SERPINB7 Gene Summary [Human]
This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Details
| Type | Protein Coding |
| Official Symbol | SERPINB7 |
| Official Name | serpin family B member 7 [Source:HGNC Symbol;Acc:HGNC:13902] |
| Ensembl ID | ENSG00000166396 |
| Bio databases IDs | |
| Aliases | serpin family B member 7, megsin |
| Synonyms | 4631416M05Rik, MEGSIN, ovalbumin, PPKN, serine (or cysteine) peptidase inhibitor, clade B, member 7, serpin family B member 7, TP55 |
| 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 SERPINB7 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
- Serpin (serine protease inhibitor)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- psoriasis
- Nagashima type palmoplantar keratoderma
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
- asthma
- global developmental delay with intellectual disability
- respiratory disorder
- allergy
- allergic asthma
- epidermal hyperplasia
role in cell
- expression in
- proliferation
- quantity
- accumulation
- cellular infiltration by
- expansion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SERPINB7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transforming growth factor beta1 production
- positive regulation of collagen biosynthetic process
- positive regulation of platelet-derived growth factor production
- negative regulation of endopeptidase activity
- positive regulation of glomerular mesangial cell proliferation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity