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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRSS1 Gene

protein-coding   GIFtS: 67
GCID: GC07P142641

protease, serine, 1 (trypsin 1)


(Previous symbol: TRY1)
 Explore 41 diseases affiliated with
PRSS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRSS1    

Aliases
for PRSS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Protease, Serine, 1 (Trypsin 1)1 2     Nonfunctional Trypsin 12
TRY11 2 3 5     Trypsin-11
Cationic Trypsinogen2 3     Trypsinogen 12
TRP12 3     Trypsinogen A2
TRYP12 3     Beta-Trypsin1
EC 3.4.21.43 8     Serine Protease 13
TRY42     Trypsin I3
Beta-Trypsin1     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


Summaries
for PRSS1 gene

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

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)


Genomic Views
for PRSS1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PRSS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC07P142641:  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

1 alternative location:
Chr7+,CRA_TCAG 141,828,623-141,832,231     

Proteins
for PRSS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Secreted, extracellular space
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

Post-translational modifications:

  • Occurs in a single-chain form and a two-chain form, produced by proteolytic cleavage after Arg-1221
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07477

    • 4/23 DME Specific Peptides for PRSS1 (P07477) (see all 23)
     EGGKDSC  PGVYTKV  CEASYPG  IQVRLGE 

    PRSS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002760.1  
    ENSEMBL proteins: 
     ENSP00000417854   ENSP00000308720   ENSP00000419912  
    Reactome Protein details: P07477
    Human Recombinant Protein Products: 
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    Novus Biologicals PRSS1 Proteins
    Novus Biologicals PRSS1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for PRSS1
    Uscn Proteins for PRSS1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--


    PRSS1 for ontologies           About GeneDecksing



    PRSS1 Antibody Products: 
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    ThermoFisher Antibodies for PRSS1

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    Uscn ELISAs and CLIAs for PRSS1

    Protein Domains /
    Families
    for PRSS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRSS1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for PRSS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: PRSS1
    OriGene siRNA: PRSS1
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PRSS1

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRSS1 

    Cell Line
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    Search LifeMap BioReagents cell lines for PRSS1

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for PRSS1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity TAS8841182
    GO:0046872metal ion binding IEA--


    PRSS1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for PRSS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Degradation of the extracellular matrix
    		Degradation of the extracellular matrix1.00
    		Activation of Matrix Metalloproteinases0.40
    2Activation of proMMP10
    		Activation of proMMP101.00
    3Protein digestion and absorption
    		Protein digestion and absorption1.00
    4Pancreatic secretion
    		Pancreatic secretion1.00
    5Activation of proMMP8
    		Activation of proMMP81.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for PRSS1
        Activation of proMMP8
    Extracellular matrix organization
    Activation of proMMP10
    Degradation of the extracellular matrix
    Activation of Matrix Metalloproteinases


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


    PRSS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRSS1

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

    5/33 Interacting proteins for PRSS1 (P074773 ENSP000003087204) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0007586digestion IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--


    PRSS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PRSS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PRSS1 for compounds           About GeneDecksing

    EMD Millipore small molecules for PRSS1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRSS1

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

    10/101 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 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)

    Search CenterWatch for drugs/clinical trials and news about PRSS1 / TRY1 

    Transcripts
    for PRSS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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)

    miRNA
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    Clone
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    Additional cDNA sequence: 

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

    24/69 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.100045926  DT.100828691  DT.101976063  DT.121076881  DT.91767689  DT.87078490 
    DT.100045920  DT.121076949  DT.100045929  DT.100828689  DT.121075945  DT.121076322  DT.121076801  DT.121075973 

    4 AceView cDNA sequences:

    CR627200 M22612 NM_002769 BC035777 

    GeneLoc Exon Structure


    Expression
    for PRSS1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRSS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PRSS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PRSS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRSS1

    SOURCE GeneReport for Unigene cluster: Hs.449281
        SABiosciences Custom PCR Arrays for PRSS1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRSS1
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for PRSS1

    Orthologs
    for PRSS1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PRSS1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LOC1008571241 trypsin I-P1-like 68.62(n)
    66.53(a)    		   100857124  XM_003640446.1  XP_003640494.1 
    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
    alphaTry1    		 trypsin3
    alphaTrypsin1    		 41(a)
    (best of 15)3
    52.04(n)1
    40.93(a)1    		   2 29F73
    483161  NM_057423.31  NP_476771.11 


