SPINK1
Serine protease inhibitor Kazal-type 1
Also known as: ISK1_HUMAN, PCTT, PSTI, Spink3, TATI
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P00995
- Gene
- SPINK1
- Ensembl
- ENSG00000164266
- Chromosome
- 5
- Canonical length
- 79 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
- Secretome location
- Secreted to digestive system
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
79 residues, UniProt reviewed canonical sequence.
>P00995|SPINK1
1 MKVTGIFLLS ALALLSLSGN TGADSLGREA KCYNELNGCT KIYDPVCGTD GNTYPNECVL
61 CFENRKRQTS ILIQKSGPCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SPINK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 49,965 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 49,965 nTPM
- stomach: 1,627 nTPM
- urinary bladder: 930 nTPM
- liver: 687 nTPM
- rectum: 412 nTPM
- colon: 400 nTPM
Single-cell type
- pancreatic acinar cells: 38,910 nCPM
- gastric progenitor cells: 5,014 nCPM
- gastric chief cells: 3,855 nCPM
- urothelial cells: 3,389 nCPM
- foveolar cells: 3,157 nCPM
- parietal cells: 2,956 nCPM
Immune cell
- basophil: 0.3 nTPM
- neutrophil: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebral cortex: 3.4 nTPM
- white matter: 2 nTPM
- choroid plexus: 1.6 nTPM
- cerebellum: 1.5 nTPM
- thalamus: 1.5 nTPM
- pons: 1.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SPINK1.
Disease | AllUniProt
Conditions SPINK1 is implicated in, by any mechanism.
- Pancreatitis, hereditary (PCTT) MIM:167800
- Tropical calcific pancreatitis (TCP) MIM:608189
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 247 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hereditary pancreatitis
- Tropical pancreatitis
- Chronic pancreatitis
- Diabetes mellitus
- SPINK1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.13
- gnomAD pLI
- 0.31
- gnomAD missense Z
- -0.12
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- negative regulation of calcium ion import
- negative regulation of nitric oxide mediated signal transduction
- nitric oxide mediated signal transduction
- regulation of acrosome reaction
- regulation of store-operated calcium entry
- sperm capacitation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SPINK1 as an antibody target. Whether an autoantibody or antibody against SPINK1 could matter depends on whether native SPINK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SPINK1 is annotated as secreted, so native SPINK1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label SPINK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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