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PRSS1 Gene

protein-coding   GIFtS: 68
GCID: GC07P142773

Protease, Serine, 1 (Trypsin 1)


(Previous symbol: TRY1)
  See PRSS1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protease, Serine, 1 (Trypsin 1)1 2     Nonfunctional Trypsin 12
TRY11 2 3 5     trypsin-12
Cationic Trypsinogen2 3     Trypsinogen 12
TRP12 3     Trypsinogen A2
TRYP12 3     Beta-trypsin3
EC 3.4.21.43 8     Serine Protease 13
TRY42     Trypsin I3
beta-trypsin2     EC 3.4.218
Digestive Zymogen2     

External Ids:    HGNC: 94751   Entrez Gene: 56442   Ensembl: ENSG000002049837   OMIM: 2760005   UniProtKB: P074773   

Export aliases for PRSS1 gene to outside databases

Previous GC identifers: GC07P140730 GC07P141820 GC07P141898 GC07P141901 GC07P141675 GC07P141943 GC07P142136 GC07P142458 GC07P142461 GC07P142572 GC07P142641 GC07P142711


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PRSS1 Gene:
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)

GeneCards Summary for PRSS1 Gene:
PRSS1 (protease, serine, 1 (trypsin 1)) is a protein-coding gene. Diseases associated with PRSS1 include trypsinogen deficiency, and prss1-related hereditary pancreatitis. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is KLK10.

UniProtKB/Swiss-Prot: TRY1_HUMAN, P07477
Function: Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec,
Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against
all of these substrates

Gene Wiki entry for PRSS1 (Trypsin 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  NT_187562.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRSS1 gene promoter:
         AML1a   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   LCR-F1   Tal-1beta   POU3F2   FOXO4   Zic3   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): PRSS1 promoter sequence
   Search Chromatin IP Primers for PRSS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRSS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

PRSS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRSS1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P142773:  view genomic region     (about GC identifiers)

Start:
142,457,319 bp from pter      End:
142,460,927 bp from pter
Size:
3,609 bases      Orientation:
plus strand

2 alternative locations:
Chr7+,CRA_TCAG 141,828,623-141,832,231      Chr7+,NW_003571040 932,136-935,744     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TRY1_HUMAN, P07477 (See protein sequence)
Recommended Name: Trypsin-1 precursor  
Size: 247 amino acids; 26558 Da
Cofactor: Binds 1 calcium ion per subunit
Mass spectrometry: Mass=24348; Mass_error=2; Method=Electrospray; Range=24-247; Source=PubMed:8683601;
Caution: Tyr-154 was proposed to be phosphorylated (PubMed:8683601) but it has been shown (PubMed:17087724) to be
sulfated instead. Phosphate and sulfate groups are similar in mass and size, and this can lead to erroneous
interpretation of the results
3 PDB 3D structures from and Proteopedia for PRSS1:
1FXY (3D)        1TRN (3D)        2RA3 (3D)    
Secondary accessions: A1A509 A6NJ71 B2R5I5 Q5NV57 Q7M4N3 Q7M4N4 Q92955 Q9HAN4 Q9HAN5 Q9HAN6
Q9HAN7

Explore the universe of human proteins at neXtProt for PRSS1: NX_P07477

Explore proteomics data for PRSS1 at MOPED

Post-translational modifications: 

  • Occurs in a single-chain form and a two-chain form, produced by proteolytic cleavage after Arg-1221
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PRSS1 (P07477) (see all 23)
     EGGKDSC  PGVYTKV  CEASYPG  IQVRLGE 


    See PRSS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002760.1  
    ENSEMBL proteins: 
     ENSP00000417854   ENSP00000308720   ENSP00000419912  
    Reactome Protein details: P07477

    PRSS1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRSS: Serine peptidases / Serine peptidases

    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P07477

    ProtoNet protein and cluster: P07477

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: TRY1_HUMAN, P07477
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with PRSS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRY1_HUMAN, P07477
    Function: Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec,
    Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against
    all of these substrates
    Catalytic activity: Preferential cleavage: Arg- -Xaa, Lys- -Xaa

         Genatlas biochemistry entry for PRSS1:
    protease serine 1,trypsin 1,expressed in pancreas

