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Wikipedia

SPINK1

Pancreatic secretory trypsin inhibitor (PSTI) also known as serine protease inhibitor Kazal-type 1 (SPINK1) or tumor-associated trypsin inhibitor (TATI) is a protein that in humans is encoded by the SPINK1 gene.[5]

SPINK1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSPINK1, PCTT, PSTI, Spink3, TATI, TCP, serine peptidase inhibitor, Kazal type 1, serine peptidase inhibitor Kazal type 1
External IDsOMIM: 167790 MGI: 106202 HomoloGene: 68300 GeneCards: SPINK1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003122
NM_001354966
NM_001379610

NM_009258

RefSeq (protein)

NP_003113
NP_001341895
NP_001366539

NP_033284

Location (UCSC)Chr 5: 147.82 – 147.83 MbChr 18: 43.86 – 43.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mutations in SPINK1 has been associated with hereditary pancreatitis and tropical pancreatitis. Trypsinogen is normally created and stored an inactive zymogen of trypsin in the pancreas, but occasionally will autoactivate itself. PSTI serves to cleave prematurely activated trypsin to prevent the enzyme from causing cellular damage to the organ. Without the function of PSTI, the pancreas is subject to repeated episodes of damage.[6] p.N34S mutation leads to idiopathic pancreatitis (for those reading zarovizsga).

It has also been associated with prostate cancer.[7]

See also edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164266 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024503 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: SPINK1 serine peptidase inhibitor, Kazal type 1".
  6. ^ Schneider, A. "SPINK1 - serine peptidase inhibitor, Kazal type 1". Wikigenes.
  7. ^ Tomlins SA, Rhodes DR, Yu J, Varambally S, Mehra R, Perner S, et al. (Jun 2008). "The role of SPINK1 in ETS rearrangement-negative prostate cancers". Cancer Cell. 13 (6): 519–28. doi:10.1016/j.ccr.2008.04.016. PMC 2732022. PMID 18538735.

