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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SAXO1
stabilizer of axonemal microtubules 1
Chromosome 9 Β· 9p22.1
NCBI Gene: 158297Ensembl: ENSG00000155875.15HGNC: HGNC:28566UniProt: B3KQ57
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmicrotubule bindingcold acclimationpositive regulation of cilium assemblyAbnormality of the skeletal systempolycystic ovary syndromeBenign Thyroid Gland Neoplasmscoliosis
✦AI Summary

SAXO1 (stabilizer of axonemal microtubules 1) is a MAP6-related microtubule-stabilizing protein specifically localized to cilia, flagella, and centrioles 1. It functions as the first characterized human member of a conserved family of proteins that stabilize cold-resistant microtubules in these organelles, filling a functional niche previously attributed solely to somatic MAP6 proteins 1. SAXO1 binds to axonemal microtubules through its Mn modules, which are essential for both microtubule stabilization and ciliary localization 1. The protein modulates axoneme length through fine regulation of its localization, indicating critical roles in cilium biogenesis and function 1. In the reproductive context, SAXO1 is expressed in testis tissue 2, and its expression is reduced in asthenozoosperm (sperm with poor motility) 3. Reduced SAXO1 levels correlate with decreased microtubule acetylation and compromised axonemal stability in infertile males, suggesting the protein contributes to sperm motility regulation 3. However, SAXO1 appears individually dispensable for male mouse fertility in knockout studies 2, indicating redundant mechanisms may compensate for its loss. SAXO1 represents a potential therapeutic target for understanding male infertility pathophysiology.

Sources cited
1
SAXO1 is a MAP6-related microtubule-stabilizing protein specific to cilia and centrioles; binds axonemal microtubules via Mn modules; modulates axoneme length
PMID: 25673876
2
SAXO1 is testis-specific; knockout mice show SAXO1 is individually dispensable for male fertility
PMID: 32814578
3
SAXO1 expression is reduced in asthenozoosperm; correlates with reduced axonemal stability and impaired sperm motility
PMID: 33200789
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.48Moderate
polycystic ovary syndromeOpen Targets
0.29Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.27Weak
scoliosisOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.18Weak
high grade ovarian serous adenocarcinomaOpen Targets
0.16Weak
prostate carcinomaOpen Targets
0.13Weak
thyroid cancerOpen Targets
0.09Suggestive
coronary artery diseaseOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.08Suggestive
thyroid neoplasmOpen Targets
0.07Suggestive
type 1 diabetes mellitusOpen Targets
0.07Suggestive
cartilage diseaseOpen Targets
0.07Suggestive
basal cell carcinomaOpen Targets
0.07Suggestive
poisoningOpen Targets
0.07Suggestive
response to xenobiotic stimulusOpen Targets
0.07Suggestive
response to antihypertensive drugOpen Targets
0.07Suggestive
gestational diabetesOpen Targets
0.06Suggestive
malignant renal pelvis neoplasmOpen Targets
0.06Suggestive
kidney diseaseOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ASDURFShared pathway33%PYURFShared pathway33%HAPSTR2Shared pathway33%PAQR4Shared pathway33%NAA30Shared pathway33%TTI2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
89%
Ovary
67%
Liver
44%
Bone Marrow
22%
Lung
22%
Gene Interaction Network
Click a node to explore
SAXO1ASDURFPYURFHAPSTR2PAQR4NAA30TTI2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5VZT6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.52LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.05 [0.74–1.52]
RankingsWhere SAXO1 stands among ~20K protein-coding genes
  • #14,248of 20,598
    Most Researched20
  • #15,298of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedSAXO1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Human FAM154A (SAXO1) is a microtubule-stabilizing protein specific to cilia and related structures.
PMID: 25673876
J Cell Sci Β· 2015
1.00
2
Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets.
PMID: 32814578
BMC Biol Β· 2020
0.67
3
Acetylation/deacetylation and microtubule associated proteins influence flagellar axonemal stability and sperm motility.
PMID: 33200789
Biosci Rep Β· 2020
0.33