         Enzyme Numbers (IUBMB): EC 3.4.21.41 2 EC 3.4.212

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity TAS8841182
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with PRSS1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRSS1
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    Sino Biological Human cDNA Clone for PRSS1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRY1_HUMAN, P07477: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ----
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with PRSS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PRSS1 About   (see all 9)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    3Metabolism
    Metabolism0.38
    4Matrix Metalloproteinases
    Activation of Matrix Metalloproteinases0.37
    5Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36


    Find genes that share SuperPaths with PRSS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for PRSS1
        Cobalamin (Cbl, vitamin B12) transport and metabolism
    Activation of Matrix Metalloproteinases


    4 Kegg Pathways  (Kegg details for PRSS1):
        Neuroactive ligand-receptor interaction
    Pancreatic secretion
    Protein digestion and absorption
    Influenza A

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRSS1
    Interactions:

        GeneGlobe Interaction Network for PRSS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PRSS1 (P074773 ENSP000003087204) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINF2P086973, ENSP000003218534I2D: score=2 STRING: ENSP00000321853
    APPP050673, ENSP000002849814I2D: score=1 STRING: ENSP00000284981
    SERPINA1P010093, ENSP000003480684I2D: score=1 STRING: ENSP00000348068
    DEFA5Q015233, ENSP000003298904I2D: score=1 STRING: ENSP00000329890
    PTPN4P290743, ENSP000002637084I2D: score=1 STRING: ENSP00000263708
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0007586digestion IEA--
    GO:0009235cobalamin metabolic process TAS--

    Find genes that share ontologies with PRSS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PRSS1 (TRY1)

    1 HMDB Compound for PRSS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected DrugBank Compounds for PRSS1 (see all 101)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (2s,4r)-1-Acetyl-N-[(1s)-4-[(Aminoiminomethyl)Amino]-1-(2-Benzothiazolylcarbonyl)Butyl]-4-Hydroxy-2-Pyrrolidinecarboxamide-- --target--17139284 17016423 10592235
    1-(4-Tert-Butylcarbamoyl-Piperazine-1-Carbonyl)-3-(3-Guanidino-Propyl)-4-Oxo-Azetidine-2-Carboxylic Acid-- --target--17139284 17016423 10592235
    2-(2-Oxo-1,2-Dihydro-Pyridin-3-Yl)-1h-Benzoimidazole-5-Carboxamidine-- --target--17139284 17016423 10592235
    2-Phenylethylamine-- 64-04-0target--17139284 17016423 10592235
    3-Phenylpropylamine-- --target--17139284 17016423 10592235
    4-Fluorobenzylamine-- --target--17139284 17016423 10592235
    4-Phenylbutylamine-- --target--17139284 17016423 10592235
    4-{[1-Methyl-5-(2-Methyl-Benzoimidazol-1-Ylmethyl)-1h-Benzoimidazol-2-Ylmethyl]-Amino}-Benzamidine-- --target--17139284 17016423 10592235
    Aeruginosin 98-B-- --target--17139284 17016423 10592235
    Aminomethylcyclohexane-- 3218-02-8target--17139284 17016423 10592235

    9 Novoseek inferred chemical compound relationships for PRSS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trypsinogen 95.6 82 11391623 (3), 19287144 (3), 17613931 (2), 11708864 (2) (see all 45)
    serine 60.4 27 10878362 (2), 15776435 (2), 17177967 (1), 15786540 (1) (see all 15)
    arginine 17 2 15786540 (1), 10204851 (1)
    asparagine 13.6 1 17217378 (1)
    histidine 8.73 1 10204851 (1)
    fibrinogen 2.22 3 15685507 (1), 17539966 (1), 18456010 (1)
    tyrosine 0 2 8683601 (1), 15256063 (1)
    polysaccharide 0 1 17384412 (1)
    cysteine 0 1 15786540 (1)



    Find genes that share compounds with PRSS1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PRSS1 gene: 
    NM_002769.4  

    Unigene Cluster for PRSS1:

    Protease, serine, 1 (trypsin 1)
    Hs.449281  [show with all ESTs]
    Unigene Representative Sequence: BM906438
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486171 ENST00000485223(uc011ksm.1) ENST00000311737(uc003wak.2)
    ENST00000497041 ENST00000492062 ENST00000463701(uc003wam.2)
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      QuantiFast Probe-based Assays in human, mouse, rat PRSS1

    Additional mRNA sequence: 

    AK312199.1 BC005814.2 BC103998.2 BC128226.1 DQ778083.1 M22612.1 M27602.1 

    Selected DOTS entries (see all 69):

