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

Gene ID: 5644, updated on 13-Apr-2014
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]
Location :
7q34
Sequence :
Chromosome: 7; NC_000007.14 (142749468..142753076)
See PRSS1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene T cell receptor beta locus 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)

ISCA Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-10-29)

ISCA 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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 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
 
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
 
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
beta-trypsin
trypsinogen 1
trypsinogen A
digestive zymogen
cationic trypsinogen
nonfunctional trypsin 1
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 Reference

    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 proteins identical to 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
    Blast Score: 800
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:24242
    Blast Score: 800
    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 106

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

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_187562.1 Reference GRCh38 ALT_REF_LOCI_1

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38 Primary Assembly

    Range
    142749468..142753076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 Alternate HuRef

    Range
    136785804..136789412
    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)

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