SPINK1: Serine Peptidase Inhibitor, Kazal Type 1
A key regulator of pancreatic trypsin activity and genetic factor in pancreatitis and cancer
Gene Information Card
| Symbol | SPINK1 |
|---|---|
| Full Name | Serine Peptidase Inhibitor, Kazal Type 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 6690 ncbi.nlm.nih.gov/gene/6690 |
| Ensembl ID | ENSG00000164266 |
| UniProt ID | P00995 |
| OMIM ID | 167790 |
| HGNC ID | 11244 |
| Aliases | PSTI, TATI, PCTT, Spink3 |
Description
SPINK1 encodes a serine protease inhibitor that specifically inhibits trypsin, protecting the pancreas from autodigestion. It is expressed in the pancreas and other tissues, and mutations in this gene are associated with hereditary pancreatitis and increased risk of pancreatic cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Pancreatitis | Loss-of-function mutations reduce trypsin inhibition, leading to premature trypsin activation and pancreatic autodigestion | OMIM #167800; multiple SPINK1 missense variants (e.g., p.Asn34Ser) linked to familial pancreatitis |
| Pancreatic Cancer | SPINK1 overexpression in tumor cells promotes invasion and metastasis; germline mutations increase susceptibility | COSMIC; ClinVar; PMID: 21804563 |
| Tropical Calcific Pancreatitis | SPINK1 mutations (e.g., p.Asn34Ser) are risk factors in tropical populations | OMIM; PMID: 11875115 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 1245.2 | High |
| Stomach | 12.3 | Low |
| Duodenum | 8.7 | Low |
| Liver | 1.2 | Not detected |
| Kidney | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 45.6 | Overexpressed compared to normal pancreas |
| MIA PaCa-2 (pancreatic cancer) | 38.2 | Moderate expression |
| HeLa (cervical cancer) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101A>G (p.Asn34Ser) | Missense | Common in hereditary pancreatitis | Reduced trypsin inhibitory activity |
| c.194G>A (p.Arg65His) | Missense | Rare | Impaired secretion and function |
| c.3G>C (p.Met1?) | Start loss | Very rare | Complete loss of protein |
| c.124G>A (p.Gly42Arg) | Missense | Rare | Decreased inhibitor stability |
Mutation functional classification
Loss of Function (LOF)
p.Asn34Ser, p.Arg65His, p.Met1? – reduce or abolish trypsin inhibitory capacity, leading to unchecked trypsin activity and pancreatitis.
Gain of Function (GOF)
Not reported for SPINK1; overexpression in cancer is transcriptional, not due to activating mutations.
Dominant Negative (DN)
p.Asn34Ser may act in a dominant-negative manner by forming inactive complexes with trypsin, reducing overall inhibition.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:14797 – Trypsin inhibition
• REACT:111102 – Pancreatic secretion
• REACT:111045 – Proteolysis
Protein Summary
SPINK1 (PSTI/TATI) is a 56-amino acid secreted protein that binds and inhibits trypsin with high affinity. It is produced mainly in pancreatic acinar cells and acts as a protective factor against premature trypsin activation. In cancer, SPINK1 is often overexpressed and promotes tumor cell migration and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPINK13 Knockout HEK293 Cell Line | EDJ-KQ11496 | Human | 153218 | Details Get a Quote |
| SPINK14 Knockout HEK293 Cell Line | EDJ-KQ11838 | Human | 408187 | Details Get a Quote |
| SPINK13 Knockout HeLa Cell Line | EDJ-KQ39818 | Human | 153218 | Details Get a Quote |
| SPINK1 Knockout HEK293 Cell Line | EDJ-KQ50647 | Human | 6690 | Details Get a Quote |
| SPINK1 Knockout HeLa Cell Line | EDJ-KQ54546 | Human | 6690 | Details Get a Quote |
| SPINK14 Knockout HeLa Cell Line | EDJ-KQ60353 | Human | 408187 | Details Get a Quote |
| SPINK1 Knockout A-549 Cell Line | EDJ-KQ63030 | Human | 6690 | Details Get a Quote |
| SPINK13 Knockout A-549 Cell Line | EDJ-KQ67204 | Human | 153218 | Details Get a Quote |
| SPINK14 Knockout A-549 Cell Line | EDJ-KQ68820 | Human | 408187 | Details Get a Quote |
| SPINK1 Knockout HCT 116 Cell Line | EDJ-KQ71506 | Human | 6690 | Details Get a Quote |
| SPINK13 Knockout HCT 116 Cell Line | EDJ-KQ75609 | Human | 153218 | Details Get a Quote |
| SPINK14 Knockout HCT 116 Cell Line | EDJ-KQ77184 | Human | 408187 | Details Get a Quote |
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