DNAAF11 Gene - Dynein Axonemal Assembly Factor 11
Essential for Ciliary Motility and Associated with Primary Ciliary Dyskinesia
Gene Information Card
| Symbol | DNAAF11 |
|---|---|
| Full Name | dynein axonemal assembly factor 11 |
| Gene Type | protein coding |
| Chromosomal Location | 8q24.22 |
| NCBI Gene ID | 8701 ncbi.nlm.nih.gov/gene/8701 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q8N136 |
| OMIM ID | 614838 |
| HGNC ID | 30539 |
| Aliases | PF20, CILD39, DNAAF11, FLJ23588 |
Description
DNAAF11 (dynein axonemal assembly factor 11) encodes a WD repeat-containing protein that is essential for the preassembly of dynein arm complexes in the cytoplasm before their transport into cilia. This protein is required for the formation of both outer and inner dynein arms in motile cilia. Mutations in DNAAF11 cause primary ciliary dyskinesia type 39 (CILD39), an autosomal recessive disorder characterized by chronic respiratory infections, situs inversus, and infertility due to defective ciliary motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 39 (CILD39) | Loss-of-function mutations impair dynein arm assembly, leading to immotile cilia | OMIM #618063; multiple case reports in ClinVar and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 8.5 | Low |
| Fallopian tube | 7.9 | Low |
| Brain | 3.1 | Not detected |
| Heart | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 5.4 | Retinal pigment epithelial cells, ciliated |
| A549 | 4.1 | Lung adenocarcinoma, low expression |
| HepG2 | 2.3 | Hepatocellular carcinoma, very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.742_743del (p.Leu248Valfs*2) | Frameshift deletion | Rare | Loss of function; premature stop |
| c.1285G>A (p.Gly429Arg) | Missense | Rare | Likely loss of function; disrupts WD repeat domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that lead to truncated or absent protein, resulting in defective dynein arm assembly and ciliary immotility.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAAF11.
Dominant Negative (DN)
No dominant-negative mutations reported; all known pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • outer dynein arm assembly (GO:0036158) | • inner dynein arm assembly (GO:0036159) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) |
Pathways
• Ciliary dynein arm assembly (Reactome: R-HSA-5620920)
• Cilium assembly (KEGG: hsa04550)
Protein Summary
The DNAAF11 protein (also known as PF20) contains multiple WD40 repeats that mediate protein-protein interactions. It localizes to the cytoplasm and is part of a dynein preassembly complex that chaperones axonemal dynein heavy, intermediate, and light chains before their transport into cilia. Loss of DNAAF11 function leads to absence of both outer and inner dynein arms, causing primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF11 Knockout HEK293 Cell Line | EDJ-KQ13171 | Human | 23639 | 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 |
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