Further reading edit

  • Marchbank T, Freeman TC, Playford RJ (1998). "Human pancreatic secretory trypsin inhibitor. Distribution, actions and possible role in mucosal integrity and repair". Digestion. 59 (3): 167–74. doi:10.1159/000007485. PMID 9643675.
  • Pfützer RH, Whitcomb DC (2002). "SPINK1 mutations are associated with multiple phenotypes". Pancreatology. 1 (5): 457–60. doi:10.1159/000055847. PMID 12120224. S2CID 8123648.
  • Schneider A (Mar 2005). "Serine protease inhibitor kazal type 1 mutations and pancreatitis". Clinics in Laboratory Medicine. 25 (1): 61–78. doi:10.1016/j.cll.2004.12.005. PMID 15749232.
  • Cohn JA, Mitchell RM, Jowell PS (Mar 2005). "The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis". Clinics in Laboratory Medicine. 25 (1): 79–100. doi:10.1016/j.cll.2004.12.007. PMID 15749233.
  • Kandula L, Whitcomb DC, Lowe ME (Jun 2006). "Genetic issues in pediatric pancreatitis". Current Gastroenterology Reports. 8 (3): 248–53. doi:10.1007/s11894-006-0083-8. PMID 16764792. S2CID 23606613.
  • Bartelt DC, Shapanka R, Greene LJ (Feb 1977). "The primary structure of the human pancreatic secretory trypsin inhibitor. Amino acid sequence of the reduced S-aminoethylated protein". Archives of Biochemistry and Biophysics. 179 (1): 189–99. doi:10.1016/0003-9861(77)90103-5. PMID 843082.
  • Hecht HJ, Szardenings M, Collins J, Schomburg D (Jun 1992). "Three-dimensional structure of a recombinant variant of human pancreatic secretory trypsin inhibitor (Kazal type)". Journal of Molecular Biology. 225 (4): 1095–103. doi:10.1016/0022-2836(92)90107-U. PMID 1613792.
  • Hecht HJ, Szardenings M, Collins J, Schomburg D (Aug 1991). "Three-dimensional structure of the complexes between bovine chymotrypsinogen A and two recombinant variants of human pancreatic secretory trypsin inhibitor (Kazal-type)". Journal of Molecular Biology. 220 (3): 711–22. doi:10.1016/0022-2836(91)90112-J. PMID 1870127.
  • Freeman TC, Davies R, Calam J (Dec 1990). "Interactions of pancreatic secretory trypsin inhibitor in small intestinal juice: its hydrolysis and protection by intraluminal factors". Clinica Chimica Acta; International Journal of Clinical Chemistry. 195 (1–2): 27–39. doi:10.1016/0009-8981(90)90191-T. PMID 2093478.
  • Kido H, Yokogoshi Y, Katunuma N (Mar 1990). "A low-molecular-mass Kazal-type protease inhibitor isolated from rat hepatocytes is identical to rat pancreatic secretory trypsin inhibitor II. Purification and amino acid sequence". European Journal of Biochemistry. 188 (3): 501–6. doi:10.1111/j.1432-1033.1990.tb15428.x. PMID 2110056.
  • Tomita N, Horii A, Yamamoto T, Ogawa M, Mori T, Matsubara K (Dec 1987). "Expression of pancreatic secretory trypsin inhibitor gene in neoplastic tissues". FEBS Letters. 225 (1–2): 113–9. doi:10.1016/0014-5793(87)81141-9. PMID 2961612. S2CID 20663654.
  • Horii A, Kobayashi T, Tomita N, Yamamoto T, Fukushige S, Murotsu T, Ogawa M, Mori T, Matsubara K (Dec 1987). "Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene". Biochemical and Biophysical Research Communications. 149 (2): 635–41. doi:10.1016/0006-291X(87)90415-3. PMID 3501289.
  • Yamamoto T, Nakamura Y, Nishide J, Emi M, Ogawa M, Mori T, Matsubara K (Oct 1985). "Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA". Biochemical and Biophysical Research Communications. 132 (2): 605–12. doi:10.1016/0006-291X(85)91176-3. PMID 3877508.
  • Huhtala ML, Pesonen K, Kalkkinen N, Stenman UH (Nov 1982). "Purification and characterization of a tumor-associated trypsin inhibitor from the urine of a patient with ovarian cancer". The Journal of Biological Chemistry. 257 (22): 13713–6. doi:10.1016/S0021-9258(18)33505-1. PMID 7142173.
  • Klaus W, Schomburg D (Feb 1993). "Solution structure of a variant of human pancreatic secretory trypsin inhibitor determined by nuclear magnetic resonance spectroscopy". Journal of Molecular Biology. 229 (3): 695–706. doi:10.1006/jmbi.1993.1073. PMID 8433367.
  • Chen JM, Mercier B, Audrezet MP, Ferec C (Jan 2000). "Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis". Journal of Medical Genetics. 37 (1): 67–9. doi:10.1136/jmg.37.1.67. PMC 1734438. PMID 10691414.
  • Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M (Jun 2000). "Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis". Nature Genetics. 25 (2): 213–6. doi:10.1038/76088. PMID 10835640. S2CID 23661289.
  • Pfützer RH, Barmada MM, Brunskill AP, Finch R, Hart PS, Neoptolemos J, Furey WF, Whitcomb DC (Sep 2000). "SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis". Gastroenterology. 119 (3): 615–23. doi:10.1053/gast.2000.18017. PMID 10982753.
  • Kaneko K, Nagasaki Y, Furukawa T, Mizutamari H, Sato A, Masamune A, Shimosegawa T, Horii A (2001). "Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis". Journal of Human Genetics. 46 (5): 293–7. doi:10.1007/s100380170082. PMID 11355022.


