Format

Send to:

Choose Destination
    • Showing Current items.

    PRSS1 serine protease 1 [ Homo sapiens (human) ]

    Gene ID: 5644, updated on 8-Jul-2021

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRSS1 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (142740235..142753076)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142457323..142460923)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene T cell receptor beta locus Neighboring gene piggyBac transposable element derived 4 pseudogene 1 Neighboring gene T cell receptor beta variable 28 Neighboring gene T cell receptor beta variable 29-1 Neighboring gene PRSS3 pseudogene 1 Neighboring gene serine protease 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
    GeneReviews: Not available
    Hereditary pancreatitis 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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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
    PubMed 
    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
    PubMed 

    General protein information

    Preferred Names
    trypsin-1
    Names
    TCR V beta 4.1
    beta-trypsin
    cationic trypsinogen
    digestive zymogen
    nonfunctional trypsin 1
    protease, serine 1
    trypsinogen 1
    trypsinogen A
    NP_002760.1
    XP_011514713.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008307.3 RefSeqGene

      Range
      4989..8589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1013

    mRNA and Protein(s)

    1. NM_002769.5NP_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
      ENSP00000308720.7, ENST00000311737.12
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011516411.1XP_011514713.1  trypsin-1 isoform X1

      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.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187562.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      752069..755669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center