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

Summary

Official Symbol: PRSS1provided by HGNC
Official Full Name: serine protease 1provided by HGNC
Primary source: HGNC:HGNC:9475
See related: Ensembl:ENSG00000204983 MIM:276000; AllianceGenome:HGNC:9475
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]
Expression: Restricted expression toward pancreas (RPKM 45120.4) See more
Orthologs: all
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Genomic context

Location:: 7q34

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (142749472..142753072)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (144105191..144108791)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (142457323..142460923)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis].
Title: [Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis].
Pancreatitis-Associated PRSS1-PRSS2 Haplotype Alters T-Cell Receptor Beta (TRB) Repertoire More Strongly Than PRSS1 Expression.
Title: Pancreatitis-Associated PRSS1-PRSS2 Haplotype Alters T-Cell Receptor Beta (TRB) Repertoire More Strongly Than PRSS1 Expression.
A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress.
Title: A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress.
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
Title: Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
Clinical interpretation of PRSS1 variants in patients with pancreatitis.
Title: Clinical interpretation of PRSS1 variants in patients with pancreatitis.
A high prevalence of genetic polymorphisms in idiopathic and alcohol-associated chronic pancreatitis patients in Ireland.
Title: A high prevalence of genetic polymorphisms in idiopathic and alcohol-associated chronic pancreatitis patients in Ireland.
Silencing PRSS1 suppresses the growth and proliferation of gastric carcinoma cells via the ERK pathway.
Title: Silencing PRSS1 suppresses the growth and proliferation of gastric carcinoma cells via the ERK pathway.
Defective binding of SPINK1 variants is an uncommon mechanism for impaired trypsin inhibition in chronic pancreatitis.
Title: Defective binding of SPINK1 variants is an uncommon mechanism for impaired trypsin inhibition in chronic pancreatitis.
Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses.
Title: Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses.
Single nucleotide polymorphisms in PRSS1 and CASR genes are associated with chronic pancreatitis in North-Eastern region of India.
Title: Single nucleotide polymorphisms in PRSS1 and CASR genes are associated with chronic pancreatitis in North-Eastern region of India.

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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

Associated conditions

Description	Tests
Hereditary pancreatitis MedGen: C0238339 OMIM: 167800 GeneReviews: PRSS1-Related Hereditary Pancreatitis, Pancreatitis Overview	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-29) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-10-29) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Clone Names

FLJ57296, MGC120175, MGC149362, DKFZp779A0837

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in digestion	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix disassembly	TAS Traceable Author Statement more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: serine protease 1

Names: TCR V beta 4.1; anionic trypsin I; beta-trypsin; cationic trypsinogen; digestive zymogen; nonfunctional trypsin 1; pretrypsinogen I; protease, serine 1; trypsinogen 1; trypsinogen A

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

Range

583136..586744

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GenBank, FASTA, Sequence Viewer (Graphics)
NG_008307.3 RefSeqGene

Range

4989..8589

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1013

mRNA and Protein(s)

NM_002769.5 → NP_002760.1 serine protease 1 preproprotein

See identical proteins and their annotated locations for NP_002760.1

Status: REVIEWED

Source sequence(s)

BC128226, BP321999, CA948204

Consensus CDS

CCDS5872.1

UniProtKB/Swiss-Prot

A1A509, A6NJ71, B2R5I5, P07477, Q5NV57, Q7M4N3, Q7M4N4, Q92955, Q9HAN4, Q9HAN5, Q9HAN6, Q9HAN7

UniProtKB/TrEMBL

A6XGL3

Related

ENSP00000308720.7, ENST00000311737.12

Conserved Domains (2) summary

smart00020
Location:23 → 239

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:24 → 242

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 ...

RNA

NR_172947.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC244472
NR_172948.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC244472
NR_172949.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC244472

Related

ENST00000492062.1
NR_172950.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC244472
NR_172951.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC244472