PRSS1 (serine protease 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5644
Gene name Serine protease 1
Gene symbol PRSS1
Synonyms (NCBI Gene)
TRP1TRY1TRY4TRYP1
Chromosome 7
Chromosome location 7q34
Summary 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 l
SNPs SNP information provided by dbSNP.
18
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
SNP ID Visualize variation Clinical significance Consequence
rs111033565 G>A Pathogenic Missense variant, coding sequence variant
rs111033566 A>C,T Benign, pathogenic, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs111033567 A>G Likely-pathogenic Missense variant, coding sequence variant
rs111033568 C>G,T Uncertain-significance, pathogenic Missense variant, coding sequence variant
rs143909348 G>A,C Benign, conflicting-interpretations-of-pathogenicity Splice donor variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity TAS 8841182
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
276000 9475 ENSG00000204983
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07477
Protein name Serine protease 1 (EC 3.4.21.4) (Anionic trypsin I) (Anionic trypsin-I) (Beta-trypsin) (Cationic trypsinogen) (Pretrypsinogen I) (Trypsin I) (Trypsin-1) [Cleaved into: Alpha-trypsin chain 1; Alpha-trypsin chain 2]
Protein function Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates. {ECO:0000269|PubMe
PDB 1FXY , 1TRN , 2RA3 , 4WWY , 4WXV , 7QE8 , 7QE9 , 8H3S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 24 → 239 Trypsin Domain
Sequence
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Pancreatic secretion
Protein digestion and absorption
Influenza A 		  Activation of Matrix Metalloproteinases
Cobalamin (Cbl, vitamin B12) transport and metabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
700
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary pancreatitis Likely pathogenic; Pathogenic rs199769221, rs111033565, rs111033567, rs267606982, rs111033568, rs387906698, rs397507439, rs202003805, rs111033566 RCV000149411
RCV000012651
RCV000012653
RCV000012657
RCV000012658
RCV000022814
RCV001939531
RCV000031920
RCV000031923
PRSS1-related disorder Likely pathogenic; Pathogenic rs111033565, rs111033568 RCV003944816
RCV004754256
Recurrent pancreatitis Likely pathogenic; Pathogenic rs202003805 RCV000626826
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Conflicting classifications of pathogenicity rs199713773, rs144422014, rs143909348 RCV005931924
RCV005887465
RCV005898371
Familial cancer of breast Uncertain significance; Likely benign rs762545562, rs199713773 RCV005930100
RCV005931923
Hereditary cancer-predisposing syndrome Likely benign rs114819084 RCV000209578
Myoepithelial tumor Conflicting classifications of pathogenicity rs111033566 RCV002463587
Show/Hide Text Mining Associations (44)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 27179223
Anemia Aplastic Stimulate 35435273
Ascites Associate 34132023
Autoimmune Diseases Associate 35435273
Autoimmune Pancreatitis Associate 18442214, 23745036, 28151472
Carcinoma Hepatocellular Associate 20532728
Carcinoma Pancreatic Ductal Associate 37329816
Cerebral Palsy Ataxic Autosomal Recessive Associate 19096130, 20676769
Cholangiocarcinoma Associate 20198321
Colitis Ulcerative Associate 23745029