SPINK1 Gene Summary [Human]
The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | SPINK1 |
| Official Name | serine peptidase inhibitor Kazal type 1 [Source:HGNC Symbol;Acc:HGNC:11244] |
| Ensembl ID | ENSG00000164266 |
| Bio databases IDs | |
| Aliases | serine peptidase inhibitor Kazal type 1 |
| Synonyms | LOC266602, p12, PCTT, PSTI, PSTI1, Psti-ii, serine peptidase inhibitor Kazal type 1, serine peptidase inhibitor, Kazal type 1, Serine Protease Inhibitor, Kazal Type 1, SPINK3, TATI, TCP |
| 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 SPINK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- endopeptidase inhibitor
- protease inhibitor
- serine protease inhibitor activity
- protein binding
- KAZAL_FS
Pathways
Biological processes and signaling networks where the SPINK1 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
- neoplasia
- hereditary chronic pancreatitis
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- systemic lupus erythematosus
- renal cell cancer
- alcoholic chronic pancreatitis
- diabetes mellitus
- chronic pancreatitis
role in cell
- phosphorylation in
- expression in
- proliferation
- colony formation
- accumulation
- abnormal morphology
- autophagy in
- capacitation
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
- Cytoplasm
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPINK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of acrosome reaction
- nitric oxide mediated signal transduction
- positive regulation of peptide hormone secretion
- positive regulation of pancreatic juice secretion
- negative regulation of calcium ion import
- elevation of cytosolic calcium ion concentration
- response to ethanol
- sperm capacitation
- cellular response to peptide hormone stimulus
- response to nutrient levels
- positive regulation of epithelial cell proliferation
- regulation of store-operated calcium entry
- negative regulation of peptidyl-tyrosine phosphorylation
- negative regulation of nitric oxide mediated signal transduction
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- endopeptidase inhibitor activity
- protein binding