembly of inner and outer dynein arms, abolishing motility of respiratory cilia and giving rise to classical primary ciliary dyskinesia with defective left- right organ asymmetry and male infertility (

Model organism evidence

Drosophila (1 reference)

Phyloproteomics reveals conserved patterns of axonemal dynein methylation across the motile ciliated eukaryotes.

PMIDs: 39969973

Mus musculus (1 reference)

DNAAF3 plays an important role in the assembly and transportation of axonemal dynein complexes in cilia or flagella and has been shown to be associated with PCD.

PMIDs: 39289782