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

    Paralogs
    for PRSS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRSS1 gene
    KLK102  KLK12  PRSS372  KLK42  KLK112  KLK72  KLK142  KLK92  
    KLK132  KLK62  KLK122  KLK22  KLK152  KLK52  PRSS582  PRSS32  
    KLK82  KLK32  
    18/121 SIMAP similar genes for PRSS1 using alignment to 17 protein entries:     TRY1_HUMAN (see all proteins) (see all similar genes):
    PRSS3    TRY6    TRY8    PRSS2    HAT    TMPRSS11B
    PRSS36    KLK8    TMPRSS11D    PRSS46    TMPRSS7    KLK6
    DESC1    F10    KLK5    TMPRSS13    ACR    OVCH2

    PRSS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PRSS1
    PGOHUM00000233021


    Genomic Variants
    for PRSS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/189 NCBI SNPs in PRSS1 are shown (see all 189)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1110335671,2
    		Cpathogenic141829737(+) TGACAA/GGATCG 2 K R mis10--------
    rs1110335661,2
    		Cpathogenic141829755(+) CTACAA/TCTGTG 2 N I mis10--------
    rs1444220141,2
    		Cpathogenic141829830(+) CATCAA/GCGAAC 2 N S mis11Minor allele frequency- G:0.00NA 4520
    rs1110335681,2
    		Cpathogenic141831092(+) ACGCCC/TGCGTG 2 R C mis10--------
    rs1994221231,2
    		Cunknown141831089(+) TCAACG/ACCCGC 2 /T /A mis11Minor allele frequency- A:0.00EU 1323
    rs1126824051,2
    		--141827229(+) TGGGTC/TTCCTG 1 -- us2k12Minor allele frequency- T:0.05CSA WA 120
    rs758702561,2
    		F,--141827325(+) TTGGCA/GTTATT 1 -- us2k11Minor allele frequency- G:0.09WA 118
    rs1127515351,2
    		C,--141827711(+) TACTGA/CGCCAA 1 -- us2k10--------
    rs731681661,2
    		--141827735(+) GCATCA/GAAAAT 1 -- us2k10--------
    rs20054621,2
    		H,,--141828896(+) ATATCC/TGAGTT 1 -- int16Minor allele frequency- T:0.02NS EA NA WA 538

    HapMap Linkage Disequilibrium report for PRSS1 (142457319 - 142460927 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for PRSS1
         9 CNVs: 94908 82208 30269 59388 10215 4566 4567 53795 9071
    Human Gene Mutation Database (HGMD): PRSS1

    Locus Specific Mutation Databases (LSDB): PRSS1

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRSS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PRSS1

    Disorders / Diseases
    for PRSS1 gene

    (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.)
    About This Section
    PRSS1 for disorders           About GeneDecksing

    OMIM gene information: 276000   
    OMIM disorders: 167800  
    UniProtKB/Swiss-Prot: TRY1_HUMAN, P07477
  • Defects in PRSS1 are a cause of pancreatitis (PCTT) [MIM:167800]. A disease characterized by the presence of
    • calculi in pancreatic ducts. It causes severe abdominal pain attacks

    20/41 diseases for PRSS1 (see all 41):    About MalaCards
    hereditary pancreatitis    pancreatitis    intestinal pseudo-obstruction    non-small cell lung carcinoma
    trypsinogen deficiency    tropical calcific pancreatitis    chylomicronemia syndrome    biliary tract cancer
    digestive diseases    cystic fibrosis    steatorrhea    primary hyperparathyroidism
    hepatitis c    familial pancreatic cancer    hyperparathyroidism    alcoholic pancreatitis
    pancreatic cancer    diabetes mellitus    lung carcinoma    fibrosis

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

    10/11 Novoseek 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

    Publications
    for PRSS1 gene

    (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)
    About This Section

    PubMed articles for PRSS1 gene, integrated from 9 sources (see all 223):
    (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. (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. (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. (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. (2004)
    5. Crystal structure of human trypsin 1: unexpected phosphorylation of Tyr151. (PubMed id 8683601)1, 2, 9 Gaboriaud C....Fontecilla-Camps J.-C. (1996)
    6. Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. (PubMed id 15776435)1, 2, 9 Teich N....Sahin-Toth M. (2005)
    7. CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia. (PubMed id 12120234)1, 4, 9 Gomez Lira M....Pignatti P.F. (2001)
    8. Gene mutations in children with chronic pancreatitis. (PubMed id 12120220)1, 4, 9 Witt H. (2001)
    9. Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). (PubMed id 14695529)1, 2, 9 Teich N....Sahin-Toth M. (2004)
    10. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. (PubMed id 10204851)1, 2, 9 Ferec C.... Le Bodic L. (1999)

    External Searches for PRSS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing PRSS1 gene

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

    Other Databases showing PRSS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRSS1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRSS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRSS1

    Intellectual Property
    for PRSS1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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