SERPINB3
Serpin Family B Member 3 (Squamous Cell Carcinoma Antigen 1)
Gene Information Card
| Symbol | SERPINB3 |
|---|---|
| Full Name | Serpin Family B Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 6317 ncbi.nlm.nih.gov/gene/6317 |
| Ensembl ID | ENSG00000057149 |
| UniProt ID | P29508 |
| OMIM ID | 600517 |
| HGNC ID | 10570 |
| Aliases | SCCA1, SCCA-1, T4-A, HsT1196 |
Description
SERPINB3 encodes a member of the serpin family of protease inhibitors, specifically the squamous cell carcinoma antigen (SCCA) subtype 1. This protein inhibits cysteine and serine proteases, including cathepsins K, L, and S, and is involved in cellular processes such as apoptosis, immune modulation, and extracellular matrix remodeling. Overexpression is frequently observed in squamous cell carcinomas and is used as a serum biomarker for disease monitoring.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma (various sites) | Overexpression of SERPINB3 inhibits apoptosis and promotes tumor cell survival; acts as a serpin to protect cancer cells from immune-mediated killing. | ClinVar, COSMIC, literature |
| Hepatocellular carcinoma | Elevated SERPINB3 expression correlates with poor prognosis; may contribute to fibrosis and tumor progression via inhibition of cathepsin activity. | NCBI Gene, OMIM |
| Cervical cancer | SERPINB3 is a well-established serum biomarker (SCCA) for squamous cell cervical carcinoma; levels correlate with tumor burden and recurrence. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Medium |
| Cervix, uterine | 6.7 | Medium |
| Lung | 4.2 | Low |
| Liver | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A431 (epidermoid carcinoma) | 15.0 | High expression; commonly used as positive control |
| HeLa (cervical adenocarcinoma) | 9.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.715G>A (p.Gly239Arg) | Missense | <0.1% | Reported in COSMIC; functional impact unknown |
| c.1073C>T (p.Thr358Met) | Missense | <0.1% | Observed in squamous cell carcinoma; may alter protease inhibition |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in tumors is considered a gain-of-function phenotype, but specific activating mutations are not documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • cysteine-type endopeptidase inhibitor activity |
| • protease binding | • extracellular space |
| • cytoplasm | • negative regulation of endopeptidase activity |
| • negative regulation of apoptotic process |
Pathways
• Serpin family pathway (Reactome: R-HSA-9824597)
• Protease inhibition (UniProt: P29508)
Protein Summary
SERPINB3 is a 390-amino-acid glycoprotein (45 kDa) belonging to the clade B serpin family. It functions as a cross-class inhibitor of both cysteine (cathepsins K, L, S) and serine proteases. The protein is secreted and localizes to the extracellular space, where it modulates inflammation, tissue remodeling, and tumor immune evasion. Its expression is induced by oxidative stress and cytokines such as TNF-alpha.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINB3 Knockout HEK293 Cell Line | EDJ-KQ50610 | Human | 6317 | Details Get a Quote |
| SERPINB3 Knockout HeLa Cell Line | EDJ-KQ54394 | Human | 6317 | Details Get a Quote |
| SERPINB3 Knockout A-549 Cell Line | EDJ-KQ62886 | Human | 6317 | Details Get a Quote |
| SERPINB3 Knockout HCT 116 Cell Line | EDJ-KQ71352 | Human | 6317 | Details Get a Quote |
