SAGE1
Sarcoma Antigen 1: A Cancer/Testis Antigen with Potential in Immunotherapy
Gene Information Card
| Symbol | SAGE1 |
|---|---|
| Full Name | Sarcoma Antigen 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.3 |
| NCBI Gene ID | 55511 ncbi.nlm.nih.gov/gene/55511 |
| Ensembl ID | ENSG00000184588 |
| UniProt ID | Q9NXZ1 |
| OMIM ID | 300595 |
| HGNC ID | 10526 |
| Aliases | CT14, MAGE-like protein, SAGE |
Description
SAGE1 (Sarcoma Antigen 1) is a cancer/testis antigen (CTA) gene located on the X chromosome. It encodes a protein of unknown function that is normally expressed only in testis germ cells but is aberrantly expressed in various cancers, including sarcomas, melanomas, and carcinomas. Due to its restricted normal expression and frequent re-expression in tumors, SAGE1 is considered a promising target for cancer immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sarcoma | Re-expression of SAGE1 in tumor cells; potential immune target | NCBI Gene, COSMIC |
| Melanoma | Aberrant SAGE1 expression; immunogenic epitopes identified | NCBI Gene, UniProt |
| Lung Cancer | SAGE1 mRNA detected in non-small cell lung cancer | COSMIC, NCBI Gene |
| Breast Cancer | SAGE1 expression reported in breast tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM from GTEx) |
| Other tissues | 0.0 | Not detected (nTPM from GTEx) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sarcoma cell lines | Variable | Re-expression observed in multiple sarcoma lines |
| Melanoma cell lines | Variable | Detected in subset of melanoma lines |
| Lung cancer cell lines | Variable | Detected in some NSCLC lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) likely lead to truncated protein and loss of function.
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)
| • molecular_function (not assigned) (GO:0003674) | • cellular_component (not assigned) (GO:0005575) |
| • biological_process (not assigned) (GO:0008150) |
Pathways
• No curated pathways available
Protein Summary
The SAGE1 protein is a 213-amino acid protein with no known enzymatic function. It belongs to the MAGE family of cancer/testis antigens. Its expression is normally restricted to testis germ cells, but it is re-expressed in various cancers, where it can elicit immune responses. The protein localizes to the cytoplasm and nucleus, but its exact biological role remains unclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAGE1 Knockout HEK293 Cell Line | EDJ-KQ15158 | Human | 55511 | Details Get a Quote |
| SAGE1 Knockout HeLa Cell Line | EDJ-KQ56592 | Human | 55511 | Details Get a Quote |
| SAGE1 Knockout A-549 Cell Line | EDJ-KQ65091 | Human | 55511 | Details Get a Quote |
| SAGE1 Knockout HCT 116 Cell Line | EDJ-KQ73538 | Human | 55511 | Details Get a Quote |
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