SERPINB5
Serpin Family B Member 5 (Maspin)
Gene Information Card
| Symbol | SERPINB5 |
|---|---|
| Full Name | Serpin Family B Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 5268 ncbi.nlm.nih.gov/gene/5268 |
| Ensembl ID | ENSG00000206075 |
| UniProt ID | P36952 |
| OMIM ID | 154790 |
| HGNC ID | 8949 |
| Aliases | Maspin, PI5 |
Description
SERPINB5 (maspin) is a member of the serpin family of protease inhibitors, but it lacks classical inhibitory activity against serine proteases. It functions as a tumor suppressor by inhibiting cell invasion, motility, and angiogenesis. Maspin is downregulated in many cancers, and its expression is associated with better prognosis. The gene is located on chromosome 18q21.33 and encodes a 42 kDa protein that localizes to the cytoplasm and nucleus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Loss of SERPINB5 expression correlates with increased invasion and metastasis; re-expression suppresses tumor growth. | PMID: 10521396, NCBI Gene |
| Prostate Cancer | Reduced maspin expression is associated with aggressive disease and poor prognosis. | PMID: 11468272, NCBI Gene |
| Ovarian Cancer | Maspin downregulation promotes epithelial-mesenchymal transition and metastasis. | PMID: 15604208, NCBI Gene |
| Colorectal Cancer | Low maspin levels are linked to advanced stage and lymph node metastasis. | PMID: 17975119, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Prostate | 8.3 | Low |
| Ovary | 6.7 | Low |
| Colon | 5.1 | Low |
| Lung | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | Moderate expression |
| PC3 (prostate cancer) | 2.1 | Low expression |
| OVCAR3 (ovarian cancer) | 4.8 | Low expression |
| HT29 (colorectal cancer) | 1.5 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of start codon; functional impact unknown |
| c.374C>T (p.Thr125Met) | Missense | <0.1% | Rare variant; no known disease association |
| c.689G>A (p.Arg230His) | Missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss of maspin expression due to promoter methylation or deletion is common in cancers and correlates with invasive phenotype.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • protease binding | • serine-type endopeptidase inhibitor activity |
| • extracellular matrix organization | • negative regulation of cell migration |
| • negative regulation of angiogenesis | • cytoplasm |
| • nucleus |
Pathways
• p53 signaling pathway (Reactome: R-HSA-3700989)
• Tumor suppressor activity (KEGG: hsa05200)
Protein Summary
Maspin is a 375-amino-acid protein (42 kDa) belonging to the serpin superfamily. It lacks classical inhibitory activity but regulates cell adhesion, motility, and angiogenesis. Maspin interacts with integrins and collagen, and its nuclear localization is required for tumor suppression. It is frequently lost in invasive cancers and is considered a biomarker for prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINB5 Knockout HEK293 Cell Line | EDJ-KQ1396 | Human | 5268 | Details Get a Quote |
| SERPINB5 Knockout HCT 116 Cell Line | EDJ-KQ22217 | Human | 5268 | Details Get a Quote |
| SERPINB5 Knockout HeLa Cell Line | EDJ-KQ22218 | Human | 5268 | Details Get a Quote |
| SERPINB5 Knockout A-549 Cell Line | EDJ-KQ62627 | Human | 5268 | Details Get a Quote |