PRSS1 Gene (Protein Coding)

Serine Protease 1

GC07P145484
GIFtS:
47
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 trypsinoge... See more...

Aliases for PRSS1 Gene

Aliases for PRSS1 Gene

  • Serine Protease 1 2 3 4 5
  • Cationic Trypsinogen 3 4
  • Protease, Serine 1 2 3
  • Beta-Trypsin 3 4
  • EC 3.4.21.4 4 50
  • Trypsin-1 3 4
  • TRYP1 3 4
  • TRP1 3 4
  • TRY1 3 4
  • Nonfunctional Trypsin 1 3
  • Digestive Zymogen 3
  • TCR V Beta 4.1 3
  • Trypsinogen 1 3
  • Trypsinogen A 3
  • Trypsin 1 2
  • Trypsin I 4
  • EC 3.4.21 50
  • PRSS1 5
  • TRY4 3

External Ids for PRSS1 Gene

Previous HGNC Symbols for PRSS1 Gene

  • TRY1

Previous GeneCards Identifiers for PRSS1 Gene

  • GC07P140730
  • GC07P141820
  • GC07P141898
  • GC07P141901
  • GC07P141675
  • GC07P141943
  • GC07P142136
  • GC07P142458
  • GC07P142461
  • GC07P142572
  • GC07P142641
  • GC07P142711
  • GC07P142773
  • GC07P142841
  • GC07P142887
  • GC07P144204
  • GC07P144338
  • GC07P144468
  • GC07P144706
  • GC07P143017
  • GC07P143165
  • GC07P143364
  • GC07P143513
  • GC07P143642
  • GC07P143784
  • GC07P143922
  • GC07P144058
  • GC07P144938
  • GC07P145196

Summaries for PRSS1 Gene

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 (Serine Protease 1) is a Protein Coding gene. Diseases associated with PRSS1 include Pancreatitis, Hereditary and Prss1-Related Hereditary Pancreatitis. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PRSS2.

UniProtKB/Swiss-Prot Summary for PRSS1 Gene

  • 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 Gene

Additional gene information for PRSS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRSS1 Gene

Genomics for PRSS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PRSS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J142742 Enhancer 0.7 Ensembl ENCODE 250.7 +0.9 866 2.6 SMC3 ZNF316 CTCF MAFG MAFK ETV6 SCRT2 EMSY TRBV29-1 PRSS1 TRBV28 HSALNG0061904 NONHSAG049014.2-001 PRSS2 lnc-PRSS2-6 TRB
GH07J142748 Promoter/Enhancer 0.7 EPDnew ENCODE 250.4 +9.1 9084 0.9 ATF4 EP300 HSALNG0061904 NONHSAG049014.2-001 PRSS1 TRBV28 PRSS2 lnc-PRSS2-6 TRB
GH07J142754 Enhancer 0.4 Ensembl ENCODE 0.4 +14.4 14387 0.9 CBFA2T2 TRBV28 HSALNG0061904 PRSS2 PRSS1 lnc-PRSS2-6 TRB
GH07J142750 Enhancer 0.3 Ensembl 0.4 +10.2 10166 0.8 GLIS1 EP300 HSALNG0061904 NONHSAG049014.2-001 PRSS2 PRSS1 lnc-PRSS2-6 TRB
GH07J142745 Enhancer 0.3 Ensembl 0.4 +5.8 5766 1.6 NFIC TRBV29-1 TRBV28 HSALNG0061904 NONHSAG049014.2-001 PRSS1 PRSS2 lnc-PRSS2-6 TRB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRSS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRSS1

Top Transcription factor binding sites by QIAGEN in the PRSS1 gene promoter:
  • AML1a
  • FOXO4
  • ITF-2
  • LCR-F1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Tal-1beta
  • Zic3

Genomic Locations for PRSS1 Gene

Latest Assembly
chr7:142,740,235-142,753,076
(GRCh38/hg38)
Size:
12,842 bases
Orientation:
Plus strand

Previous Assembly
chr7:142,457,323-142,460,923
(GRCh37/hg19 by Entrez Gene)
Size:
3,601 bases
Orientation:
Plus strand

chr7:142,457,319-142,460,923
(GRCh37/hg19 by Ensembl)
Size:
3,605 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr7(ALT_REF_LOCI_1):752,069-755,669 (+)

Genomic View for PRSS1 Gene

Genes around PRSS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRSS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PRSS1 Gene

