Free for academic non-profit institutions. Other users need a Commercial license
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]
PRSS1 (Serine Protease 1) is a Protein Coding gene. Diseases associated with PRSS1 include Pancreatitis, Hereditary and Pancreatitis. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PRSS2.
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 | 600.7 | +0.9 | 866 | 2.6 | SCRT2 CTCF ZNF316 SMC3 MAFG NFE2 EMSY MAFK ETV6 | PRSS1 TRBV29-1 TRBV28 NONHSAG049014.2-001 PRSS2 lnc-PRSS2-6 TRB | |
GH07J142748 | Promoter/Enhancer | 0.6 | EPDnew ENCODE | 600.4 | +9.1 | 9084 | 0.9 | ATF4 | NONHSAG049014.2-001 PRSS1 TRBV28 PRSS2 TRB lnc-PRSS2-6 | |
GH07J142760 | Promoter | 0.7 | EPDnew | 0.4 | +20.1 | 20148 | 0.1 | PRDM10 FOSL1 CEBPG ATF4 ATF3 ID3 ZEB2 FOS IKZF1 ARID1B | PRSS2 PRSS3P1 NONHSAG049014.2-001 PRSS1 TRB lnc-PRSS2-6 | |
GH07J142754 | Enhancer | 0.6 | Ensembl ENCODE | 0.4 | +14.5 | 14507 | 1.1 | FOSL1 JUN CBFA2T2 | TRBV28 NONHSAG049014.2-001 PRSS2 PRSS1 lnc-PRSS2-6 TRB | |
GH07J142745 | Enhancer | 0.3 | Ensembl | 0.4 | +5.8 | 5766 | 1.6 | FOSL1 NFIC | TRBV29-1 TRBV28 NONHSAG049014.2-001 PRSS1 PRSS2 lnc-PRSS2-6 TRB |
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 | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Degradation of the extracellular matrix | ||
2 | Metabolism of water-soluble vitamins and cofactors | ||
3 | Measles |
.33
|
|
4 | Peptide ligand-binding receptors | ||
5 | Pancreatic secretion |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Aprotinin | Approved, Investigational, Withdrawn | Pharma | Target | Inhibitor of bovine pancreatic trypsin | 25 | |
Camostat | Experimental | Pharma | Target, inhibitor | 6 | ||
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Cyclohexane |
|
110-82-7 | ||||
Hexane |
|
110-54-3 |
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC742453 30 |
|
||
PRSS1 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Try10 30 17 31 |
|
ManyToMany | |
Prss1 31 |
|
ManyToMany | |||
Try4 31 |
|
ManyToMany | |||
Gm10334 31 |
|
ManyToMany | |||
Prss3 31 |
|
ManyToMany | |||
Gm5771 31 |
|
ManyToMany | |||
Try5 31 |
|
ManyToMany | |||
Prss2 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | PRSS2 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Chicken (Gallus gallus) |
Aves | PRSS3 31 31 |
|
ManyToMany | |
PRSS2 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | try 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10663 30 |
|
||
CG4386 32 |
|
|
|||
Try29F 32 |
|
|
|||
CG6041 32 |
|
|
|||
&lgr;Try 32 |
|
|
|||
CG5197 32 |
|
|
|||
&zgr;Try 32 |
|
|
|||
&egr;Try 32 |
|
|
|||
CG17239 32 |
|
|
|||
CG17571 32 |
|
|
|||
CG7829 32 |
|
|
|||
CG16998 32 |
|
|
|||
&eegr;Try 32 |
|
|
|||
CG6048 32 |
|
|
|||
CG10405 32 |
|
|
|||
&kgr;Try 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4556 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
CSA.4402 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640389 | Uncertain Significance: Hereditary pancreatitis; Inborn genetic diseases | 142,751,820(+) | G/C | MISSENSE_VARIANT | |
643465 | Uncertain Significance: Hereditary pancreatitis; Inborn genetic diseases | 142,751,856(+) | C/T | MISSENSE_VARIANT | |
643538 | Uncertain Significance: Hereditary pancreatitis | 142,750,677(+) | G/C | MISSENSE_VARIANT | |
645885 | Uncertain Significance: Hereditary pancreatitis | 142,750,617(+) | G/T | MISSENSE_VARIANT | |
649159 | Uncertain Significance: Hereditary pancreatitis | 142,752,431(+) | C/G | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pancreatitis, hereditary |
|
|
pancreatitis |
|
|
linitis plastica |
|
|
autoimmune pancreatitis |
|
|
trypsinogen deficiency |
|
|