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GeneE
6 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DAW1
dynein assembly factor with WD repeats 1
Chromosome 2 Β· 2q36.3
NCBI Gene: 164781Ensembl: ENSG00000123977.11HGNC: HGNC:26383UniProt: A0A140VKH6
14PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingciliary basal bodySCF ubiquitin ligase complexubiquitin-like ligase-substrate adaptor activityciliary dyskinesia, primary, 52primary ciliary dyskinesiaallergic rhinitisasthma
✦AI Summary

DAW1 (dynein assembly factor with WD repeats 1) is a conserved protein required for axonemal dynein arm assembly and ciliary motility during embryonic development 1. As a homolog of Chlamydomonas ODA16, DAW1 facilitates the import and assembly of dynein complexes into axonemal microtubules, promoting robust cilia motility onset 2. DAW1 functions across diverse ciliated tissues, including Kupffer's vesicle, epidermis, and protonephridia, where it maintains ciliary function rather than cilia biogenesis per se 3. In development, DAW1 is specifically expressed in motile ciliated cells of the embryonic node and is critical for left-right axis patterning 1. Biallelic DAW1 variants cause motile ciliopathy characterized by laterality defects, congenital heart disease, and variable respiratory symptoms 1. Loss-of-function variants impair distal outer dynein arm assembly, reducing cilia-induced fluid flow 1. Notably, tissue-specific effects occur with certain missense variants: some alleles fully rescue mucociliary clearance but fail to restore left-right patterning 4. This demonstrates context-dependent hypomorphic function. DAW1 mutations typically do not cause classical primary ciliary dyskinesia despite respiratory involvement, distinguishing motile ciliopathy from primary ciliary dyskinesia, a distinction explaining why approximately 30% of ciliary dyskinesia patients lack traditional PCD diagnoses 1.

Sources cited
1
DAW1 required for axonemal dynein assembly, ciliary motility; biallelic variants cause motile ciliopathy with laterality defects; disease mechanism involves outer dynein arm assembly defects
PMID: 36074124
2
Daw1 facilitates onset of robust cilia motility during development; zebrafish without Daw1 show reduced early cilia motility with compensatory recovery; explains laterality perturbations in human DAW1 patients
PMID: 35708608
3
DAW1 ortholog required for motile cilia function in planarian; enhances dynein complex delivery; DAW1 loss causes aberrant cilia movement rather than loss of cilia; maintains homeostasis of ciliated structures
PMID: 32359074
4
DAW1 variants show tissue-specific effects; certain missense alleles rescue mucociliary flow but not left-right patterning; functionally evidence for context-dependent hypomorphic function
PMID: 41727625
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
ciliary dyskinesia, primary, 52Open Targets
0.69Moderate
primary ciliary dyskinesiaOpen Targets
0.59Moderate
allergic rhinitisOpen Targets
0.46Moderate
asthmaOpen Targets
0.41Moderate
Eczematoid dermatitisOpen Targets
0.41Moderate
allergic diseaseOpen Targets
0.40Weak
dementiaOpen Targets
0.38Weak
ovarian neoplasmOpen Targets
0.33Weak
childhood onset asthmaOpen Targets
0.33Weak
respiratory system diseaseOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.31Weak
deep vein thrombosisOpen Targets
0.30Weak
Abnormal thrombosisOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.20Weak
visceral heterotaxyOpen Targets
0.20Weak
ciliopathyOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.10Weak
HeterotaxiaOpen Targets
0.09Suggestive
trigeminal nerve diseaseOpen Targets
0.08Suggestive
intestinal obstructionOpen Targets
0.07Suggestive
Ciliary dyskinesia, primary, 52UniProt
Pathogenic Variants5
NM_178821.3(DAW1):c.1116G>T (p.Trp372Cys)Pathogenic
Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 52
β˜†β˜†β˜†β˜†2024β†’ Residue 372
NM_178821.3(DAW1):c.197T>A (p.Leu66Ter)Pathogenic
Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 52
β˜†β˜†β˜†β˜†2023β†’ Residue 66
NM_178821.3(DAW1):c.1091G>C (p.Ser364Thr)Pathogenic
Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 52
β˜†β˜†β˜†β˜†2023β†’ Residue 364
NM_178821.3(DAW1):c.357G>A (p.Trp119Ter)Pathogenic
Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 52
β˜†β˜†β˜†β˜†2023β†’ Residue 119
NM_178821.3(DAW1):c.427A>G (p.Asn143Asp)Pathogenic
Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 52
β˜†β˜†β˜†β˜†2023β†’ Residue 143
View on ClinVar β†—
Related Genes
LSM7Protein interaction100%PRPF3Protein interaction100%PRPF8Protein interaction100%PRPF6Protein interaction100%SART1Protein interaction100%PRPF31Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
99%
Ovary
8%
Liver
5%
Bone Marrow
3%
Heart
0%
Gene Interaction Network
Click a node to explore
DAW1LSM7PRPF3PRPF8PRPF6SART1PRPF31
PROTEIN STRUCTURE
Preparing viewer…
PDB5NNZ Β· 2.65 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.67–1.13]
RankingsWhere DAW1 stands among ~20K protein-coding genes
  • #15,843of 20,598
    Most Researched14
  • #3,647of 5,498
    Most Pathogenic Variants5
  • #11,728of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedDAW1
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
Daw1 regulates the timely onset of cilia motility during development.
PMID: 35708608
Development Β· 2022
1.00
2
Dynein assembly factor with WD repeat domains 1 (DAW1) is required for the function of motile cilia in the planarian Schmidtea mediterranea.
PMID: 32359074
Dev Growth Differ Β· 2020
0.83
3
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
PMID: 36074124
Genet Med Β· 2022
0.67
4
Biallelic DAW1 variants reveal tissue-specific role in heterotaxy without primary ciliary dyskinesia.
PMID: 41727625
Res Sq Β· 2026
0.50
5
Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.
PMID: 41646686
medRxiv Β· 2026
0.33