Proteins for PRSS1 Gene

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  • Protein details for PRSS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07477-TRY1_HUMAN
    Recommended name:
    Trypsin-1
    Protein Accession:
    P07477
    Secondary Accessions:
    • A1A509
    • A6NJ71
    • B2R5I5
    • Q5NV57
    • Q7M4N3
    • Q7M4N4
    • Q92955
    • Q9HAN4
    • Q9HAN5
    • Q9HAN6
    • Q9HAN7

    Protein attributes for PRSS1 Gene

    Size:
    247 amino acids
    Molecular mass:
    26558 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PRSS1 Gene

neXtProt entry for PRSS1 Gene

Protein Expression for PRSS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PRSS1 Gene

P07477:
  • IQVRLGE
  • GADYPDEL
  • DIMLIKL
  • DSGGPVVCNG
  • CLISGWG
  • CNGQLQG
  • EGGKDSC
  • GYHFCGGSLI
  • NDIMLIKL
  • GFLEGGKDSC
  • VRLGEHNI
  • FCGGSLI
  • LQCLDAP
  • PGVYTKV
  • DSCQGDSGG
  • CEASYPG
  • HFCGGSL
  • VRLGEHN
  • LQGVVSWG
  • CQGDSGGP
  • GCAQKNKPGVYTKV
  • DKIVGGY
  • PGVYTKVYNYV

Post-translational modifications for PRSS1 Gene

  • Occurs in a single-chain form and a two-chain form, produced by proteolytic cleavage after Arg-122.
  • Sulfation at Tyr-154 increases selectivity towards basic versus apolar residues at the P2' position of inhibitors that bind in a substrate-like fashion. Although the increase in selectivity is relatively small, it may facilitate digestion of a broader range of dietary proteins.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRSS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PRSS1 Gene

Gene Families for PRSS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PRSS1 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for PRSS1 Gene

GenScript: Design optimal peptide antigens:
  • PRSS1 protein (Q3SY19_HUMAN)
  • Trypsin I (Q45KI0_HUMAN)
  • Cationic trypsinogen (Q53ZF3_HUMAN)
  • Nonfunctional trypsin 1 (Q53ZV8_HUMAN)
  • Protease serine 1 (Q53ZX7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07477

UniProtKB/Swiss-Prot:

TRY1_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PRSS1: view

Function for PRSS1 Gene

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  6. Cell Lines for research

Molecular function for PRSS1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.; EC=3.4.21.4;.
GENATLAS Biochemistry:
protease serine 1,trypsin 1,expressed in pancreas

Enzyme Numbers (IUBMB) for PRSS1 Gene

Phenotypes From GWAS Catalog for PRSS1 Gene

Gene Ontology (GO) - Molecular Function for PRSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,TAS 8841182
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PRSS1: view
genes like me logo Genes that share phenotypes with PRSS1: view

Human Phenotype Ontology for PRSS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRSS1

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRSS1 Gene

Localization for PRSS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRSS1 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRSS1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0062023 collagen-containing extracellular matrix HDA 28675934
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with PRSS1: view

Pathways & Interactions for PRSS1 Gene

genes like me logo Genes that share pathways with PRSS1: view

SIGNOR curated interactions for PRSS1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PRSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IBA 21873635
GO:0007586 digestion IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with PRSS1: view

Drugs & Compounds for PRSS1 Gene

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(113) Drugs for PRSS1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aprotinin Approved, Investigational, Withdrawn Pharma Target Inhibitor of bovine pancreatic trypsin 28
Camostat Experimental Pharma Target, inhibitor 27
Benzylamine Experimental Pharma Target 0
(1R,2S)-2-Phenylcyclopropanaminium Experimental Pharma Target 0
(2S,3R)-2-[[4-(Tert-butylcarbamoyl)piperazine-1-carbonyl]amino]-6-(diaminomethylideneamino)-3-formylhexanoic acid Experimental Pharma Target 0

(5) Additional Compounds for PRSS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cyclohexane
  • Cyclohexan
  • Hexahydrobenzene
  • Hexamethylene
  • Hexanaphthene
  • Hexahydro-benzene
 110-82-7
Hexane
  • CH3-[CH2]4-CH3
  • Hexan
  • N-Hexane
  • N-Hexane, 2-(13)C-labeled CPD
  • N-Hexane, 3-(13)C-labeled CPD
 110-54-3

(6) ApexBio Compounds for PRSS1 Gene

Compound Action Cas Number
AEBSF.HCl Serine protease inhibitor 30827-99-7
Aprotinin Inhibitor of bovine pancreatic trypsin 9087-70-1
Leupeptin, Microbial Inhibitor of serine and cysteine proteases 103476-89-7
Nafamostat 81525-10-2
Nafamostat hydrochloride 80251-32-7
Nafamostat Mesylate(FUT-175) Serine protease inhibitor 82956-11-4
genes like me logo Genes that share compounds with PRSS1: view

Transcripts for PRSS1 Gene

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mRNA/cDNA for PRSS1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRSS1

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS1 Gene

No ASD Table

Relevant External Links for PRSS1 Gene

GeneLoc Exon Structure for
PRSS1

Expression for PRSS1 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRSS1 Gene

mRNA expression in normal human tissues for PRSS1 Gene
mRNA expression by GTEx for PRSS1 GenemRNA expression by BioGPS for PRSS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRSS1 Gene

This gene is overexpressed in Pancreas (x52.8).

