SAXO1: Stabilizer of Axonemal Microtubules 1
A gene encoding a protein involved in ciliary and flagellar stability, linked to primary ciliary dyskinesia and spermatogenic failure.
Gene Information Card
| Symbol | SAXO1 |
|---|---|
| Full Name | Stabilizer of Axonemal Microtubules 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 115098 ncbi.nlm.nih.gov/gene/115098 |
| Ensembl ID | ENSG00000164815 |
| UniProt ID | Q8N3U4 |
| OMIM ID | 615854 |
| HGNC ID | 18090 |
| Aliases | FLJ32871, MGC138290, dJ1181N3.1 |
Description
SAXO1 (Stabilizer of Axonemal Microtubules 1) encodes a protein that localizes to the axoneme of cilia and flagella, where it stabilizes microtubule doublets. It is essential for proper ciliary motility and sperm flagellar function. Mutations in SAXO1 are associated with primary ciliary dyskinesia (PCD) and male infertility due to spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss-of-function mutations impair axonemal microtubule stability, leading to defective ciliary motility. | ClinVar, OMIM |
| Spermatogenic failure 47 | Biallelic mutations disrupt flagellar axoneme integrity, causing asthenozoospermia and infertility. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Fallopian tube | 8.1 | Medium |
| Lung | 5.3 | Medium |
| Brain | 2.1 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 12.4 | Ciliated retinal pigment epithelial cells |
| A549 | 6.7 | Lung carcinoma cell line |
| HeLa | 3.2 | Cervical adenocarcinoma |
| HEK293 | 1.5 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Ter) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1543G>A (p.Gly515Arg) | Missense | Rare | Likely loss of function; disrupts microtubule binding |
| c.1975_1976del (p.Leu659ValfsTer3) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt axonemal microtubule stabilization, leading to ciliary dyskinesia and spermatogenic failure.
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)
Pathways
• Ciliary motility
• Spermatogenesis
• Microtubule cytoskeleton organization
Protein Summary
SAXO1 is a 759-amino acid protein that stabilizes axonemal microtubules in cilia and flagella. It contains multiple coiled-coil domains and localizes along the axoneme. The protein is highly expressed in testis and ciliated epithelia. Loss of SAXO1 function results in impaired ciliary beating and sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAXO1 Knockout HEK293 Cell Line | EDJ-KQ15169 | Human | 158297 | Details Get a Quote |
| SAXO1 Knockout HeLa Cell Line | EDJ-KQ58782 | Human | 158297 | Details Get a Quote |
| SAXO1 Knockout A-549 Cell Line | EDJ-KQ67264 | Human | 158297 | Details Get a Quote |
| SAXO1 Knockout HCT 116 Cell Line | EDJ-KQ75663 | Human | 158297 | Details Get a Quote |
