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    PRSS1 serine protease 1 [ Homo sapiens (human) ]

    Gene ID: 5644, updated on 2-Nov-2024

    Summary

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    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

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    See PRSS1 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142749472..142753072)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144105191..144108791)
    RS_2024_09 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 uncharacterized LOC124901763 Neighboring gene T cell receptor beta variable 29-1 Neighboring gene PRSS3 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Low trypsinogen-1 expression in pediatric ulcerative colitis patients who undergo surgery. Piekkala M, et al. World J Gastroenterol, 2013 Jun 7. PMID 23745029, Free PMC Article
    2. [Three cases of hereditary pancreatitis in two households in the same family associated with R122H mutation in cationic trypsinogen gene]. Lee TY, et al. Korean J Gastroenterol, 2007 Jun. PMID 17641559
    3. Identification of a novel frame-shift mutation in PRSS1 gene in Han patients with autoimmune pancreatitis. Gao F, et al. Curr Mol Med, 2014 Mar. PMID 24236450
    4. Clinical and genetic characteristics of hereditary pancreatitis in Europe. Howes N, et al. Clin Gastroenterol Hepatol, 2004 Mar. PMID 15017610
    5. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Rebours V, et al. Am J Gastroenterol, 2008 Jan. PMID 18184119

    See all (244) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [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].
    2. 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.
    3. 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.
    4. 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.
    5. Clinical interpretation of PRSS1 variants in patients with pancreatitis.
      Title: Clinical interpretation of PRSS1 variants in patients with pancreatitis.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (130)

    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
    		not available

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    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
    		  
    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 PubMed 
    located_in collagen-containing extracellular matrix HDA 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

    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

    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_002769.5 → 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

    1. NR_172947.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC244472

    2. NR_172948.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC244472

    3. NR_172949.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC244472
      Related
      ENST00000492062.2

    4. NR_172950.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC244472

    5. NR_172951.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC244472

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      142749472..142753072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      144105191..144108791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07477.1 GenPept UniProtKB/Swiss-Prot:P07477

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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