CFAP43: Cilia and Flagella Associated Protein 43
A key gene in ciliary motility and spermatogenesis, associated with primary ciliary dyskinesia and male infertility.
Gene Information Card
| Symbol | CFAP43 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 43 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.1 |
| NCBI Gene ID | 80217 ncbi.nlm.nih.gov/gene/80217 |
| Ensembl ID | ENSG00000165801 |
| UniProt ID | Q8IYF4 |
| OMIM ID | 617558 |
| HGNC ID | 26266 |
| Aliases | WDR96, C10orf79, bA157L14.2 |
Description
CFAP43 (Cilia and Flagella Associated Protein 43) encodes a protein containing WD40 repeats, localized to the axoneme of cilia and flagella. It is essential for the assembly and function of the radial spoke complex, which regulates ciliary motility. Loss-of-function mutations in CFAP43 cause primary ciliary dyskinesia (PCD) with situs inversus and severe male infertility due to sperm flagellar defects. The gene is highly expressed in testis and respiratory epithelial cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 46 (CILD46) | Loss-of-function mutations disrupt radial spoke assembly, impairing ciliary motility and mucociliary clearance. | OMIM #617558; ClinVar; PMID: 28991691 |
| Spermatogenic Failure 32 (SPGF32) | Defective sperm flagellar axoneme leads to asthenozoospermia and infertility. | OMIM #618153; ClinVar; PMID: 28991691 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Fallopian tube | 8.2 | Medium |
| Lung | 6.1 | Medium |
| Trachea | 5.8 | Medium |
| Brain | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.3 | Ciliated retinal pigment epithelial cells |
| BEAS-2B | 12.7 | Bronchial epithelial cells |
| HeLa | 0.8 | Non-ciliated cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.901C>T (p.Arg301*) | Nonsense | Rare | Loss of function; truncation of WD40 repeats |
| c.1234_1235del (p.Leu412Valfs*2) | Frameshift | Rare | Loss of function; premature stop codon |
| c.2345G>A (p.Arg782Gln) | Missense | Rare | Likely loss of function; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Most CFAP43 mutations are loss-of-function, leading to truncated or unstable protein, impairing radial spoke assembly and ciliary/flagellar motility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • cilium (GO:0005929) |
| • motile cilium (GO:0031514) | • protein binding (GO:0005515) |
| • cilium movement (GO:0003341) | • spermatid development (GO:0007286) |
Pathways
• Ciliary motility (radial spoke assembly)
• Spermatogenesis (flagellar axoneme formation)
Protein Summary
CFAP43 is a 1002-amino acid protein with multiple WD40 repeats, localized to the axoneme of motile cilia and sperm flagella. It interacts with other radial spoke components (e.g., CFAP44) to regulate dynein-driven microtubule sliding. The protein is essential for ciliary beat frequency and sperm motility. Structural modeling suggests a beta-propeller fold that mediates protein-protein interactions within the radial spoke complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP43 Knockout HEK293 Cell Line | EDJ-KQ9490 | Human | 80217 | Details Get a Quote |
| CFAP43 Knockout HCT 116 Cell Line | EDJ-KQ36221 | Human | 80217 | Details Get a Quote |
| CFAP43 Knockout HeLa Cell Line | EDJ-KQ57310 | Human | 80217 | Details Get a Quote |
| CFAP43 Knockout A-549 Cell Line | EDJ-KQ65817 | Human | 80217 | Details Get a Quote |
