DNAH1

dynein axonemal heavy chain 1

Tier: Gold Standard Ciliary Genes

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

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
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

References: PMID:25927852, PMID:31765523

Subcellular localization

cilia

References: PMID:11371505

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • 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)