SPINK1 (serine peptidase inhibitor Kazal type 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 6690
Gene name Serine peptidase inhibitor Kazal type 1
Gene symbol SPINK1
Synonyms (NCBI Gene)
PCTTPSTISpink3TATITCP
Chromosome 5
Chromosome location 5q32
Summary 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 pa
SNPs SNP information provided by dbSNP.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
SNP ID Visualize variation Clinical significance Consequence
rs17107315 T>C Pathogenic, risk-factor, uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs17107318 A>G Risk-factor, benign Intron variant
rs104893938 A>G Pathogenic Initiator codon variant, missense variant
rs104893939 A>C,G Pathogenic Coding sequence variant, missense variant
rs143014431 T>G Pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT023710 hsa-miR-1-3p Microarray 18668037
MIRT1384443 hsa-miR-3167 CLIP-seq
MIRT1384444 hsa-miR-3661 CLIP-seq
MIRT1384445 hsa-miR-631 CLIP-seq
MIRT1384446 hsa-miR-876-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0004866 Function Endopeptidase inhibitor activity TAS 7142173
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 14507909, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
167790 11244 ENSG00000164266
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00995
Protein name Serine protease inhibitor Kazal-type 1 (Pancreatic secretory trypsin inhibitor) (Tumor-associated trypsin inhibitor) (TATI)
Protein function Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173). In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity). ; F
PDB 1CGI , 1CGJ , 1HPT , 7QE8 , 7QE9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00050 Kazal_1 31 → 79 Kazal-type serine protease inhibitor domain Domain
Sequence
Sequence length 79
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
254
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic pancreatitis Likely pathogenic; Pathogenic rs148954387 RCV000626838
Colon adenocarcinoma Likely pathogenic; Pathogenic rs148954387 RCV005889448
Diabetes mellitus Likely pathogenic; Pathogenic rs148954387 RCV001249189
Familial cancer of breast Likely pathogenic; Pathogenic rs148954387 RCV005889447
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity rs370266754 RCV005912380
Clear cell carcinoma of kidney Benign; Likely benign rs35737774, rs529627158 RCV005892633
RCV005934878
Colorectal cancer Benign; Likely benign rs35737774 RCV005892634
Finnish congenital nephrotic syndrome association; Conflicting classifications of pathogenicity; risk factor rs17107315 RCV001258230
Show/Hide Text Mining Associations (85)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 33097431
Abortion Habitual Associate 38334943
Adenocarcinoma Associate 1290027, 19465903, 24299561, 26081616
Adenocarcinoma of Lung Associate 26081616
Adenoma Associate 26037168, 37565794
Adenomatous Polyposis Coli Associate 37565794
Adult onset citrullinemia type 2 Associate 7556646
Alcohol Related Disorders Associate 11950815
Angioedemas Hereditary Associate 2723063, 2890659
Arthritis Rheumatoid Associate 29973208