DNAL1

dynein axonemal light chain 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000119661
UniProt:
Q4LDG9
OMIM:
610062
Synonyms:
1700010H15RIK, C14ORF168, CILD16, MGC12435

Ciliogenesis screen results (2 screens)

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

Phenotypes

Mouse phenotype:
edema, preweaning lethality, complete penetrance, abnormal ileum morphology, decreased eosinophil cell number, abnormal lung morphology, increased respiratory quotient
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

References: PMID:21496787

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:21496787

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm

Function

Encodes an outer dynein arm light chain protein. Candidate gene for primary ciliary dyskisenia. Regulatory function for DNAH5 activity in outer dynein arms of sperm flagella, respiratory cilia, and ependymal cilia (15845866). Necessary for the function of the cilia that produce the nodal flow essential for the determination of left-right asymmetry (21496787)