    DT.121076531  DT.100045934  DT.97862759  DT.97857442  DT.100043423  DT.100828696  DT.97862767  DT.95224978 
    DT.121076107  DT.121076237  DT.100828691  DT.100045926  DT.101976063  DT.121076881  DT.91767689  DT.87078490 
    DT.100045920  DT.121076949  DT.100045929  DT.100828689  DT.121076322  DT.121075945  DT.121076801  DT.121075973 

    4 AceView cDNA sequences:

    M22612 BC035777 CR627200 NM_002769 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRSS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PRSS1 Expression
    About this image

    PRSS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRSS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.449281
        Custom PCR Arrays for PRSS1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRSS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PRSS1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prss15
    Try101
    protease, serine, 1 (trypsin 1)5
    trypsin 101
    82.66(n)1
    78.86(a)1
      6 (19.60 cM)5
    4365221  NM_001038996.21  NP_001034085.11 
     414589325 
    chicken
    (Gallus gallus)
    Aves PRSS36
    PRSS26
    (see all 5)
    Gallus gallus protease, serine, 3 (PRSS3), mRNA.
    Gallus gallus protease, serine, 2 (trypsin 2) (PRS...
    (see all 5)
    67(a)
    66(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    1(77659665-77662349)
    AADN03009585.1(654-2195)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    69(a)
    66(a)
    many ↔ many
    many ↔ many
    GL343499.1(516263-524830)
    GL343499.1(468698-476089)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF593108.12   -- 78.28(n)    CF593108.1 
    zebrafish
    (Danio rerio)
    Actinopterygii try2 trypsin 77.51(n)   65223  AF541952.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Try29F3
    CG106631
    trypsin3
    CG106631
    41(a)
    (best of 15)3
    47.64(n)1
    37.9(a)1
      2 29F73
    394211  NM_001104122.21  NP_001097592.11 


    ENSEMBL Gene Tree for PRSS1 (if available)
    TreeFam Gene Tree for PRSS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRSS1 gene
    KLK102  ENSG000002697412  KLK12  KLK42  PRSS372  KLK112  KLK72  KLK142  
    KLK92  KLK122  KLK132  KLK62  KLK22  KLK152  KLK52  PRSS582  
    PRSS32  KLK82  KLK32  
    Selected SIMAP similar genes for PRSS1 using alignment to 17 protein entries:     TRY1_HUMAN (see all proteins) (see all similar genes):
    PRSS3    TRY8    PRSS2    HAT    TMPRSS11B    PRSS36
    KLK8    TMPRSS11D    PRSS46    TMPRSS7    KLK6    DESC1
    F10    KLK5    TMPRSS13    ACR    KLK15    OVCH2

    Find genes that share paralogs with PRSS1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PRSS1
    PGOHUM00000233021


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRSS1 (see all 376)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0116934
    Pancreatitis, hereditary (PCTT)4--see VAR_0116932 A V mis40--------
    VAR_0116544
    Pancreatitis, hereditary (PCTT)4--see VAR_0116542 L P mis40--------
    rs289349021,2,4
    Pancreatitis, hereditary (PCTT)4--see VAR_0379092 mis40--------
    VAR_0067214
    Pancreatitis, hereditary (PCTT)4--see VAR_0067212 R H mis40--------
    VAR_0127134
    Pancreatitis, hereditary (PCTT)4--see VAR_0127132 R C mis40--------
    VAR_0116554
    Pancreatitis, hereditary (PCTT)4--see VAR_0116552 R C mis40--------
    VAR_0067204
    Pancreatitis, hereditary (PCTT)4--see VAR_0067202 N I mis40--------
    VAR_0116524
    Pancreatitis, hereditary (PCTT)4--see VAR_0116522 D G mis40--------
    VAR_0379084
    Pancreatitis, hereditary (PCTT)4--see VAR_0379082 N S mis40--------
    VAR_0116564
    Pancreatitis, hereditary (PCTT)4--see VAR_0116562 C F mis40--------

    HapMap Linkage Disequilibrium report for PRSS1 (142457319 - 142460927 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PRSS1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735271CNV Deletion23290073
    dgv1167e201CNV Deletion23290073
    nsv428187CNV Loss18775914
    dgv841n27CNV Loss19166990
    nsv818563CNV Loss17921354
    nsv824336CNV Loss20364138
    esv34617CNV Loss17911159
    nsv889274CNV Loss21882294
    nsv819176CNV Loss19587683
    nsv831166CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): PRSS1
    Locus Specific Mutation Databases (LSDB): PRSS1

