SERPING1 Gene Summary [Human]
This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]
Details
| Type | Protein Coding |
| Official Symbol | SERPING1 |
| Official Name | serpin family G member 1 [Source:HGNC Symbol;Acc:HGNC:1228] |
| Ensembl ID | ENSG00000149131 |
| Bio databases IDs | |
| Aliases | serpin family G member 1, plasma protease C1 inhibitor, angioedema, hereditary, C1-inhibitor |
| Synonyms | C1 esterase inhibitor precursor, C1-IA, C1INH, C1INH., C1 Inhibitor, C1-inhibitor precursor, C1 INH precursor, C1NH, complement C1-esterase inhibitor precursor, Complement C1 Inhibitor, complement C1-inhibitor precursor, HAE1, HAE2, PPC1I, serine (or cysteine) peptidase inhibitor, clade G, member 1, serpin family G member 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SERPING1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SERine Proteinase INhibitors (serpin) family
- serine protease inhibitor activity
- protein binding
- Serpin (serine protease inhibitor)
Pathways
Biological processes and signaling networks where the SERPING1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- prostate cancer
- epithelial cancer
- hereditary disorder
- hereditary angioedema
- liver cancer
- urothelial bladder carcinoma
- transitional cell bladder cancer
- hereditary angioedema type I
- lung squamous cell carcinoma
- squamous cell lung cancer
role in cell
- cellular infiltration by
- expression in
- binding
- quantity
- activation
- adhesion
- degradation in
- breakdown
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cell surface
- endoplasmic reticulum lumen
- alpha granules
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SERPING1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- complement activation, classical pathway
- innate immune response
- negative regulation of complement activation, lectin pathway
- blood circulation
- negative regulation of endopeptidase activity
- blood coagulation
- fibrinolysis
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule lumen
- endoplasmic reticulum lumen
- extracellular space
- extracellular vesicular exosome
- blood microparticle
- extracellular region
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- protein binding