DNAI1 Gene: Dynein Axonemal Intermediate Chain 1
Essential Component of Ciliary Dynein Complex in Primary Ciliary Dyskinesia
Gene Information Card
| Symbol | DNAI1 |
|---|---|
| Full Name | dynein axonemal intermediate chain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 27019 ncbi.nlm.nih.gov/gene/27019 |
| Ensembl ID | ENSG00000122735 |
| UniProt ID | Q9UI46 |
| OMIM ID | 604366 |
| HGNC ID | 2954 |
| Aliases | PCD, CILD1, ICS, ICS1, DIC1, MGC26216 |
Description
The DNAI1 gene encodes dynein axonemal intermediate chain 1, a component of the outer dynein arm in cilia and flagella. This protein is essential for ciliary motility, facilitating the sliding of microtubules and generating the force required for ciliary beating. Mutations in DNAI1 are a common cause of primary ciliary dyskinesia (PCD), often associated with situs inversus (Kartagener syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 1 (CILD1) | Loss-of-function mutations in DNAI1 disrupt outer dynein arm assembly, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Kartagener Syndrome | Biallelic DNAI1 mutations cause PCD with situs inversus, chronic sinusitis, bronchiectasis, and infertility. | OMIM, NCBI |
| Situs Inversus Totalis | Defective ciliary function during embryonic development leads to random left-right body axis determination. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Trachea | 15.2 | Medium |
| Testis | 18.7 | Medium |
| Fallopian Tube | 14.1 | Medium |
| Brain (cerebellum) | 2.3 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 10.5 | Ciliated epithelial cell line |
| BEAS-2B (bronchial epithelium) | 12.1 | Normal bronchial epithelial cells |
| HepG2 (hepatocellular carcinoma) | 0.5 | Non-ciliated, low expression |
| HeLa (cervical carcinoma) | 1.2 | Non-ciliated, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.48+2T>C | Splice site | ~5% of PCD cases | Loss of function; exon skipping |
| c.1645G>A (p.Gly549Arg) | Missense | ~2% of PCD cases | Impaired protein folding and dynein assembly |
| c.1086delT (p.Phe362Leufs*2) | Frameshift | Rare | Premature stop; loss of function |
| c.1228C>T (p.Arg410*) | Nonsense | ~3% of PCD cases | Nonsense-mediated decay; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DNAI1 mutations are loss-of-function (nonsense, frameshift, splice site), leading to absent or nonfunctional outer dynein arm and impaired ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAI1.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • axonemal dynein complex (GO:0005858) | • motor activity (GO:0003774) |
| • microtubule-based movement (GO:0007018) | • cilium (GO:0005929) |
| • cilium movement (GO:0003341) | • outer dynein arm (GO:0036157) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Axonemal dynein assembly (Reactome: R-HSA-5620916)
• Cargo trafficking to the cilium (Reactome: R-HSA-5620912)
Protein Summary
Dynein axonemal intermediate chain 1 (DNAI1) is a 699-amino-acid protein that forms part of the outer dynein arm complex in cilia and flagella. It contains a conserved WD40 domain involved in protein-protein interactions and is essential for the assembly and stability of the dynein motor. The protein interacts with other dynein subunits (e.g., DNAH5, DNAI2) to generate the force for ciliary beating. Defects in DNAI1 lead to primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAI1 Knockout HEK293 Cell Line | EDJ-KQ8645 | Human | 27019 | Details Get a Quote |
| DNAI1 Knockout HeLa Cell Line | EDJ-KQ55984 | Human | 27019 | Details Get a Quote |
| DNAI1 Knockout A-549 Cell Line | EDJ-KQ64468 | Human | 27019 | Details Get a Quote |
| DNAI1 Knockout HCT 116 Cell Line | EDJ-KQ72926 | Human | 27019 | Details Get a Quote |
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