DNAAF1 Gene: Dynein Axonemal Assembly Factor 1
Essential for Ciliary Motility and Associated with Primary Ciliary Dyskinesia
Gene Information Card
| Symbol | DNAAF1 |
|---|---|
| Full Name | Dynein Axonemal Assembly Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 123872 ncbi.nlm.nih.gov/gene/123872 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q8NEP3 |
| OMIM ID | 613190 |
| HGNC ID | 30539 |
| Aliases | LRRC50, CILD19, ODA8 |
Description
DNAAF1 (dynein axonemal assembly factor 1) encodes a protein involved in the preassembly of dynein arm complexes in the cytoplasm before their transport into cilia. This gene is essential for proper ciliary motility; loss-of-function mutations cause primary ciliary dyskinesia (PCD) with defects in outer and inner dynein arms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 19 (CILD19) | Loss-of-function mutations in DNAAF1 impair dynein arm assembly, leading to immotile cilia and defective mucociliary clearance. | ClinVar, OMIM |
| Primary Ciliary Dyskinesia (general) | DNAAF1 variants are a known cause of PCD with situs inversus (Kartagener syndrome) in some cases. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 8.5 | Low |
| Trachea | 7.1 | Low |
| Fallopian tube | 6.8 | Low |
| Brain (cerebellum) | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 4.3 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Not detected |
| K-562 (leukemia) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1306C>T (p.Arg436*) | Nonsense | Rare | Premature stop; loss of function |
| c.1000_1001del (p.Leu334Glufs*3) | Frameshift deletion | Rare | Truncated protein; loss of function |
| c.1645G>A (p.Gly549Arg) | Missense | Rare | Impaired dynein assembly; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most reported DNAAF1 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absent or nonfunctional protein and defective ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DNAAF1.
Dominant Negative (DN)
No dominant-negative mechanisms are described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • outer dynein arm assembly (GO:0036158) | • inner dynein arm assembly (GO:0036159) |
| • epithelial cilium movement (GO:0003351) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) |
Pathways
• KEGG: hsa04550 – Signaling pathways regulating pluripotency of stem cells (indirect)
• Reactome: R-HSA-5620920 – Cargo trafficking to the periciliary membrane
Protein Summary
DNAAF1 (also known as LRRC50) is a cytoplasmic protein containing leucine-rich repeats. It functions as a dynein axonemal assembly factor, facilitating the formation of dynein arm complexes in the cytoplasm prior to their transport into the cilium. Defects in this protein result in primary ciliary dyskinesia due to loss of outer and inner dynein arms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF1 Knockout HEK293 Cell Line | EDJ-KQ8327 | Human | 123872 | Details Get a Quote |
| DNAAF19 Knockout HEK293 Cell Line | EDJ-KQ12774 | Human | 388389 | Details Get a Quote |
| DNAAF11 Knockout HEK293 Cell Line | EDJ-KQ13171 | Human | 23639 | Details Get a Quote |
| DNAAF19 Knockout HeLa Cell Line | EDJ-KQ40646 | Human | 388389 | Details Get a Quote |
| DNAAF19 Knockout A-549 Cell Line | EDJ-KQ41907 | Human | 388389 | Details Get a Quote |
| DNAAF19 Knockout HCT 116 Cell Line | EDJ-KQ41908 | Human | 388389 | Details Get a Quote |
| DNAAF11 Knockout A-549 Cell Line | EDJ-KQ42523 | Human | 23639 | Details Get a Quote |
| DNAAF11 Knockout HCT 116 Cell Line | EDJ-KQ42524 | Human | 23639 | Details Get a Quote |
| DNAAF11 Knockout HeLa Cell Line | EDJ-KQ42525 | Human | 23639 | Details Get a Quote |
| DNAAF1 Knockout HeLa Cell Line | EDJ-KQ58123 | Human | 123872 | Details Get a Quote |
| DNAAF1 Knockout A-549 Cell Line | EDJ-KQ66609 | Human | 123872 | Details Get a Quote |
| DNAAF1 Knockout HCT 116 Cell Line | EDJ-KQ75027 | Human | 123872 | Details Get a Quote |
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