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PRSS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PRSS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 276000   
    OMIM disorders: 167800  614044  
    UniProtKB/Swiss-Prot: TRY1_HUMAN, P07477
  • Pancreatitis, hereditary (PCTT) [MIM:167800]: A disease characterized by pancreas inflammation, permanent
    destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 13 diseases for PRSS1:    
    About MalaCards
    trypsinogen deficiency    prss1-related hereditary pancreatitis    pancreatitis    pancreatic steatorrhea
    pancreatitis, chronic    hereditary pancreatitis    pediatric ulcerative colitis    pancreatitis, chronic, protection against
    pancreatitis, idiopathic    tropical calcific pancreatitis    steatorrhea    alcoholic pancreatitis
    pancreatic cancer

    4 diseases from the University of Copenhagen DISEASES database for PRSS1:
    Pancreatitis     Pancreatic cancer     Cystic fibrosis     Pancreatic steatorrhea

    Find genes that share disorders with PRSS1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PRSS1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pancreatitis hereditary 96.9 63 17087933 (3), 15528017 (3), 17072318 (2), 17613931 (2) (see all 32)
    chronic pancreatitis 88.4 52 18522894 (5), 15082592 (3), 18272034 (3), 18442214 (2) (see all 33)
    pancreatitis 83.2 44 18852684 (3), 15786540 (2), 12765848 (2), 18442214 (2) (see all 25)
    pancreatic cancer 72.5 7 15786540 (1), 15749231 (1), 12120238 (1), 10508123 (1) (see all 7)
    cystic fibrosis 57 10 18953248 (1), 20387681 (1), 17981921 (1), 18336667 (1)
    adenocarcinoma 41.4 2 15749231 (1), 15528017 (1)
    myeloma 3.21 2 2347596 (1), 12193285 (1)
    inflammation 2.32 7 16354799 (1), 17981921 (1), 17090903 (1), 17087933 (1)
    tumors 0 13 11391623 (2), 17981921 (1)
    hepatitis c 0 1 17177967 (1)

    Genetic Association Database (GAD): PRSS1
    Human Genome Epidemiology (HuGE) Navigator: PRSS1 (43 documents)

    Export disorders for PRSS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PRSS1 gene, integrated from 10 sources (see all 237):
    (articles sorted by number of sources associating them with PRSS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. (PubMed id 11866271)1, 2, 4 Teich N.... Keim V. (Am. J. Gastroenterol. 2002)
    2. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. (PubMed id 10381903)1, 2, 4 Witt H.... Becker M. (Gastroenterology 1999)
    3. [Mutations of SPINK1 and PRSS1 gene in Korean patients with chronic pancreatitis]. (PubMed id 15329520)1, 4, 9 Lee K.H....Kim C.Y. (Korean J Gastroenterol 2004)
    4. Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. (PubMed id 15082592)1, 4, 9 Chandak G.R....Singh L. (Gut 2004)
    5. Prevalence of pancreatic diabetes in patients carrying mutations or polymorphisms of the PRSS1 gene in the Han population. (PubMed id 20001681)1, 4, 9 Liu Q.C....Wang Z.Q. (amp 2009)
    6. Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. (PubMed id 18272034)1, 4, 9 Liu Q.C....Cheng Z.J. (Chin. Med. J. 2008)
    7. SPINK1 and PRSS1 mutations in benign pancreatic hyperenzymemia. (PubMed id 18580441)1, 4, 9 Gullo L....Malesci A. (Pancreas 2008)
    8. Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis. (PubMed id 16954950)1, 4, 9 SobczyA8ska-Tomaszewska A....Bal J. (J. Pediatr. Gastroenterol. Nutr. 2006)
    9. Crystal structure of human trypsin 1: unexpected phosphorylation of Tyr151. (PubMed id 8683601)1, 2, 9 Gaboriaud C....Fontecilla-Camps J.-C. (J. Mol. Biol. 1996)
    10. Genetic mutations in a Spanish population with chronic pancreatitis. (PubMed id 19657220)1, 4, 9 Mora J....FarrAc A. (Pancreatology 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5644 HGNC: 9475 AceView: PRSS1 Ensembl:ENSG00000204983 euGenes: HUgn5644
    ECgene: PRSS1 Kegg: 5644 H-InvDB: PRSS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PRSS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PRSS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PRSS1 gene:
    Search GeneIP for patents involving PRSS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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