DNALI1
Dynein Axonemal Light Intermediate Chain 1
Gene Information Card
| Symbol | DNALI1 |
|---|---|
| Full Name | dynein axonemal light intermediate chain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 7802 ncbi.nlm.nih.gov/gene/7802 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | O14645 |
| OMIM ID | 602135 |
| HGNC ID | 2955 |
| Aliases | P28, DNALI, dynein light intermediate chain 1, axonemal |
Description
DNALI1 encodes a light intermediate chain of the axonemal dynein complex, which is essential for ciliary and flagellar motility. The protein is part of the outer dynein arm and contributes to microtubule-based movement in respiratory cilia, sperm flagella, and other motile cilia. Mutations in DNALI1 are associated with primary ciliary dyskinesia (PCD) and related ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss of DNALI1 disrupts outer dynein arm assembly, impairing ciliary beat frequency and mucociliary clearance. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary motility during embryonic development can lead to randomization of left-right body asymmetry. | OMIM |
| Male Infertility | Impaired sperm flagellar motility due to defective axonemal dynein. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Trachea | 22.5 | Medium |
| Lung | 15.1 | Medium |
| Fallopian Tube | 12.8 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BEAS-2B (bronchial epithelial) | 18.7 | Ciliated airway model |
| hTERT-RPE1 (retinal pigment epithelial) | 9.4 | Ciliated cell line |
| HeLa (cervical carcinoma) | 1.2 | Non-ciliated control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.134G>A (p.Arg45His) | Missense | Rare | Likely pathogenic; disrupts dynein arm assembly |
| c.421C>T (p.Arg141*) | Nonsense | Very rare | Loss-of-function; associated with PCD |
| c.527_528delAG (p.Glu176Valfs*12) | Frameshift | Rare | Loss-of-function; predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg141*, p.Glu176Valfs*12) lead to truncated or absent protein, impairing outer dynein arm function.
Gain of Function (GOF)
No gain-of-function mutations reported for DNALI1.
Dominant Negative (DN)
No dominant-negative mutations reported for DNALI1.
View complete mutation data：
Gene Ontology (GO)
| • dynein complex | • axonemal dynein complex |
| • microtubule motor activity | • cilium movement |
| • flagellated sperm motility | • ATP binding |
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Axonemal dynein assembly (Reactome: R-HSA-5620916)
Protein Summary
DNALI1 encodes a 28 kDa light intermediate chain of the axonemal dynein complex. The protein localizes to the outer dynein arm of motile cilia and flagella, where it stabilizes the interaction between the heavy chain and microtubules. It contains a coiled-coil domain and a conserved dynein light intermediate chain domain. Defects in DNALI1 cause primary ciliary dyskinesia with or without situs inversus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNALI1 Knockout HEK293 Cell Line | EDJ-KQ6124 | Human | 7802 | Details Get a Quote |
| DNALI1 Knockout HeLa Cell Line | EDJ-KQ54796 | Human | 7802 | Details Get a Quote |
| DNALI1 Knockout A-549 Cell Line | EDJ-KQ63287 | Human | 7802 | Details Get a Quote |
| DNALI1 Knockout HCT 116 Cell Line | EDJ-KQ71754 | Human | 7802 | Details Get a Quote |
