Human Gene PRSS1 (ENST00000311737.12) from GENCODE V44
  Description: 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. (from UniProt P07477)
RefSeq Summary (NM_002769): 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].
Gencode Transcript: ENST00000311737.12
Gencode Gene: ENSG00000204983.15
Transcript (Including UTRs)
   Position: hg38 chr7:142,749,472-142,753,072 Size: 3,601 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr7:142,749,485-142,753,020 Size: 3,536 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:142,749,472-142,753,072)mRNA (may differ from genome)Protein (247 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: TRY1_HUMAN
DESCRIPTION: RecName: Full=Trypsin-1; EC=3.4.21.4; AltName: Full=Beta-trypsin; AltName: Full=Cationic trypsinogen; AltName: Full=Serine protease 1; AltName: Full=Trypsin I; Contains: RecName: Full=Alpha-trypsin chain 1; Contains: RecName: Full=Alpha-trypsin chain 2; Flags: Precursor;
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.
COFACTOR: Binds 1 calcium ion per subunit.
SUBCELLULAR LOCATION: Secreted, extracellular space.
PTM: Occurs in a single-chain form and a two-chain form, produced by proteolytic cleavage after Arg-122.
MASS SPECTROMETRY: Mass=24348; Mass_error=2; Method=Electrospray; Range=24-247; Source=PubMed:8683601;
DISEASE: 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.
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 1 peptidase S1 domain.
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.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRSS1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PRSS1
Diseases sorted by gene-association score: pancreatitis, hereditary* (1140), prss1-related hereditary pancreatitis* (100), trypsinogen deficiency* (50), pancreatitis (50), linitis plastica (22), alcoholic pancreatitis (11), pancreas disease (11), tropical calcific pancreatitis (11), pediatric ulcerative colitis (10), recurrent acute pancreatitis (9), duodenal obstruction (8), autoimmune pancreatitis (7), cystic fibrosis (7), pancreatic steatorrhea (6), 3mc syndrome (6), duodenal disease (5), pancreatic cancer (4), hereditary breast ovarian cancer (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 58972.40 RPKM in Pancreas
Total median expression: 59103.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -2.2052-0.042 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00089 - Trypsin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FXY - X-ray MuPIT 1TRN - X-ray MuPIT 2RA3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P07477
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006508 proteolysis
GO:0007586 digestion
GO:0009235 cobalamin metabolic process
GO:0022617 extracellular matrix disassembly

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  AB978170 - Homo sapiens mRNA for T cell receptor beta chain V-D-J-region, partial cds, isolate: Donor4-TRB127.
HM568174 - Homo sapiens clone HCV-TCR-18 T-cell receptor beta VJ region (TRB@) mRNA, partial cds.
JQ778262 - Homo sapiens clone 42 TCR beta chain mRNA, complete cds.
AB305926 - Homo sapiens mRNA for T cell receptor beta variable 7, partial cds, clone: SEB 303.
HM568191 - Homo sapiens clone HCV-TCR-35 T-cell receptor beta VJ region (TRB@) mRNA, partial cds.
HM568193 - Homo sapiens clone HCV-TCR-37 T-cell receptor beta VJ region (TRB@) mRNA, partial cds.
AK293375 - Homo sapiens cDNA FLJ57296 complete cds.
BC128225 - Homo sapiens protease, serine, 3 (mesotrypsin), mRNA (cDNA clone MGC:149361 IMAGE:40114571), complete cds.
BC128226 - Homo sapiens protease, serine, 1 (trypsin 1), mRNA (cDNA clone MGC:149362 IMAGE:40114572), complete cds.
CR627200 - Homo sapiens mRNA; cDNA DKFZp779A0837 (from clone DKFZp779A0837).
AK312199 - Homo sapiens cDNA, FLJ92487, Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.
KJ897390 - Synthetic construct Homo sapiens clone ccsbBroadEn_06784 PRSS1 gene, encodes complete protein.
KJ901668 - Synthetic construct Homo sapiens clone ccsbBroadEn_11062 PRSS3 gene, encodes complete protein.
M22612 - Human pancreatic trypsin 1 (TRY1) mRNA, complete cds.
BC103998 - Homo sapiens protease, serine, 1 (trypsin 1), mRNA (cDNA clone MGC:120175 IMAGE:40022561), complete cds.
AB528723 - Synthetic construct DNA, clone: pF1KB6984, Homo sapiens PRSS1 gene for protease, serine, 1, without stop codon, in Flexi system.
DQ778083 - Homo sapiens clone BFC06114 protease serine 1 mRNA, complete cds.
BC035777 - Homo sapiens protease, serine, 1 (trypsin 1), mRNA (cDNA clone IMAGE:5590402), with apparent retained intron.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P07477 (Reactome details) participates in the following event(s):

R-HSA-5693319 CTRC hydrolyses PRSS1
R-HSA-1592316 Initial activation of proMMP1
R-HSA-1602488 Initial activation of proMMP13 by plasmin and trypsin
R-HSA-1592371 Initial activation of proMMP3
R-HSA-1604712 Initial activation of proMMP7 by trypsin
R-HSA-1604722 Activation of proMMP9 by proteases
R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-1592389 Activation of Matrix Metalloproteinases
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1430728 Metabolism
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: A1A509, A6NJ71, B2R5I5, ENST00000311737.1, ENST00000311737.10, ENST00000311737.11, ENST00000311737.2, ENST00000311737.3, ENST00000311737.4, ENST00000311737.5, ENST00000311737.6, ENST00000311737.7, ENST00000311737.8, ENST00000311737.9, NR_172951, P07477, Q5NV57, Q7M4N3, Q7M4N4, Q92955, Q9HAN4, Q9HAN5, Q9HAN6, Q9HAN7, TRP1, TRY1, TRY1_HUMAN, TRYP1, uc003wak.1, uc003wak.2, uc003wak.3, uc003wak.4
UCSC ID: ENST00000311737.12
RefSeq Accession: NM_002769
Protein: P07477 (aka TRY1_HUMAN)
CCDS: CCDS5872.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PRSS1:
pancreatitis-ov (Pancreatitis Overview)
prss1-hp (PRSS1-Related Hereditary Pancreatitis)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.