PRSS1 (serine protease 1)

2007-02-01  

Identity

HGNC
LOCATION
7q34
LOCUSID
ALIAS
TRP1,TRY1,TRY4,TRYP1

Other Information

Locus ID:

NCBI: 5644
MIM: 276000
HGNC: 9475
Ensembl: ENSG00000204983

Variants:

dbSNP: 5644
ClinVar: 5644
TCGA: ENSG00000204983
COSMIC: PRSS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204983ENST00000311737P07477
ENSG00000204983ENST00000486171E7EQ64
ENSG00000204983ENST00000492062H0Y8D1
ENSG00000204983ENST00000619214A6XGL3

Expression (GTEx)

0
10000
20000
30000
40000
50000
60000
70000
80000

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Influenza AKEGGko05164
Influenza AKEGGhsa05164
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Activation of Matrix MetalloproteinasesREACTOMER-HSA-1592389

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150176102004Clinical and genetic characteristics of hereditary pancreatitis in Europe.128
231436022012Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.78
187558882009The natural history of hereditary pancreatitis: a national series.69
181841192008Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series.57
181841192008Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series.57
224272362013CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?53
119322572002Presence of cathepsin B in the human pancreatic secretory pathway and its role in trypsinogen activation during hereditary pancreatitis.45
225393442012Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C.34
123604632002Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations.32
252531272015Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study.28

Citation

Dessen P

PRSS1 (serine protease 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43895/prss1