spink1, pancreatic, secretory, trypsin, inhibitor, psti, also, known, serine, protease, inhibitor, kazal, type, tumor, associated, trypsin, inhibitor, tati, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1c. Pancreatic secretory trypsin inhibitor PSTI also known as serine protease inhibitor Kazal type 1 SPINK1 or tumor associated trypsin inhibitor TATI is a protein that in humans is encoded by the SPINK1 gene 5 SPINK1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1CGI 1CGJ 1HPTIdentifiersAliasesSPINK1 PCTT PSTI Spink3 TATI TCP serine peptidase inhibitor Kazal type 1 serine peptidase inhibitor Kazal type 1External IDsOMIM 167790 MGI 106202 HomoloGene 68300 GeneCards SPINK1Gene location Human Chr Chromosome 5 human 1 Band5q32Start147 824 572 bp 1 End147 831 671 bp 1 Gene location Mouse Chr Chromosome 18 mouse 2 Band18 18 B3Start43 861 147 bp 2 End43 870 622 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inbody of pancreasislet of Langerhanspancreatic ductal cellduodenumjejunal mucosarectumpyloruscardiamucosa of urinary bladderamniotic fluidTop expressed inseminal vesiculaintestinal villusileumleft colonkidneypyloric antrumjejunumduodenumproximal tubuleyolk sacMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionpeptidase inhibitor activity endopeptidase inhibitor activity protein binding serine type endopeptidase inhibitor activityCellular componentextracellular region acrosomal vesicle extracellular exosome extracellular spaceBiological processnegative regulation of nitric oxide mediated signal transduction regulation of acrosome reaction negative regulation of peptidase activity negative regulation of peptidyl tyrosine phosphorylation negative regulation of serine type endopeptidase activity regulation of store operated calcium entry negative regulation of calcium ion import sperm capacitationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez669020730EnsemblENSG00000164266ENSMUSG00000024503UniProtP00995P09036RefSeq mRNA NM 003122NM 001354966NM 001379610NM 009258RefSeq protein NP 003113NP 001341895NP 001366539NP 033284Location UCSC Chr 5 147 82 147 83 MbChr 18 43 86 43 87 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseMutations in SPINK1 has been associated with hereditary pancreatitis and tropical pancreatitis Trypsinogen is normally created and stored an inactive zymogen of trypsin in the pancreas but occasionally will autoactivate itself PSTI serves to cleave prematurely activated trypsin to prevent the enzyme from causing cellular damage to the organ Without the function of PSTI the pancreas is subject to repeated episodes of damage 6 p N34S mutation leads to idiopathic pancreatitis for those reading zarovizsga It has also been associated with prostate cancer 7 See also editKazal type serine protease inhibitor domain PancreatitisReferences edit a b c GRCh38 Ensembl release 89 ENSG00000164266 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000024503 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene SPINK1 serine peptidase inhibitor Kazal type 1 Schneider A SPINK1 serine peptidase inhibitor Kazal type 1 Wikigenes Tomlins SA Rhodes DR Yu J Varambally S Mehra R Perner S et al Jun 2008 The role of SPINK1 in ETS rearrangement negative prostate cancers Cancer Cell 13 6 519 28 doi 10 1016 j ccr 2008 04 016 PMC 2732022 PMID 18538735 Further reading editMarchbank T Freeman TC Playford RJ 1998 Human pancreatic secretory trypsin inhibitor Distribution actions and possible role in mucosal integrity and repair Digestion 59 3 167 74 doi 10 1159 000007485 PMID 9643675 Pfutzer RH Whitcomb DC 2002 SPINK1 mutations are associated with multiple phenotypes Pancreatology 1 5 457 60 doi 10 1159 000055847 PMID 12120224 S2CID 8123648 Schneider A Mar 2005 Serine protease inhibitor kazal type 1 mutations and pancreatitis Clinics in Laboratory Medicine 25 1 61 78 doi 10 1016 j cll 2004 12 005 PMID 15749232 Cohn JA Mitchell RM Jowell PS Mar 2005 The impact of cystic fibrosis and PSTI SPINK1 gene mutations on susceptibility to chronic pancreatitis Clinics in Laboratory Medicine 25 1 79 100 doi 10 1016 j cll 2004 12 007 PMID 15749233 Kandula L Whitcomb DC Lowe ME Jun 