DNAH9

dynein axonemal heavy chain 9

Ensembl:
ENSG00000007174
UniProt:
Q9NYC9
OMIM:
603330
Synonyms:
DNAH17L, DNAHC9, DNAL1, DYH9, HL-20

Cilia effects upon perturbation of DNAH9

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • Cell migration & adhesion

Function

Component of ciliary outer dynein arms and is required in cilia motility and ODA stability. In individuals with pathogenic variants in D H11, D H9 can reside in the place of D H11. Mutations confer a loss of ODAs in the distal portion of the ciliary axoneme and affects the ciliary beat pattern (30471717). Essential in distal axonemal assembly and docking of ODAs type 2, which occurs via direct interaction of D H9 with the docking complex protein CCDC114 (30471718)

Model organism evidence

Mus musculus (1 reference)

CAPZA1 deficiency disrupts sperm flagellar structure and motility, potentially involving the p300/SLC7A11 pathway.

PMIDs: 41858859