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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SAGE1
sarcoma antigen 1
Chromosome X · Xq26.3
NCBI Gene: 55511Ensembl: ENSG00000181433.12HGNC: HGNC:30369UniProt: Q9NXZ1
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmnuclear bodyprotein-macromolecule adaptor activityhypertriglyceridemia 2Miyoshi myopathyfamilial hypercholesterolemiathyroid hormone metabolism, abnormal, 2
✦AI Summary

SAGE1 (Sarcoma Antigen 1) is a cancer/testis antigen normally expressed exclusively in testicular germ cells but aberrantly activated in various human cancers 1. In normal development, SAGE1 is expressed in a subset of post-pubertal germ cells, most likely B spermatogonia, supporting its role in male germ cell development 2. The protein localizes to nuclear bodies and nucleoplasm and functions as part of the integrator complex involved in snRNA 3'-end processing, suggesting a role in RNA metabolism. SAGE1 expression varies significantly across cancer types. It shows high expression in 50% of non-small cell lung cancer samples and serves as an immunogenic target, with specific T-cell receptors demonstrating antitumor efficacy in preclinical models 3. In contrast, SAGE1 is rarely expressed in breast and lung cancers when examined by immunohistochemistry 1. Among digestive tract cancers, SAGE1 is expressed in 33% of esophageal squamous cell carcinomas and their precursor lesions 4, but rarely in colorectal cancers. Clinically, SAGE1 represents a potential immunotherapeutic target due to its cancer-specific expression pattern. In multiple myeloma, SAGE1 functions downstream of the LILRB1-GATA2 pathway, promoting cell proliferation 5. The restricted expression pattern and demonstrated immunogenicity make SAGE1 a candidate for cancer vaccine development and T-cell-based immunotherapies.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
hypertriglyceridemia 2Open Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
familial hypercholesterolemiaOpen Targets
0.07Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.07Suggestive
sitosterolemia 2Open Targets
0.07Suggestive
Combined hyperlipidemiaOpen Targets
0.06Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.06Suggestive
hypercholesterolemia, autosomal dominant, 3Open Targets
0.05Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.05Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.05Suggestive
hypercholesterolemia, autosomal dominant, type BOpen Targets
0.05Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.05Suggestive
Hyperlipoproteinemia type 1Open Targets
0.05Suggestive
glycogen storage disease VIOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 5Open Targets
0.04Suggestive
hyperlipoproteinemia type VOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
coronary artery disease, autosomal dominant 2Open Targets
0.04Suggestive
Congenital chronic diarrhea with protein-losing enteropathyOpen Targets
0.03Suggestive
DiarrheaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DDX43Protein interaction87%GAGE1Protein interaction75%PRSS50Protein interaction74%MAGEC2Protein interaction74%SPA17Protein interaction74%PAGE5Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
29%
Liver
0%
Heart
0%
Lung
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
SAGE1DDX43GAGE1PRSS50MAGEC2SPA17PAGE5
PROTEIN STRUCTURE
Preparing viewer…
PDB8HPP · 3.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.80–1.24]
RankingsWhere SAGE1 stands among ~20K protein-coding genes
  • #15,986of 20,598
    Most Researched14
  • #13,120of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedSAGE1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lack of ADAM2, CALR3 and SAGE1 Cancer/Testis Antigen Expression in Lung and Breast Cancer.
PMID: 26252478
PLoS One · 2015
1.00
2
The progression of multiple myeloma is regulated by LILRB1 via the GATA2-SAGE1 pathway.
PMID: 40415416
Br J Haematol · 2025
0.90
3
SAGE1: a Potential Target Antigen for Lung Cancer T-Cell Immunotherapy.
PMID: 34465596
Mol Cancer Ther · 2021
0.80
4
OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia.
PMID: 21706474
J Pathol · 2011
0.70
5
Pindel-TD: A Tandem Duplication Detector Based on A Pattern Growth Approach.
PMID: 38862430
Genomics Proteomics Bioinformatics · 2024
0.60