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

Gene ID: 5644, updated on 10-Apr-2015
Official Symbol
PRSS1provided by HGNC
Official Full Name
protease, serine, 1 (trypsin 1)provided by HGNC
Primary source
HGNC: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]
Orthologs
See PRSS1 in MapViewer
Location:
7q34
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (142740235..142753076)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142457319..142460927)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene T cell receptor beta locus Neighboring gene T cell receptor beta variable 27 Neighboring gene T cell receptor beta variable 28 Neighboring gene T cell receptor beta variable 29-1 Neighboring gene protease, serine, 3 pseudogene 1 Neighboring gene protease, serine, 2 (trypsin 2)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hereditary pancreatitis Compare labs
Trypsinogen deficiency
MedGen: C0268417 OMIM: 614044 GeneReviews: Not available
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

NHGRI GWAS Catalog

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

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

Go to the HIV-1, Human Interaction Database

  • 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...
  • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
    Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
  • 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 and associated-microfibrils, fibronectin and laminins embedded...
  • 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 ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
digestion IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
Preferred Names
trypsin-1
Names
trypsin-1
TCR V beta 4.1
beta-trypsin
cationic trypsinogen
digestive zymogen
nonfunctional trypsin 1
trypsinogen 1
trypsinogen A
NP_002760.1

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

  1. NG_001333.2 

    Range
    583136..586744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_008307.2 RefSeqGene

    Range
    4990..8598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002769.4NP_002760.1  trypsin-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
    P07477
    Related
    ENSP00000308720, OTTHUMP00000213668, ENST00000311737, OTTHUMT00000352538
    Conserved Domains (2) summary
    smart00020
    Location:23239
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:24242
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    142740235..142753076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516411.1XP_011514713.1  

    Conserved Domains (4) summary
    smart00020
    Location:248464
    Tryp_SPc; Trypsin-like serine protease
    smart00410
    Location:29113
    IG_like; Immunoglobulin like
    cd00190
    Location:249467
    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 ...
    cl11960
    Location:19119
    Ig; Immunoglobulin domain

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187562.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    752065..755673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    142383440..142387048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)