Protein differential expression in normal tissues from HIPED for PRSS1 Gene

This gene is overexpressed in Pancreatic juice (35.9) and Pancreas (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRSS1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRSS1

SOURCE GeneReport for Unigene cluster for PRSS1 Gene:

Hs.449281

Evidence on tissue expression from TISSUES for PRSS1 Gene

  • Pancreas(5)
  • Nervous system(4.4)
  • Liver(4.3)
  • Heart(2.6)
  • Stomach(2.6)
  • Muscle(2.6)
  • Intestine(2.4)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRSS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with PRSS1: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PRSS1 Gene

Orthologs for PRSS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRSS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LOC742453 29
  • 97.3 (n)
PRSS1 30
  • 92 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Try10 29 16 30
  • 82.66 (n)
 ManyToMany
Prss1 30
  • 77 (a)
 ManyToMany
Try4 30
  • 77 (a)
 ManyToMany
Gm10334 30
  • 77 (a)
 ManyToMany
Prss3 30
  • 77 (a)
 ManyToMany
Gm5771 30
  • 77 (a)
 ManyToMany
Try5 30
  • 76 (a)
 ManyToMany
Prss2 30
  • 75 (a)
 ManyToMany
Dog
(Canis familiaris)
 Mammalia -- 30
  • 80 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 77 (a)
 ManyToMany
-- 30
  • 74 (a)
 ManyToMany
-- 30
  • 69 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia PRSS2 30
  • 77 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 68 (a)
 ManyToMany
-- 30
  • 68 (a)
 ManyToMany
-- 30
  • 67 (a)
 ManyToMany
-- 30
  • 65 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves PRSS3 30 30
  • 67 (a)
 ManyToMany
PRSS2 30
  • 66 (a)
 ManyToMany
-- 30
  • 65 (a)
 ManyToMany
-- 30
  • 55 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 69 (a)
 ManyToMany
-- 30
  • 66 (a)
 ManyToMany
Zebrafish
(Danio rerio)
 Actinopterygii try 29 30
  • 68 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CG10663 29
  • 47.64 (n)
CG4386 31
  • 41 (a)
Try29F 31
  • 41 (a)
CG6041 31
  • 37 (a)
&lgr;Try 31
  • 37 (a)
CG5197 31
  • 36 (a)
&zgr;Try 31
  • 36 (a)
&egr;Try 31
  • 36 (a)
CG17239 31
  • 35 (a)
CG17571 31
  • 35 (a)
CG7829 31
  • 34 (a)
CG16998 31
  • 34 (a)
&eegr;Try 31
  • 33 (a)
CG6048 31
  • 33 (a)
CG10405 31
  • 33 (a)
&kgr;Try 31
  • 33 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.4556 30
  • 45 (a)
 ManyToMany
-- 30
  • 44 (a)
 ManyToMany
CSA.4402 30
  • 43 (a)
 ManyToMany
-- 30
  • 43 (a)
 ManyToMany
-- 30
  • 42 (a)
 ManyToMany
Species where no ortholog for PRSS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PRSS1 Gene

ENSEMBL:
Gene Tree for PRSS1 (if available)
TreeFam:
Gene Tree for PRSS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRSS1: view image
Alliance of Genome Resources:
Additional Orthologs for PRSS1

Paralogs for PRSS1 Gene

Paralogs for PRSS1 Gene

(119) SIMAP similar genes for PRSS1 Gene using alignment to 17 proteins:

  • TRY1_HUMAN
  • E7EQ64_HUMAN
  • H0Y8D1_HUMAN
  • Q3SY19_HUMAN
  • Q45KI0_HUMAN
  • Q53ZF3_HUMAN
  • Q53ZV8_HUMAN
  • Q53ZX7_HUMAN
  • Q53ZX8_HUMAN
  • Q53ZX9_HUMAN
  • Q7Z445_HUMAN
  • Q7Z5P3_HUMAN
  • Q7Z5Y9_HUMAN
  • Q86W17_HUMAN
  • Q86W18_HUMAN
  • Q86W19_HUMAN
  • Q86W20_HUMAN

