SERPINB10
Serpin Family B Member 10 (Bomapin)
Gene Information Card
| Symbol | SERPINB10 |
|---|---|
| Full Name | Serpin Family B Member 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 5273 ncbi.nlm.nih.gov/gene/5273 |
| Ensembl ID | ENSG00000141646 |
| UniProt ID | P48595 |
| OMIM ID | 602058 |
| HGNC ID | 8943 |
| Aliases | PI-10, bomapin, serpin B10 |
Description
SERPINB10, also known as bomapin, is a member of the serpin family of serine protease inhibitors. It is primarily expressed in bone marrow and hematopoietic cells, where it regulates proteolytic cascades involved in hematopoiesis and inflammation. The protein inhibits trypsin-like proteases and has been implicated in cancer progression, thrombosis, and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Overexpression of SERPINB10 may inhibit granzyme B-mediated apoptosis, promoting leukemic cell survival. | PMID: 23426363 |
| Prostate cancer | SERPINB10 is upregulated in prostate cancer and may contribute to metastasis by inhibiting serine proteases. | PMID: 19177216 |
| Venous thromboembolism | Polymorphisms in SERPINB10 have been associated with altered risk of thrombosis. | ClinVar: rs2232698 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 4.1 | Low |
| Liver | 2.0 | Not detected |
| Whole blood | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HL-60 (promyeloblast) | 10.8 | Moderate expression |
| HeLa (cervical) | 0.5 | Low expression |
| A549 (lung) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.01% (gnomAD) | Unknown functional effect; reported in ClinVar as VUS |
| c.2T>C (p.Met1Thr) | Start loss | <0.001% | Likely loss of function; associated with thrombophilia in one family |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Thr) are predicted to abolish protein expression, leading to loss of protease inhibition.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SERPINB10.
Dominant Negative (DN)
No dominant-negative mutations described for SERPINB10.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • protease binding |
| • cytoplasm | • extracellular exosome |
| • negative regulation of endopeptidase activity |
Pathways
• Serine protease inhibitor pathway
• Granzyme B signaling (inhibition)
Protein Summary
SERPINB10 (bomapin) is a 397-amino-acid intracellular serpin that inhibits trypsin-like serine proteases, including granzyme B and trypsin. It contains a reactive center loop (RCL) with a P1-P1' Arg-Ser bond. The protein is predominantly cytoplasmic and is highly expressed in hematopoietic tissues. Its dysregulation is linked to leukemia and solid tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINB10 Knockout HEK293 Cell Line | EDJ-KQ50514 | Human | 5273 | Details Get a Quote |
| SERPINB10 Knockout HeLa Cell Line | EDJ-KQ54137 | Human | 5273 | Details Get a Quote |
| SERPINB10 Knockout A-549 Cell Line | EDJ-KQ62628 | Human | 5273 | Details Get a Quote |
| SERPINB10 Knockout HCT 116 Cell Line | EDJ-KQ71098 | Human | 5273 | Details Get a Quote |
