PRSS1 (serine protease 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5644
Gene name Gene Name - the full gene name approved by the HGNC.
Serine protease 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRSS1
Synonyms (NCBI Gene) Gene synonyms aliases
TRP1, TRY1, TRY4, TRYP1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q34
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
276000 9475 ENSG00000204983
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary Pancreatitis hereditary pancreatitis rs111033565, rs111033566, rs111033567, rs267606982, rs111033568, rs387906698, rs397507439, rs202003805, rs199769221 N/A
Vitamin D-Dependent Rickets Vitamin D-dependent rickets type II with alopecia rs111033566 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Pancreatic Neoplasm malignant pancreatic neoplasm N/A N/A GenCC
Pancreatitis Pancreatitis, Acute pancreatitis N/A N/A GWAS
Sarcoidosis Sarcoidosis N/A N/A GWAS
Show/Hide Text Mining Associations (44)
Associations from Text Mining Disease 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