SPINK1 (serine peptidase inhibitor Kazal type 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6690
Gene name Gene Name - the full gene name approved by the HGNC.
Serine peptidase inhibitor Kazal type 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPINK1
Synonyms (NCBI Gene) Gene synonyms aliases
PCTT, PSTI, Spink3, TATI, TCP
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q32
Summary Summary of gene provided in NCBI Entrez 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 pa
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
167790 11244 ENSG00000164266
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary Pancreatitis hereditary pancreatitis rs104893938, rs104893939, rs193922659, rs148954387, rs1554089895, rs1561606446 N/A
Tropical Pancreatitis tropical pancreatitis rs191068215, rs148954387 N/A
Diabetes Mellitus diabetes mellitus rs148954387 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Finnish Congenital Nephrotic Syndrome finnish congenital nephrotic syndrome N/A N/A ClinVar
Pancreatitis Acute pancreatitis N/A N/A GWAS
Show/Hide Text Mining Associations (85)
Associations from Text Mining Disease 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