Serine Protease Inhibitor, Kazal-Type, 1

Alternative Names

  • SPINK1
  • Pancreatic Secretory Trypsin Inhibitor
  • PSTI
  • Tumor-Associated Trypsin Inhibitor
  • TATI

Associated Diseases

Pancreatitis, Hereditary
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OMIM Number

167790

NCBI Gene ID

6690

Uniprot ID

P00995

Length

14,615 bases

No. of Exons

6

No. of isoforms

1

Protein Name

Serine protease inhibitor Kazal-type 1

Molecular Mass

8507 Da

Amino Acid Count

79

Genomic Location

chr5:147,824,582-147,839,196

Gene Map Locus
5q32

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001379610.1:c.101A>GUnited Arab EmiratesNC_000005.10:g.147828115T>CAssociation, Likely Benign, Likely Pathogenic, Pathogenic, Risk factor, Uncertain SignificanceRisk factorPancreatitis, HereditaryNG_008356.2:g.16117A>G; NM_001379610.1:c.101A>G; NP_003113.2:p.Asn34Ser1205582813760
NM_001379610.1:c.56-37T>CUnited Arab EmiratesNC_000005.10:g.147829667A>GBenign, Risk factorRisk factorPancreatitis, HereditaryNG_008356.2:g.14565T>C; NM_001379610.1:c.56-37T>C17107318239507
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