PRSS1 protease, serine, 1 (trypsin 1) [Homo sapiens (human)] - Gene

Summary

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Official Symbol: PRSS1provided by HGNC
Official Full Name: protease, serine, 1 (trypsin 1)provided by HGNC
Primary source: HGNC:9475
See related: Ensembl:ENSG00000204983; HPRD:02039; MIM:276000; Vega:OTTHUMG00000158923
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRP1; TRY1; TRY4; TRYP1
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 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. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 7q34

Sequence :: Chromosome: 7; NC_000007.13 (142457319..142460927)

See PRSS1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Frequencies of CFTR variants p.R75Q, p.I148T, 5T-allele and p.E528E were comparable in patients and controls. We identified 103 CFTR variants, which represents a 2.7-fold risk increase (p<0.0001).
Title: CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
Two associations with alcoholic pancreatitis at genome-wide significance were identified and replicated at PRSS1-PRSS2 and X-linked CLDN2 through a two-stage genome-wide study.
Title: Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
Data show that among the 2 mutations in the PRSS1 gene, only the N29I mutation was found in 1 (1.7%) of 58 patients with AP, in the heterozygous state.
Title: Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis.
hereditary pancreatitis is caused by CTRC-dependent dysregulation of cationic trypsinogen autoactivation, which results in elevated trypsin levels in the pancreas.
Title: Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C.
All of the heterozygote patients with a combination of CFTR and SPINK1 or PRSS1 mutations had chronic pancreatitis.
Title: Genetic prevalence and characteristics in children with recurrent pancreatitis.
Mutations of PRSS1 gene may be an important factor of pancreatic cancer.
Title: Novel mutations of PRSS1 gene in patients with pancreatic cancer among Han population.
The -409 C/T genotype of PRSS1 was reveled to be a protective factor against pancreatic cancer in the Han Chinese population.
Title: The -409 C/T genotype of PRSS1 protects against pancreatic cancer in the Han Chinese population.
IVS 3+127 T>A and IVS 3+157 G>C mutation inthe PRSS1 gene were discovered in a subject with chronic pancreatitis, and one IVS 3+36 A>G mutation in the PRSS1 gene was found in 2 cases with pancreatic cancer.
Title: PRSS1 intron mutations in patients with pancreatic cancer and chronic pancreatitis.
Data shsow that alcoholic patients without coexisting high-risk PRSS1, CFTR, or SPINK1 variants had a significant overrepresentation of O blood type when compared with controls.
Title: ABO blood group and chronic pancreatitis risk in the NAPS2 cohort.
We believe that interaction between the novel IVS3+172 intronic variant and p.N29I mutation in the PRSS1 gene is associated with hereditary pancreatitis in this Malaysian Chinese family.
Title: Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family.

Submit: New GeneRIF Correction See all (66)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

PRSS1-related hereditary pancreatitis (HP) is characterized by inflammation of the pancreas that progresses from acute (sudden onset; duration <6 months) to recurrent acute (>1 episode of acute pancreatitis) to chronic (duration >6 months). The range of symptoms and disease course vary from person to person. On average, acute pancreatitis occurs by age ten years and chronic pancreatitis by age 20 years. Manifestations of acute pancreatitis can range from vague abdominal pain lasting one to three days to severe abdominal pain lasting days to weeks and requiring hospitalization. Chronic pancreatitis typically manifests as episodic or continuous mild to severe abdominal pain, exocrine pancreatic insufficiency leading to maldigestion, and pancreatic endocrine insufficiency (glucose intolerance progressing to type I diabetes mellitus). The risk for pancreatic cancer increases after age 50 years.

Diagnosis Testing

Acute pancreatitis is the presence of two of the following three findings: Sudden onset of typical epigastric abdominal pain . Serum amylase or lipase greater than three times normal . Characteristic findings on abdominal imaging. In chronic pancreatitis irreversible pancreatic changes are documented by histology, abdominal imaging, and/or functional studies. Presence of a PRSS1 disease-causing mutation establishes the diagnosis of PRSS1-related HP.

Genetic Counseling

PRSS1-related HP is inherited in an autosomal dominant manner. The proportion of PRSS1-related HP caused by a de novo mutation is unknown. Each child of an individual with PRSS1-related HP has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation of an affected family member has been identified. Requests for prenatal testing for conditions such as PRSS1-related HP that do not affect intellect and have some treatment available are not common.

