CFAP74: Cilia- and Flagella-Associated Protein 74
A key component of the axonemal central pair apparatus essential for ciliary motility
Gene Information Card
| Symbol | CFAP74 |
|---|---|
| Full Name | Cilia- and Flagella-Associated Protein 74 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 85452 ncbi.nlm.nih.gov/gene/85452 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9C0B9 |
| OMIM ID | 619175 |
| HGNC ID | 26119 |
| Aliases | C1orf63, FLJ22662, MGC13125 |
Description
CFAP74 encodes a protein localized to the central pair of the axoneme in cilia and flagella. It is essential for the proper assembly and function of the central pair apparatus, which regulates ciliary beat frequency and waveform. Loss-of-function mutations in CFAP74 cause primary ciliary dyskinesia (PCD) with defects in ciliary motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations disrupt central pair assembly, impairing ciliary motility | ClinVar, OMIM #619175 |
| Situs Inversus Totalis (Kartagener syndrome) | Impaired ciliary motility during embryogenesis leads to random left-right body axis determination | ClinVar, OMIM #244400 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Trachea | 8.2 | Medium |
| Lung | 6.1 | Low |
| Fallopian Tube | 5.8 | Low |
| Brain (cerebellum) | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 (retinal pigment epithelium) | 8.9 | Ciliated cell line |
| BEAS-2B (bronchial epithelium) | 7.4 | Ciliated cell line |
| HeLa (cervical carcinoma) | 1.2 | Non-ciliated, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.325_326del (p.Leu109Valfs*2) | Frameshift | <0.01% | Frameshift, loss of function |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Likely damaging, disrupts central pair assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing PCD.
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)
| • cytoskeleton (GO:0005856) | • cilium (GO:0005929) |
| • axoneme (GO:0035082) | • epithelial cilium movement (GO:0003351) |
| • cilium-dependent cell motility (GO:0060285) | • cilium movement (GO:0003341) |
Pathways
• Ciliary motility (REACT:R-HSA-5620924)
• Axoneme assembly (REACT:R-HSA-5620922)
Protein Summary
CFAP74 is a 74 kDa protein that localizes to the central pair microtubules of the ciliary axoneme. It interacts with other central pair components to regulate dynein-driven microtubule sliding, thereby controlling ciliary beat frequency and waveform. The protein contains coiled-coil domains and is highly conserved in organisms with motile cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP74 Knockout HEK293 Cell Line | EDJ-KQ9612 | Human | 85452 | Details Get a Quote |
| CFAP74 Knockout HCT 116 Cell Line | EDJ-KQ37693 | Human | 85452 | Details Get a Quote |
| CFAP74 Knockout HeLa Cell Line | EDJ-KQ57719 | Human | 85452 | Details Get a Quote |
| CFAP74 Knockout A-549 Cell Line | EDJ-KQ66219 | Human | 85452 | Details Get a Quote |
