CFAP45: Cilia and Flagella Associated Protein 45
A key component of the axonemal dynein regulatory complex, implicated in primary ciliary dyskinesia and male infertility.
Gene Information Card
| Symbol | CFAP45 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 45 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 124936 ncbi.nlm.nih.gov/gene/124936 |
| Ensembl ID | ENSG00000143179 |
| UniProt ID | Q8N8J0 |
| OMIM ID | 617958 |
| HGNC ID | 26732 |
| Aliases | CCDC19, coiled-coil domain containing 19 |
Description
CFAP45 (Cilia and Flagella Associated Protein 45), also known as CCDC19, encodes a protein localized to the axoneme of cilia and flagella. It is a component of the dynein regulatory complex (DRC) and is essential for proper ciliary motility. Loss-of-function mutations in CFAP45 cause primary ciliary dyskinesia (PCD) with situs inversus and male infertility due to defective sperm flagella.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia 47 (PCD47) | Loss-of-function mutations disrupt the dynein regulatory complex, impairing ciliary beat frequency and waveform. | ClinVar, OMIM |
| Male infertility (asthenozoospermia) | Defective CFAP45 leads to abnormal sperm flagellar structure and motility. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 8.5 | Low |
| Trachea | 7.1 | Low |
| Fallopian tube | 6.3 | Low |
| Brain (cerebellum) | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 12.4 | Ciliated epithelial cell line |
| BEAS-2B | 9.8 | Bronchial epithelial cell line |
| HeLa | 1.2 | Low 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.494_495del (p.Lys165Argfs*3) | Frameshift | Rare | Loss of function; associated with PCD |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Likely loss of function; reported in PCD |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that truncate or destabilize the CFAP45 protein, leading to defective ciliary motility.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
None reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • cilium (GO:0005929) |
| • outer dynein arm (GO:0036157) | • cilium-dependent cell motility (GO:0060285) |
| • spermatid development (GO:0007286) |
Pathways
• Cilium assembly (REACT:115789)
• Axonemal dynein complex assembly (REACT:115790)
Protein Summary
CFAP45 is a 45 kDa coiled-coil protein that localizes to the axoneme of cilia and flagella. It is a structural component of the dynein regulatory complex (DRC), which controls the activity of dynein arms to generate coordinated ciliary beating. The protein is highly expressed in tissues with motile cilia, such as the respiratory tract and testis. Mutations in CFAP45 cause primary ciliary dyskinesia (PCD) with situs inversus and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP45 Knockout HEK293 Cell Line | EDJ-KQ7542 | Human | 25790 | Details Get a Quote |
| CFAP45 Knockout A-549 Cell Line | EDJ-KQ34150 | Human | 25790 | Details Get a Quote |
| CFAP45 Knockout HCT 116 Cell Line | EDJ-KQ34152 | Human | 25790 | Details Get a Quote |
| CFAP45 Knockout HeLa Cell Line | EDJ-KQ34153 | Human | 25790 | Details Get a Quote |
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