References

PMID: 22379635

Trypsinogen deficiency

MIM: 614044

Genetic Testing Registry

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Cleavage of HIV-1 gp120 with trypsin at residue 432 destroys CD4 binding	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P07477	Q01523	DEFA5	HPRD	PubMed
P07477	P29074	PTPN4	HPRD	PubMed
P07477	P01009	SERPINA1	HPRD	PubMed
P07477	Q9UIV8	SERPINB13	HPRD	PubMed
P07477	P50452	SERPINB8	HPRD	PubMed
P07477	P08697	SERPINF2	HPRD	PubMed
P07477	Q9NQ38	SPINK5	HPRD	PubMed
P07477	Q16762	TST	HPRD	PubMed
BioGRID:111626	BioGRID:106715	ALB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111626	BioGRID:108021	DDX5	BioGRID	PubMed	Co-fractionation
BioGRID:111626	BioGRID:111289	SERPINB8	BioGRID	PubMed	Reconstituted Complex
BioGRID:111626	BioGRID:111360	SERPINF2	BioGRID	PubMed	Biochemical Activity
BioGRID:111626	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Activation of Matrix Metalloproteinases, organism-specific biosystem (from REACTOME)
Activation of Matrix Metalloproteinases, organism-specific biosystemThe matrix metalloproteinases (MMPs), previously known as matrixins, are classically known to be involved in the turnover of extracellular matrix (ECM) components. However, recent high throughput pro...
Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
Extracellular matrix organization, organism-specific biosystem (from REACTOME)
Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin, fibronectin and laminin embedded in a viscoelastic gel of ani...
Influenza A, organism-specific biosystem (from KEGG)
Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
Influenza A, conserved biosystem (from KEGG)
Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
Neuroactive ligand-receptor interaction, organism-specific biosystem
Neuroactive ligand-receptor interaction
Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
Neuroactive ligand-receptor interaction, conserved biosystem
Neuroactive ligand-receptor interaction
Pancreatic secretion, organism-specific biosystem (from KEGG)
Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
Pancreatic secretion, conserved biosystem (from KEGG)
Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
Protein digestion and absorption, organism-specific biosystem (from KEGG)
Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Protein digestion and absorption, conserved biosystem (from KEGG)
Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...

General gene information

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Markers

D7S2277 (e-PCR)
- UniSTS:153679

NoName (e-PCR)
- UniSTS:487015

NoName (e-PCR)
- UniSTS:480631

D7S2928 (e-PCR)
- UniSTS:47544

PRSS1 (e-PCR)
- UniSTS:61172

Genotypes

See PRSS1 SNP Geneview Report
See PRSS1 SNP Genotype Report
See PRSS1 SNP Variation Viewer Report

Related pseudogene(s)

2 found Review record(s) in Gene

Homology

Homologs of the PRSS1 gene: The PRSS1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and fruit fly.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

FLJ57296, MGC120175, MGC149362, DKFZp779A0837

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info
serine-type endopeptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
digestion	IEA Inferred from Electronic Annotation more info
extracellular matrix disassembly	TAS Traceable Author Statement more info
extracellular matrix organization	TAS Traceable Author Statement more info
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: trypsin-1

Names: trypsin-1; beta-trypsin; trypsinogen 1; trypsinogen A; digestive zymogen; cationic trypsinogen; nonfunctional trypsin 1

NP_002760.1

EC 3.4.21.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_001333.2 Reference

Range

583136..586744

Download

GenBank, FASTA, Sequence Viewer (Graphics)
NG_008307.2 RefSeqGene

Range

4990..8598

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002769.4 → NP_002760.1 trypsin-1 preproprotein

Status: REVIEWED

Source sequence(s)

BC128226, BP321999, CA948204

Consensus CDS

CCDS5872.1

UniProtKB/Swiss-Prot

P07477

Related

ENSP00000308720, OTTHUMP00000213668, ENST00000311737, OTTHUMT00000352538

Conserved Domains (1) summary

cd00190
Location:24 – 242
Blast Score: 702

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 PATCHES

Genomic

NW_003571040.1 Reference GRCh37.p10 PATCHES

Range

932136..935744

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p10 Primary Assembly

Range

142457319..142460927

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

136785804..136789412

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

141828623..141832231

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018918.1 Alternate CHM1_1.0

Range

145810546..145814154

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01034128.1 (132852..136460)	None
genomic	AC231380.2 (26475..30083)	None
genomic	AF314534.1	AAG30943.1
genomic	AF315309.1	AAG30947.1
genomic	AF315310.1	AAG30948.1
genomic	AF315311.1	AAG30949.1
genomic	AMYH01018007.1 (616786..620394)	None
genomic	AY234116.1	AAP59550.1
genomic	AY234117.1	AAO85796.1
genomic	AY234118.1	AAO85797.1
genomic	AY234119.1	AAO85798.1
genomic	AY234120.1	AAO85799.1
genomic	AY234121.1	AAO85800.1
genomic	AY234122.1	AAO85801.1
genomic	AY234123.1	AAO85802.1
genomic	AY254094.1	AAP42827.1
genomic	AY254095.1	AAP42828.1
genomic	AY307359.1	AAP74363.1
genomic	AY307360.1	AAP74364.1
genomic	CH236959.1	EAL23773.1
genomic	CH471198.2	EAW51925.1
genomic	CS423469.1	CAL49864.1
genomic	DQ128082.1	AAZ40216.1
genomic	L36092.2	AAC80207.1
genomic	U66061.1 (130813..134421)	None
genomic	U70137.1	AAC50728.1
mRNA	AA835201.1	None
mRNA	AK293375.1	BAG56887.1
mRNA	AK312199.1	BAG35132.1
mRNA	BC035777.1	None
mRNA	BC128226.1	AAI28227.1
mRNA	BP321959.1	None
mRNA	BP321999.1	None
mRNA	CA948204.1	None
mRNA	CR627200.1	None
mRNA	DQ778083.1	ABI63347.1
mRNA	M22612.1	AAA61231.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P07477.1	GenPept	UniProtKB/Swiss-Prot:P07477

Additional links

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Additional Links

Epigenomics
MIM 276000
Database of PRSS1 variants in patients with chronic pancreatitis www.uni-leipzig.de/pancreasmutation/db.html
PRSS1 homepage - Mendelian genes PRSS1
UCSC UCSC
UniGene Hs.449281