SERPING1
Serpin Family G Member 1 (C1 Inhibitor)
Gene Information Card
| Symbol | SERPING1 |
|---|---|
| Full Name | Serpin Family G Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 710 ncbi.nlm.nih.gov/gene/710 |
| Ensembl ID | ENSG00000149131 |
| UniProt ID | P05155 |
| OMIM ID | 606860 |
| HGNC ID | 1228 |
| Aliases | C1IN, C1NH, HAE1, HAE2 |
Description
SERPING1 encodes the C1 inhibitor (C1-INH), a serine protease inhibitor (serpin) that regulates the complement system (C1r, C1s), contact system (kallikrein, factor XII), and coagulation (factor XI, plasmin). Deficiency or dysfunction leads to uncontrolled bradykinin production, causing hereditary angioedema (HAE).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary angioedema type I | Loss-of-function mutations reduce C1-INH protein levels | ClinVar, OMIM |
| Hereditary angioedema type II | Missense mutations produce dysfunctional C1-INH | ClinVar, OMIM |
| Angioedema (acquired) | Autoantibodies or consumption of C1-INH | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Plasma | N/A | High (secreted) |
| Adipose tissue | 3.2 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte line |
| HUVEC | 2.5 | Endothelial cells |
| THP-1 | 1.0 | Monocyte line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.550C>T (p.Arg184Cys) | Missense | Common in HAE type II | Dysfunctional protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein |
| c.51+1G>A | Splice donor | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most HAE type I mutations (nonsense, frameshift, splice) lead to reduced C1-INH activity.
Gain of Function (GOF)
Not described for SERPING1.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg184Cys) produce a dysfunctional protein that interferes with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • complement activation |
| • classical pathway | • negative regulation of complement activation |
| • kallikrein-kinin cascade | • extracellular space |
Pathways
• Complement cascade (classical pathway)
• Kallikrein-kinin system
• Blood coagulation (intrinsic pathway)
Protein Summary
C1 inhibitor (C1-INH) is a 105 kDa glycoprotein secreted primarily by the liver. It inhibits C1r and C1s proteases of the complement system, as well as kallikrein, factor XIIa, and factor XIa. Its reactive center loop (RCL) is cleaved by target proteases, forming a covalent complex. Deficiency leads to bradykinin-mediated angioedema.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPING1 Knockout HEK293 Cell Line | EDJ-KQ4157 | Human | 710 | Details Get a Quote |
| SERPING1 Knockout HCT 116 Cell Line | EDJ-KQ25264 | Human | 710 | Details Get a Quote |
| SERPING1 Knockout HeLa Cell Line | EDJ-KQ26597 | Human | 710 | Details Get a Quote |
| SERPING1 Knockout A-549 Cell Line | EDJ-KQ61211 | Human | 710 | Details Get a Quote |