Pseudogenes.org Pseudogenes for PRSS1 Gene

genes like me logo Genes that share paralogs with PRSS1: view

Variants for PRSS1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRSS1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1002983 Uncertain Significance: Hereditary pancreatitis 142,751,964(+) G/A
NM_002769.5(PRSS1):c.391G>A (p.Ala131Thr) 		MISSENSE
1004597 Uncertain Significance: Hereditary pancreatitis 142,752,524(+) T/C
NM_002769.5(PRSS1):c.548T>C (p.Met183Thr) 		MISSENSE
1005566 Uncertain Significance: Hereditary pancreatitis 142,753,010(+) C/T
NM_002769.5(PRSS1):c.734C>T (p.Ala245Val) 		MISSENSE
1005644 Uncertain Significance: Hereditary pancreatitis 142,751,973(+) G/A
NM_002769.5(PRSS1):c.400G>A (p.Ala134Thr) 		MISSENSE
1010446 Uncertain Significance: Hereditary pancreatitis 142,752,505(+) G/A
NM_002769.5(PRSS1):c.529G>A (p.Gly177Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PRSS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PRSS1 Gene

Variant ID Type Subtype PubMed ID
dgv11644n54 CNV loss 21841781
dgv11652n54 CNV loss 21841781
dgv1968e212 CNV gain 25503493
dgv1969e212 CNV loss 25503493
dgv841n27 CNV loss 19166990
esv2735271 CNV deletion 23290073
esv2759569 CNV loss 17122850
esv3291162 CNV duplication 24192839
esv34617 CNV loss 17911159
esv3576450 CNV gain 25503493
esv3615288 CNV loss 21293372
nsv1018286 CNV gain 25217958
nsv1021910 CNV gain 25217958
nsv1024031 CNV loss 25217958
nsv1028035 CNV loss 25217958
nsv1029719 CNV loss 25217958
nsv1111346 CNV tandem duplication 24896259
nsv1124276 CNV deletion 24896259
nsv428187 CNV loss 18775914
nsv465148 CNV loss 19166990
nsv470396 CNV loss 18288195
nsv515039 CNV gain 21397061
nsv818563 CNV loss 17921354
nsv819176 CNV loss 19587683
nsv824336 CNV loss 20364138
nsv831166 CNV gain+loss 17160897
nsv831167 CNV gain+loss 17160897

Variation tolerance for PRSS1 Gene

Residual Variation Intolerance Score: 80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRSS1 Gene

Human Gene Mutation Database (HGMD)
PRSS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRSS1
Leiden Open Variation Database (LOVD)
PRSS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS1 Gene

Disorders for PRSS1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for PRSS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
pancreatitis, hereditary
  • pctt
prss1-related hereditary pancreatitis
trypsinogen deficiency
  • pancreatic trypsinogen deficiency
pancreatitis
linitis plastica
  • leather-bottle stomach
- elite association - COSMIC cancer census association via MalaCards
Search PRSS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRY1_HUMAN
  • Pancreatitis, hereditary (PCTT) [MIM:167800]: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. {ECO:0000269 PubMed:10204851, ECO:0000269 PubMed:10381903, ECO:0000269 PubMed:10930381, ECO:0000269 PubMed:11073545, ECO:0000269 PubMed:11788572, ECO:0000269 PubMed:11866271, ECO:0000269 PubMed:14695529, ECO:0000269 PubMed:15776435, ECO:0000269 PubMed:8841182, ECO:0000269 PubMed:9322498, ECO:0000269 PubMed:9633818}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for PRSS1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PRSS1: view

No data available for Genatlas for PRSS1 Gene

Publications for PRSS1 Gene

  1. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. (PMID: 10204851) Férec C … Le Bodic L (Journal of medical genetics 1999) 3 4 22 72
  2. The natural history of hereditary pancreatitis: a national series. (PMID: 18755888) Rebours V … Lévy P (Gut 2009) 3 22 40
  3. Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects. (PMID: 19433603) Chang YT … Chang MC (Gut 2009) 3 22 40
  4. Prevalence of pancreatic diabetes in patients carrying mutations or polymorphisms of the PRSS1 gene in the Han population. (PMID: 20001681) Liu QC … Wang ZQ (Diabetes technology & therapeutics 2009) 3 22 40
  5. Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. (PMID: 19690177) McWilliams RR … Petersen GM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 40

ExternalLinks

View latest publications for PRSS1 gene in Mastermind

Products for PRSS1 Gene

Sources for PRSS1 Gene