SERPINB13 (Serpin Family B Member 13)
A serine protease inhibitor involved in skin barrier function and tumor suppression
Gene Information Card
| Symbol | SERPINB13 |
|---|---|
| Full Name | Serpin Family B Member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 5275 ncbi.nlm.nih.gov/gene/5275 |
| Ensembl ID | ENSG00000134339 |
| UniProt ID | Q9UIV8 |
| OMIM ID | 605201 |
| HGNC ID | 8943 |
| Aliases | HURPIN, HEADPIN, PI13 |
Description
SERPINB13 (serpin family B member 13) encodes a member of the serine protease inhibitor (serpin) superfamily. The protein inhibits cathepsin L and other papain-like cysteine proteases, playing a role in skin barrier formation, hair follicle development, and tumor suppression. It is predominantly expressed in stratified squamous epithelia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma | Loss of SERPINB13 expression may contribute to tumor progression by allowing increased protease activity and invasion. | PMID: 15161620; COSMIC |
| Psoriasis | Altered SERPINB13 expression in psoriatic skin suggests involvement in epidermal differentiation and inflammation. | PMID: 11511315 |
| Skin cancer (non-melanoma) | Reduced SERPINB13 levels correlate with malignant transformation in keratinocytes. | PMID: 15161620 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Low |
| Cervix | 6.1 | Low |
| Lung | 2.0 | Not detected |
| Breast | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.2 | High expression |
| A431 (epidermoid carcinoma) | 10.8 | Moderate expression |
| HeLa (cervical cancer) | 4.5 | Low expression |
| MCF7 (breast cancer) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | <0.1% | Likely loss of start codon; functional impact unknown |
| c.374G>A (p.Arg125His) | Missense | <0.1% | Unknown significance |
| c.973C>T (p.Arg325*) | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of function, potentially increasing protease activity and tumor susceptibility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:14797 – Serine protease inhibitor (serpin) pathway
• REACT:14798 – Regulation of keratinocyte differentiation
Protein Summary
SERPINB13 (Hurpin/Headpin) is a 42 kDa serpin that inhibits cathepsin L and related cysteine proteases. It is expressed in the upper layers of the epidermis and contributes to cornified envelope formation. Loss of expression is observed in squamous cell carcinomas, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINB13 Knockout HEK293 Cell Line | EDJ-KQ5457 | Human | 5275 | Details Get a Quote |
| SERPINB13 Knockout HeLa Cell Line | EDJ-KQ54138 | Human | 5275 | Details Get a Quote |
| SERPINB13 Knockout A-549 Cell Line | EDJ-KQ62629 | Human | 5275 | Details Get a Quote |
| SERPINB13 Knockout HCT 116 Cell Line | EDJ-KQ71099 | Human | 5275 | Details Get a Quote |
