DNAAF19: Dynein Axonemal Assembly Factor 19
Key regulator of ciliary motility and dynein arm assembly
Gene Information Card
| Symbol | DNAAF19 |
|---|---|
| Full Name | Dynein Axonemal Assembly Factor 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q5T655 |
| OMIM ID | 617577 |
| HGNC ID | 26706 |
| Aliases | CFAP45, CCDC19, FLJ45831 |
Description
DNAAF19 (dynein axonemal assembly factor 19) encodes a protein essential for the assembly of axonemal dynein arms in cilia. It is required for proper ciliary motility and is implicated in primary ciliary dyskinesia (PCD). The protein localizes to the cytoplasm and is involved in preassembly of dynein complexes before transport to cilia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 46 | Loss of DNAAF19 function disrupts dynein arm assembly, impairing ciliary motility | ClinVar, OMIM |
| Primary Ciliary Dyskinesia (general) | Defects in axonemal dynein assembly lead to impaired mucociliary clearance | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Fallopian tube | 7.1 | Low |
| Brain | 1.5 | Not detected |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.0 | Not expressed |
| K-562 | 0.0 | Not expressed |
| hTERT-RPE1 | 5.3 | Low expression |
| Ciliated airway epithelial cells | 15.0 | Medium 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; associated with PCD |
| c.1000_1001del (p.Leu334fs) | Frameshift | Rare | Loss of function; associated with PCD |
| c.158G>A (p.Arg53His) | Missense | Unknown | Likely damaging; reported in PCD patients |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing dynein arm assembly defects and primary ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Axonemal dynein assembly (Reactome: R-HSA-5620916)
Protein Summary
DNAAF19 (CFAP45) is a cytoplasmic protein of 584 amino acids that functions as a dynein axonemal assembly factor. It is required for the preassembly of outer and inner dynein arms before their transport into cilia. Loss of function leads to primary ciliary dyskinesia with defective mucociliary clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF19 Knockout HEK293 Cell Line | EDJ-KQ12774 | Human | 388389 | 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 |
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