2006 Genetic issues in pediatric pancreatitis Current Gastroenterology Reports 8 3 248 53 doi 10 1007 s11894 006 0083 8 PMID 16764792 S2CID 23606613 Bartelt DC Shapanka R Greene LJ Feb 1977 The primary structure of the human pancreatic secretory trypsin inhibitor Amino acid sequence of the reduced S aminoethylated protein Archives of Biochemistry and Biophysics 179 1 189 99 doi 10 1016 0003 9861 77 90103 5 PMID 843082 Hecht HJ Szardenings M Collins J Schomburg D Jun 1992 Three dimensional structure of a recombinant variant of human pancreatic secretory trypsin inhibitor Kazal type Journal of Molecular Biology 225 4 1095 103 doi 10 1016 0022 2836 92 90107 U PMID 1613792 Hecht HJ Szardenings M Collins J Schomburg D Aug 1991 Three dimensional structure of the complexes between bovine chymotrypsinogen A and two recombinant variants of human pancreatic secretory trypsin inhibitor Kazal type Journal of Molecular Biology 220 3 711 22 doi 10 1016 0022 2836 91 90112 J PMID 1870127 Freeman TC Davies R Calam J Dec 1990 Interactions of pancreatic secretory trypsin inhibitor in small intestinal juice its hydrolysis and protection by intraluminal factors Clinica Chimica Acta International Journal of Clinical Chemistry 195 1 2 27 39 doi 10 1016 0009 8981 90 90191 T PMID 2093478 Kido H Yokogoshi Y Katunuma N Mar 1990 A low molecular mass Kazal type protease inhibitor isolated from rat hepatocytes is identical to rat pancreatic secretory trypsin inhibitor II Purification and amino acid sequence European Journal of Biochemistry 188 3 501 6 doi 10 1111 j 1432 1033 1990 tb15428 x PMID 2110056 Tomita N Horii A Yamamoto T Ogawa M Mori T Matsubara K Dec 1987 Expression of pancreatic secretory trypsin inhibitor gene in neoplastic tissues FEBS Letters 225 1 2 113 9 doi 10 1016 0014 5793 87 81141 9 PMID 2961612 S2CID 20663654 Horii A Kobayashi T Tomita N Yamamoto T Fukushige S Murotsu T Ogawa M Mori T Matsubara K Dec 1987 Primary structure of human pancreatic secretory trypsin inhibitor PSTI gene Biochemical and Biophysical Research Communications 149 2 635 41 doi 10 1016 0006 291X 87 90415 3 PMID 3501289 Yamamoto T Nakamura Y Nishide J Emi M Ogawa M Mori T Matsubara K Oct 1985 Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor PSTI cDNA Biochemical and Biophysical Research Communications 132 2 605 12 doi 10 1016 0006 291X 85 91176 3 PMID 3877508 Huhtala ML Pesonen K Kalkkinen N Stenman UH Nov 1982 Purification and characterization of a tumor associated trypsin inhibitor from the urine of a patient with ovarian cancer The Journal of Biological Chemistry 257 22 13713 6 doi 10 1016 S0021 9258 18 33505 1 PMID 7142173 Klaus W Schomburg D Feb 1993 Solution structure of a variant of human pancreatic secretory trypsin inhibitor determined by nuclear magnetic resonance spectroscopy Journal of Molecular Biology 229 3 695 706 doi 10 1006 jmbi 1993 1073 PMID 8433367 Chen JM Mercier B Audrezet MP Ferec C Jan 2000 Mutational analysis of the human pancreatic secretory trypsin inhibitor PSTI gene in hereditary and sporadic chronic pancreatitis Journal of Medical Genetics 37 1 67 9 doi 10 1136 jmg 37 1 67 PMC 1734438 PMID 10691414 Witt H Luck W Hennies HC Classen M Kage A Lass U Landt O Becker M Jun 2000 Mutations in the gene encoding the serine protease inhibitor Kazal type 1 are associated with chronic pancreatitis Nature Genetics 25 2 213 6 doi 10 1038 76088 PMID 10835640 S2CID 23661289 Pfutzer RH Barmada MM Brunskill AP Finch R Hart PS Neoptolemos J Furey WF Whitcomb DC Sep 2000 SPINK1 PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis Gastroenterology 119 3 615 23 doi 10 1053 gast 2000 18017 PMID 10982753 Kaneko K Nagasaki Y Furukawa T Mizutamari H Sato A Masamune A Shimosegawa T Horii A 2001 Analysis of the human pancreatic secretory trypsin inhibitor PSTI gene mutations in Japanese patients with chronic pancreatitis Journal of Human Genetics 46 5 293 7 doi 10 1007 s100380170082 PMID 11355022 nbsp This article on a gene on human chromosome 5 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SPINK1 amp oldid 1116589258, wikipedia, wiki, book, books, library,

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