SART1: Squamous Cell Carcinoma Antigen Recognized by T Cells 1
A key RNA splicing factor and tumor antigen involved in spliceosome assembly and cancer immunity.
Gene Information Card
| Symbol | SART1 |
|---|---|
| Full Name | Squamous Cell Carcinoma Antigen Recognized by T Cells 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 9092 ncbi.nlm.nih.gov/gene/9092 |
| Ensembl ID | ENSG00000165416 |
| UniProt ID | Q43290 |
| OMIM ID | 605941 |
| HGNC ID | 10535 |
| Aliases | SART1-259, SART1-800, HOM-TES-103, SART1-259-800, SART1-259-800-1 |
Description
SART1 (Squamous Cell Carcinoma Antigen Recognized by T Cells 1) encodes a protein that functions as an RNA splicing factor and is a component of the U4/U6.U5 tri-snRNP complex, essential for spliceosome assembly. It is also recognized as a tumor antigen by cytotoxic T lymphocytes in various cancers, including squamous cell carcinomas. The gene is located on chromosome 11q13.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma | SART1 is a tumor antigen recognized by CTLs; overexpression may contribute to immune evasion or recognition. | PMID: 10397745, NCBI Gene |
| Hepatocellular carcinoma | SART1 expression is associated with poor prognosis and may promote tumor progression via splicing regulation. | PMID: 23467473 |
| Breast cancer | SART1 is overexpressed and linked to cell proliferation and migration. | PMID: 25636847 |
| Lung cancer | SART1 expression correlates with tumor stage and may serve as a prognostic marker. | PMID: 21573172 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Spleen | 6.8 | Medium |
| Lung | 5.4 | Low |
| Liver | 4.9 | Low |
| Breast | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 12.1 | Lung cancer cell line |
| MCF7 | 10.8 | Breast cancer cell line |
| HepG2 | 9.5 | Hepatocellular carcinoma cell line |
| K562 | 8.7 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.1456_1457insA (p.Thr486Asnfs*5) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1456_1457insA) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No gain-of-function mutations have been reported in SART1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SART1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The SART1 protein (UniProt Q43290) is a 800-amino acid polypeptide that localizes to the nucleus and is a core component of the U4/U6.U5 tri-snRNP complex, which is essential for pre-mRNA splicing. It contains a coiled-coil domain and interacts with other spliceosomal proteins. SART1 is also recognized as a tumor antigen, eliciting cytotoxic T lymphocyte responses in cancer patients. Its expression is elevated in various malignancies, suggesting a role in tumor biology beyond splicing.
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