Trypsin 1

From WikiProjectMed
Jump to navigation Jump to search
PRSS1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPRSS1, TRP1, TRY1, TRY4, TRYP1, Trypsin 1, protease, serine 1, serine protease 1
External IDsOMIM: 276000 MGI: 3687012 HomoloGene: 134623 GeneCards: PRSS1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002769

NM_001038996

RefSeq (protein)

NP_002760

NP_001034085

Location (UCSC)Chr 7: 142.75 – 142.75 MbChr 6: 41.33 – 41.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Trypsin-1, also known as cationic trypsinogen, is a protein that in humans is encoded by the PRSS1 gene. Trypsin-1 is the main isoform of trypsinogen secreted by pancreas, the others are trypsin-2 (anionic trypsinogen), and trypsin-3 (meso-trypsinogen).

Function

This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7.[5]

Clinical significance

Its malfunction acts in an autosomal dominant manner to cause pancreatitis. Many mutations that can lead to pancreatitis have been found.[6][7][8][9] An example is a mutation at Arg 117. Arg 117 is a trypsin-sensitive site which can be cleaved by another trypsin and becomes inactivated. This site may be a fail-safe mechanism by which trypsin, when activated within the pancreas, may become inactivated. Mutation at this cleavage site would result in a loss of control and permit autodigestion, causing pancreatitis.[10]

See also

References

  1. ^ a b c ENSG00000204983 GRCh38: Ensembl release 89: ENSG00000274247, ENSG00000204983 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000071521 - 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: PRSS1 protease, serine, 1 (trypsin 1)".
  6. ^ Rebours V, Lévy P, Ruszniewski P (2011). "An overview of hereditary pancreatitiss". Digestive and Liver Disease. 44 (1): 8–15. doi:10.1016/j.dld.2011.08.003. PMID 21907651.
  7. ^ Teich N, Mössner J, Keim V (1998). "Mutations of the cationic trypsinogen in hereditary pancreatitis". Hum. Mutat. 12 (1): 39–43. doi:10.1002/(SICI)1098-1004(1998)12:1<39::AID-HUMU6>3.0.CO;2-P. PMID 9633818. S2CID 45885044.
  8. ^ Chen JM, Ferec C (2000). "Molecular basis of hereditary pancreatitis". Eur. J. Hum. Genet. 8 (7): 473–9. doi:10.1038/sj.ejhg.5200492. PMID 10909845.
  9. ^ Gorry MC, Gabbaizedeh D, Furey W, et al. (1997). "Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis". Gastroenterology. 113 (4): 1063–8. doi:10.1053/gast.1997.v113.pm9322498. PMID 9322498.
  10. ^ Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD (1996). "Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene". Nature Genetics. 14 (2): 141–5. doi:10.1038/ng1096-141. PMID 8841182. S2CID 21974705.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.