CFAP100: Cilia and Flagella Associated Protein 100
A key component of the radial spoke complex in motile cilia, associated with primary ciliary dyskinesia.
Gene Information Card
| Symbol | CFAP100 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 100 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 124944 ncbi.nlm.nih.gov/gene/124944 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q8TCQ1 |
| OMIM ID | 619120 |
| HGNC ID | 26964 |
| Aliases | C3orf26, MGC13125, FLJ21908 |
Description
CFAP100 encodes a protein localized to the radial spoke complex of motile cilia and flagella. It is essential for proper ciliary motility and axonemal structure. Mutations in CFAP100 cause primary ciliary dyskinesia (PCD) with defects in radial spoke assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations disrupt radial spoke assembly, impairing ciliary motility. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary motility during embryonic development can lead to randomization of left-right body asymmetry. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.1 | Low |
| Fallopian Tube | 6.8 | Low |
| Brain (cerebellum) | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 5.3 | Low expression |
| BEAS-2B (bronchial) | 4.1 | Low expression |
| HepG2 (liver) | 0.8 | Not detected |
| K562 (leukemia) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature termination |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Likely damaging; disrupts radial spoke binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of CFAP100 function, leading to radial spoke defects and 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) | • axoneme (GO:0035082) |
| • cilium (GO:0005929) | • radial spoke (GO:0001530) |
| • cilium movement (GO:0003341) | • protein binding (GO:0005515) |
Pathways
• Cilium assembly and motility
• Radial spoke assembly
Protein Summary
CFAP100 is a 654-amino acid protein containing coiled-coil domains and a conserved radial spoke head domain. It localizes to the radial spoke complex in motile cilia and is required for proper ciliary beat frequency and waveform. The protein interacts with other radial spoke components to stabilize the axonemal structure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP100 Knockout HEK293 Cell Line | EDJ-KQ12890 | Human | 348807 | Details Get a Quote |
| CFAP100 Knockout HeLa Cell Line | EDJ-KQ59839 | Human | 348807 | Details Get a Quote |
| CFAP100 Knockout A-549 Cell Line | EDJ-KQ68305 | Human | 348807 | Details Get a Quote |
| CFAP100 Knockout HCT 116 Cell Line | EDJ-KQ76678 | Human | 348807 | Details Get a Quote |
