SPINT1 Gene Summary [Human]
The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SPINT1 |
| Official Name | serine peptidase inhibitor, Kunitz type 1 [Source:HGNC Symbol;Acc:HGNC:11246] |
| Ensembl ID | ENSG00000166145 |
| Bio databases IDs | |
| Aliases | serine peptidase inhibitor, Kunitz type 1 |
| Synonyms | HAI, HAI-1, MANSC2, serine peptidase inhibitor, Kunitz type 1, serine protease inhibitor, Kunitz type 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 SPINT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Kunitz/Bovine pancreatic trypsin inhibitor (BPTI) domain
- MANEC domain
- serine protease inhibitor activity
- transmembrane domain
- LDLa
- central domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- tumorigenesis
- colorectal cancer
- colorectal carcinoma
- colorectal carcinomagenesis
- dry skin
- ovarian cancer
- growth failure
- familial adenomatous polyposis
role in cell
- proliferation
- apoptosis
- molecular cleavage in
- phosphorylation in
- migration
- abnormal morphology
- organization
- differentiation
- spreading in
- shedding in
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
- membrane fraction
- Cytoplasm
- cell surface
- cell borders
- cellular membrane
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPINT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- placenta blood vessel development
- neural tube closure
- cellular response to BMP stimulus
- branching involved in labyrinthine layer morphogenesis
- positive regulation of glial cell differentiation
- extracellular matrix organization
- epidermis development
- negative regulation of neural precursor cell proliferation
- epithelium development
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- cytoplasm
- membrane
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity