DNAL1

dynein axonemal light chain 1

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

Cilia effects upon perturbation of DNAL1

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
Mouse ciliopathy phenotype:
polycystic kidney
Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

basal body, cilia

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 D H5 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 determi tion of left-right asymmetry (21496787)