DNAL1: Dynein Axonemal Light Chain 1
Essential component of the axonemal dynein complex involved in ciliary motility
Gene Information Card
| Symbol | DNAL1 |
|---|---|
| Full Name | dynein axonemal light chain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 83544 ncbi.nlm.nih.gov/gene/83544 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9Y5V3 |
| OMIM ID | 610062 |
| HGNC ID | 23242 |
| Aliases | CILD19, DNALI1, dynein light chain 1, axonemal |
Description
DNAL1 encodes a light chain component of the axonemal dynein complex, which is essential for ciliary and flagellar motility. The protein interacts with the heavy and intermediate chains of dynein to regulate microtubule sliding in cilia. Mutations in DNAL1 cause primary ciliary dyskinesia type 19 (CILD19), characterized by impaired mucociliary clearance, chronic respiratory infections, and situs inversus in some cases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia 19 (CILD19) | Loss-of-function mutations in DNAL1 disrupt axonemal dynein assembly, impairing ciliary beat frequency and waveform. | ClinVar, OMIM #614017 |
| Kartagener syndrome | Biallelic DNAL1 mutations can cause situs inversus totalis combined with chronic sinusitis and bronchiectasis. | OMIM #244400, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Trachea | 8.2 | Medium |
| Lung | 6.1 | Low |
| Fallopian tube | 5.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BEAS-2B (bronchial epithelial) | 9.4 | Ciliated airway model |
| hTERT-RPE1 (retinal pigment epithelial) | 7.1 | Ciliated cell line |
| HeLa | 2.3 | Non-ciliated control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.168G>A (p.Trp56*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.325C>T (p.Arg109Trp) | Missense | Rare | Impaired dynein complex assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants lead to truncated or absent DNAL1 protein, causing primary ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAL1.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • motor activity (GO:0003774) | • axonemal dynein complex (GO:0005858) |
| • microtubule-based movement (GO:0007018) | • outer dynein arm assembly (GO:0036157) |
| • cilium-dependent cell motility (GO:0060285) |
Pathways
• Ciliary motility (REACT: R-HSA-5620920)
• Axonemal dynein complex assembly
Protein Summary
DNAL1 is a 22 kDa light chain protein (198 amino acids) belonging to the dynein light chain family. It localizes to the axonemal outer dynein arm and is required for proper ciliary beat frequency. The protein contains a conserved LC8-like domain that mediates interaction with dynein intermediate chains. Loss of DNAL1 disrupts microtubule sliding in cilia, leading to impaired mucociliary clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAL1 Knockout HEK293 Cell Line | EDJ-KQ51784 | Human | 83544 | Details Get a Quote |
| DNAL1 Knockout HeLa Cell Line | EDJ-KQ57447 | Human | 83544 | Details Get a Quote |
| DNAL1 Knockout A-549 Cell Line | EDJ-KQ65951 | Human | 83544 | Details Get a Quote |
| DNAL1 Knockout HCT 116 Cell Line | EDJ-KQ74375 | Human | 83544 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
