Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs189270875	G>C	Pathogenic, likely-pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs193922655	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922656	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs199769221	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs202003805	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267606982	GC>AT	Pathogenic	Missense variant, coding sequence variant
rs387906698	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs397507439	T>C	Pathogenic	Missense variant, coding sequence variant
rs397507440	T>A	Pathogenic	Missense variant, coding sequence variant
rs397507441	->TGACAAGAT	Pathogenic	Coding sequence variant, inframe insertion
rs397507442	A>G	Pathogenic	Missense variant, coding sequence variant
rs768853338	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554499091	T>C	Likely-pathogenic	Coding sequence variant, missense variant

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
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007586	Process	Digestion	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0031012	Component	Extracellular matrix	HDA	28675934
GO:0046872	Function	Metal ion binding	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
276000	9475	ENSG00000204983

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

MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSGYHFCGGSLINEQWVVS
AGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPQYDRKTLNNDIMLIKLSSRAVIN
ARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVLSQAKCEASYPGKIT
SNMFCVGFLEGGKDSCQGDSGGPVVCNGQLQGVVSWGDGCAQKNKPGVYTKVYNYVKWIK
NTIAANS

Sequence length

247

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary pancreatitis	Likely pathogenic; Pathogenic	rs199769221, rs111033565, rs111033567, rs267606982, rs111033568, rs387906698, rs397507439, rs202003805, rs111033566	RCV000149411 RCV000012651 RCV000012653 RCV000012657 RCV000012658 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PRSS1-related disorder	Likely pathogenic; Pathogenic	rs111033565, rs111033568	RCV003944816 RCV004754256	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent pancreatitis	Likely pathogenic; Pathogenic	rs202003805	RCV000626826	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HEREDITARY CHRONIC PANCREATITIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PANCREATITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS ASSOCIATED MECONIUM ILEUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT PANCREATIC NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC TRYPSINOGEN DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS, HEREDITARY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trypsinogen deficiency	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D-dependent rickets type II with alopecia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN D-DEPENDENT RICKETS, TYPE 2A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PRSS1 (serine protease 1)