SERPINB1
Serpin Family B Member 1 (Leukocyte Elastase Inhibitor)
Gene Information Card
| Symbol | SERPINB1 |
|---|---|
| Full Name | Serpin Family B Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p25.2 |
| NCBI Gene ID | 1992 ncbi.nlm.nih.gov/gene/1992 |
| Ensembl ID | ENSG00000124588 |
| UniProt ID | P30740 |
| OMIM ID | 130135 |
| HGNC ID | 1073 |
| Aliases | EI, ELANH2, LEI, MNEI, PI-2, HEL57 |
Description
SERPINB1 (serpin family B member 1) encodes a member of the serpin family of protease inhibitors. The protein inhibits neutrophil serine proteases such as elastase, cathepsin G, and proteinase-3, protecting tissues from proteolytic damage during inflammation. It is expressed in neutrophils, monocytes, and epithelial cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-1 antitrypsin deficiency (AATD) | SERPINB1 deficiency may exacerbate lung damage due to unopposed neutrophil elastase activity; however, primary mutations in SERPINB1 are not a major cause of AATD. | ClinVar, OMIM |
| Chronic obstructive pulmonary disease (COPD) | Reduced SERPINB1 expression or function may contribute to emphysema by failing to inhibit neutrophil elastase. | NCBI Gene, PubMed |
| Neutrophil-mediated inflammatory disorders | Loss-of-function variants in SERPINB1 can lead to uncontrolled protease activity and tissue injury. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Lung | 8.2 | Medium |
| Spleen | 7.1 | Medium |
| Blood | 6.8 | Medium |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyelocytic leukemia) | 15.3 | High expression; used as model for neutrophil differentiation |
| K-562 (chronic myeloid leukemia) | 9.8 | Moderate expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.374G>A (p.Arg125His) | Missense | <0.01% | Reduced inhibitory activity against elastase |
| c.829C>T (p.Arg277*) | Nonsense | Very rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein or disrupt the reactive center loop lead to loss of protease inhibitory activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SERPINB1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized; SERPINB1 functions as a monomer and haploinsufficiency may contribute to disease.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • protease binding |
| • cytoplasm | • extracellular exosome |
| • negative regulation of endopeptidase activity | • neutrophil degranulation |
Pathways
• Neutrophil degranulation (Reactome: R-HSA-6798695)
• Serpin family pathway (Reactome: R-HSA-9824597)
Protein Summary
SERPINB1 is a 42 kDa intracellular serpin that inhibits neutrophil serine proteases. It contains a reactive center loop that acts as a bait for target proteases, forming a stable covalent complex. The protein is critical for regulating proteolytic activity during inflammation and preventing tissue damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINB1 Knockout HEK293 Cell Line | EDJ-KQ1900 | Human | 1992 | Details Get a Quote |
| SERPINB13 Knockout HEK293 Cell Line | EDJ-KQ5457 | Human | 5275 | Details Get a Quote |
| SERPINB12 Knockout HEK293 Cell Line | EDJ-KQ10503 | Human | 89777 | Details Get a Quote |
| SERPINB11 Knockout HEK293 Cell Line | EDJ-KQ10510 | Human | 89778 | Details Get a Quote |
| SERPINB1 Knockout A-549 Cell Line | EDJ-KQ21806 | Human | 1992 | Details Get a Quote |
| SERPINB1 Knockout HCT 116 Cell Line | EDJ-KQ21807 | Human | 1992 | Details Get a Quote |
| SERPINB1 Knockout HeLa Cell Line | EDJ-KQ21808 | Human | 1992 | Details Get a Quote |
| 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 |
| SERPINB13 Knockout HeLa Cell Line | EDJ-KQ54138 | Human | 5275 | Details Get a Quote |
| SERPINB12 Knockout HeLa Cell Line | EDJ-KQ57735 | Human | 89777 | Details Get a Quote |
| SERPINB11 Knockout HeLa Cell Line | EDJ-KQ57736 | Human | 89778 | Details Get a Quote |
| SERPINB10 Knockout A-549 Cell Line | EDJ-KQ62628 | Human | 5273 | Details Get a Quote |
| SERPINB13 Knockout A-549 Cell Line | EDJ-KQ62629 | Human | 5275 | Details Get a Quote |
| SERPINB12 Knockout A-549 Cell Line | EDJ-KQ66231 | Human | 89777 | Details Get a Quote |
