CFAP53: Cilia- and Flagella-Associated Protein 53
A key regulator of motile cilia function and left-right asymmetry determination
Gene Information Card
| Symbol | CFAP53 |
|---|---|
| Full Name | Cilia- and Flagella-Associated Protein 53 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 220136 ncbi.nlm.nih.gov/gene/220136 |
| Ensembl ID | ENSG00000168497 |
| UniProt ID | Q6ZUT3 |
| OMIM ID | 614759 |
| HGNC ID | 26706 |
| Aliases | CCDC11, FLJ32810 |
Description
CFAP53 (Cilia- and Flagella-Associated Protein 53), also known as CCDC11, encodes a coiled-coil domain-containing protein essential for the proper function of motile cilia. The protein is localized to the axoneme and is involved in the generation of nodal flow, which establishes left-right asymmetry during embryonic development. Loss-of-function mutations in CFAP53 cause primary ciliary dyskinesia (PCD) with situs inversus (Kartagener syndrome), highlighting its critical role in ciliary motility and body plan determination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (Kartagener syndrome) | Loss-of-function mutations impair ciliary motility, leading to defective mucociliary clearance and randomization of left-right body asymmetry. | ClinVar, OMIM #614759 |
| Situs inversus totalis | Disruption of nodal ciliary flow due to CFAP53 deficiency results in reversed organ positioning. | OMIM, Narasimhan et al. 2015 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 6.8 | Low |
| Fallopian tube | 5.2 | Low |
| Brain | 2.1 | Not detected |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 8.3 | Ciliated epithelial cell line |
| A549 | 4.7 | Lung adenocarcinoma line |
| HeLa | 2.1 | Cervical carcinoma line |
| HEK293 | 1.0 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.472_473del (p.Leu158Valfs*2) | Frameshift | Rare | Truncated protein; loss of ciliary function |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic mutations in CFAP53 are loss-of-function (nonsense, frameshift, start loss), leading to absent or non-functional protein and impaired ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations have been described for CFAP53.
Dominant Negative (DN)
No dominant-negative mechanisms have been reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly (GO:0060271) | • motile cilium (GO:0031514) |
| • axoneme (GO:0005930) | • protein binding (GO:0005515) |
| • cell projection organization (GO:0030030) |
Pathways
• Ciliary motility
• Left-right axis specification
Protein Summary
CFAP53 is a 242-amino acid protein containing a coiled-coil domain. It localizes to the axoneme of motile cilia and is required for ciliary beat frequency and waveform. The protein interacts with other ciliary components to facilitate nodal flow during embryogenesis. Loss of CFAP53 function results in immotile cilia, leading to primary ciliary dyskinesia with situs inversus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP53 Knockout HEK293 Cell Line | EDJ-KQ7819 | Human | 220136 | Details Get a Quote |
| CFAP53 Knockout HCT 116 Cell Line | EDJ-KQ34656 | Human | 220136 | Details Get a Quote |
| CFAP53 Knockout HeLa Cell Line | EDJ-KQ59137 | Human | 220136 | Details Get a Quote |
| CFAP53 Knockout A-549 Cell Line | EDJ-KQ67611 | Human | 220136 | Details Get a Quote |
