DNAH5

dynein axonemal heavy chain 5

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:11788826, PMID:25048963, PMID:23261302, PMID:19357118, PMID:41987553

Subcellular localization

cilia

References: PMID:42010243, PMID:30471717, PMID:11062149, PMID:15750039, PMID:18950741

Functional category

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

Function

Component of ciliary outer dynein arms, mutations can cause primary ciliary dyskinesia (30471717, 11062149). Cilia with complete axonemal DNAH5 deficiency are immotile (15750039). Essential for correct assembly of DNAI2 in type 1 and 2 ODA complexes (18950741)