DNAAF19

dynein axonemal assembly factor 19

Ensembl:
ENSG00000167131
UniProt:
Q8IW40
OMIM:
614677
Synonyms:
CCDC103, CILD17, FLJ13094, FLJ34211, PR46B

Cilia effects upon perturbation of DNAAF19

Phenotypes

Mouse phenotype:
decreased lean body mass, increased circulating amylase level, preweaning lethality, complete penetrance, increased total body fat amount
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia

Functional category

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

Function

Participates in microtubule stabilization that facilitates dynein arm attachment and ciliary motility (28790179). Contributes to axonemal stability. A potential role, is to modify the doublet microtubule to provide a high affinity binding site for the docking complex and needed for dynein attachment (25572396) Binds and stabilises them against cold depolymerization. It is also an outer dynein arm assembly factor (31858719, 22581229)

Model organism evidence

Mus musculus (1 reference)

Loss of NSUN7 altered the abundance of proteins essential for dynein arm assembly (PIH1D3, CCDC103, CCDC40), intraflagellar transport (IFT122), and fibrous sheath organization (AKAP3, AKAP4, ROPN1L).

PMIDs: 41516134