DAW1 (Dynein Assembly Factor 1, Axonemal)
Essential for Ciliary Dynein Arm Assembly and Motile Cilia Function
Gene Information Card
| Symbol | DAW1 |
|---|---|
| Full Name | Dynein Assembly Factor 1, Axonemal |
| Gene Type | Protein coding |
| Chromosomal Location | 2q36.1 |
| NCBI Gene ID | 79183 ncbi.nlm.nih.gov/gene/79183 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q6P3X3 |
| OMIM ID | 618958 |
| HGNC ID | 26883 |
| Aliases | ODA7, CILD52, DNAAF2 |
Description
DAW1 (also known as ODA7 and DNAAF2) encodes a cytoplasmic protein involved in the preassembly of dynein arm complexes required for ciliary motility. It is essential for the formation of outer dynein arms (ODAs) in motile cilia and flagella. Loss-of-function mutations in DAW1 cause primary ciliary dyskinesia (PCD) with defects in mucociliary clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 52 (CILD52) | Loss-of-function mutations impair outer dynein arm assembly, leading to immotile cilia and defective mucociliary clearance. | OMIM #618958; ClinVar; PMID: 28884920 |
| Situs Inversus Totalis (Kartagener syndrome) | Ciliary dyskinesia can disrupt left-right body patterning, resulting in situs inversus. | OMIM #244400; PMID: 28884920 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Medium |
| Trachea | 7.9 | Medium |
| Fallopian Tube | 6.8 | Low |
| Brain (Cerebellum) | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II (pancreas) | 9.3 | RNA-seq |
| A549 (lung) | 7.1 | RNA-seq |
| BEAS-2B (bronchial) | 6.5 | RNA-seq |
| HepG2 (liver) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; predicted NMD |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein |
| c.238_239del (p.Leu80fs) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic variants in DAW1 are loss-of-function (nonsense, frameshift, start loss), leading to absent or nonfunctional protein and defective outer dynein arm assembly.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • outer dynein arm assembly (GO:0036158) | • epithelial cilium movement involved in extracellular fluid movement (GO:0003351) |
| • cytoplasm (GO:0005737) | • cytoskeleton (GO:0005856) |
Pathways
• Cilium Assembly (Reactome: R-HSA-5617833)
• Axonemal dynein assembly (Gene Ontology)
Protein Summary
DAW1 is a 25.6 kDa cytoplasmic protein (223 amino acids) that functions as a dynein assembly factor. It is required for the preassembly of outer dynein arm complexes in the cytoplasm before their transport to the ciliary axoneme. The protein contains a coiled-coil domain and interacts with other assembly factors such as DNAAF1 and DNAAF3. Loss of DAW1 leads to absence of outer dynein arms and immotile cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAW1 Knockout HEK293 Cell Line | EDJ-KQ13094 | Human | 164781 | Details Get a Quote |
| DAW1 Knockout A-549 Cell Line | EDJ-KQ42383 | Human | 164781 | Details Get a Quote |
| DAW1 Knockout HeLa Cell Line | EDJ-KQ58881 | Human | 164781 | Details Get a Quote |
| DAW1 Knockout HCT 116 Cell Line | EDJ-KQ75764 | Human | 164781 | Details Get a Quote |
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