DNAH5

dynein axonemal heavy chain 5

Ensembl:
ENSG00000039139
UniProt:
Q8TE73
OMIM:
603335
Synonyms:
CILD3, DNAHC5, HL1, KTGNR, PCD

Cilia effects upon perturbation of DNAH5

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.86) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=3.19) PMID:20393562

Phenotypes

Mouse phenotype:
preweaning lethality, incomplete penetrance, increased circulating total protein level, increased circulating calcium level, increased blood urea nitrogen level, preweaning lethality, complete penetrance
Human ciliopathy phenotype:
primary ciliary dyskinesia; Heterotaxy

Ciliopathy associations

  • Mucociliary Clearance Disorder
  • Primary Ciliary Dyskinesia
  • Visceral Heterotaxy / Situs Inversus

Subcellular localization

cilia

Functional category

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

Function

Component of ciliary outer dynein arms, mutations can cause primary ciliary dyskinesia (30471717, 11062149). Cilia with complete axonemal D H5 deficiency are immotile (15750039). Essential for correct assembly of D I2 in type 1 and 2 ODA complexes (18950741)