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)