DNAH1

dynein axonemal heavy chain 1

Ensembl:
ENSG00000114841
UniProt:
Q9P2D7
OMIM:
603332
Synonyms:
DNAHC1, HDHC7, HL-11, HL11, XLHSRF-1

Cilia effects upon perturbation of DNAH1

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • 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=2.31) PMID:20393562

Phenotypes

Mouse phenotype:
decreased circulating serum albumin level, abnormal coat appearance, decreased circulating alkaline phosphatase level, decreased circulating total protein level, abnormal skin coloration
Mouse ciliopathy phenotype:
decreased circulating calcium level
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia

Functional category

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

Function

Formation of the inner dynein arms, its absence is deleterious for the organization and biogenesis of the axoneme. Knockout causes asthenozoospermia and and respiratory disease due to decrease in the beat frequency of tracheal cilia (11371505)

Model organism evidence

Mus musculus (1 reference)

Transmission electron microscopy (TEM) revealed pronounced axonemal abnormalities, including inner dynein arms (IDAs) impairment and central pair (CP) loss in sperm flagella of the patients.

PMIDs: 40146200