PRSS1 protease, serine, 1 (trypsin 1) [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: PRSS1provided by HGNC
Official Full Name: protease, serine, 1 (trypsin 1)provided by HGNC
Primary source: HGNC:9475
See related: Ensembl:ENSG00000204983; HPRD:02039; MIM:276000; Vega:OTTHUMG00000158923
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRP1; TRY1; TRY4; TRYP1; FLJ57296; MGC120175; MGC149362; DKFZp779A0837
Summary: 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]

Help top of page

Genomic context

Location :: 7q34

Sequence :: Chromosome: 7; NC_000007.13 (142457319..142460927)

See PRSS1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Mutations of PRSS1 gene may be an important factor of pancreatic cancer.
Title: Novel mutations of PRSS1 gene in patients with pancreatic cancer among Han population.
The -409 C/T genotype of PRSS1 was reveled to be a protective factor against pancreatic cancer in the Han Chinese population.
Title: The -409 C/T genotype of PRSS1 protects against pancreatic cancer in the Han Chinese population.
IVS 3+127 T>A and IVS 3+157 G>C mutation inthe PRSS1 gene were discovered in a subject with chronic pancreatitis, and one IVS 3+36 A>G mutation in the PRSS1 gene was found in 2 cases with pancreatic cancer.
Title: PRSS1 intron mutations in patients with pancreatic cancer and chronic pancreatitis.
Data shsow that alcoholic patients without coexisting high-risk PRSS1, CFTR, or SPINK1 variants had a significant overrepresentation of O blood type when compared with controls.
Title: ABO blood group and chronic pancreatitis risk in the NAPS2 cohort.
We believe that interaction between the novel IVS3+172 intronic variant and p.N29I mutation in the PRSS1 gene is associated with hereditary pancreatitis in this Malaysian Chinese family.
Title: Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family.
Data show that an intragenic duplication within the PRSS1 gene causing hereditary pancreatitis.
Title: Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.
Mutations in the PRSS1 gene (and SPINK1 gene) are highly associated with the development of childhood acute recurrent pancreatitis or chronic pancreatitis in Korean children.
Title: High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.
The frequency of the PRSS1 mutations was higher in patients with alcoholic chronic pancreatitis than in controls. The frequency of PRSS1 mutation was 21.4% of idiopathic chronic pancreatitis patients, which was significantly higher than that in controls.
Title: The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis.
the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.
Title: New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
there was a borderline statistically significant association between pancreatic cancer and HAT/HCT but no association between pancreatic cancer and HAT, HCT
Title: Pre-diagnostic levels of anionic trypsinogen, cationic trypsinogen, and pancreatic secretory trypsin inhibitor in relation to pancreatic cancer risk.

Submit: New GeneRIF Correction See all (61)

Help top of page

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Cleavage of HIV-1 gp120 with trypsin at residue 432 destroys CD4 binding	PubMed

Go to the HIV-1, Human Protein Interaction Database

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
P07477	Q01523	DEFA5	HPRD	PubMed
P07477	P29074	PTPN4	HPRD	PubMed
P07477	P01009	SERPINA1	HPRD	PubMed
P07477	Q9UIV8	SERPINB13	HPRD	PubMed
P07477	P50452	SERPINB8	HPRD	PubMed
P07477	P08697	SERPINF2	HPRD	PubMed
P07477	Q9NQ38	SPINK5	HPRD	PubMed
P07477	Q16762	TST	HPRD	PubMed
BioGRID:111626	BioGRID:111289	SERPINB8	BioGRID	PubMed	Reconstituted Complex
BioGRID:111626	BioGRID:111360	SERPINF2	BioGRID	PubMed	Biochemical Activity
BioGRID:111626	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info
peptidase activity	IEA Inferred from Electronic Annotation more info
serine-type endopeptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
digestion	IEA Inferred from Electronic Annotation more info
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: trypsin-1

Names: trypsin-1; beta-trypsin; trypsinogen 1; trypsinogen A; digestive zymogen; cationic trypsinogen; nonfunctional trypsin 1

NP_002760.1

EC 3.4.21.4

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_001333.2 Reference

Range

583136..586744

Download

GenBank, FASTA, Sequence Viewer (Graphics)
NG_008307.2 RefSeqGene

Range

4990..8598

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002769.4 → NP_002760.1 trypsin-1 preproprotein

Status: REVIEWED

Source sequence(s)

BC128226, BP321999, CA948204

Consensus CDS

CCDS5872.1

UniProtKB/Swiss-Prot

P07477

Related

ENSP00000308720, OTTHUMP00000213668, ENST00000311737, OTTHUMT00000352538

Conserved Domains (1) summary

cd00190
Location:24 – 242
Blast Score: 702

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

142457319..142460927

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p5 PATCHES

Genomic

NW_003571040.1 Reference GRCh37.p5 PATCHES

Range

932136..935744

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

136785804..136789412

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

141828623..141832231

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC231380.2 (26474..30082)	None
genomic	AF314534.1	AAG30943.1
genomic	AF315309.1	AAG30947.1
genomic	AF315310.1	AAG30948.1
genomic	AF315311.1	AAG30949.1
genomic	AY234116.1	AAP59550.1
genomic	AY234117.1	AAO85796.1
genomic	AY234118.1	AAO85797.1
genomic	AY234119.1	AAO85798.1
genomic	AY234120.1	AAO85799.1
genomic	AY234121.1	AAO85800.1
genomic	AY234122.1	AAO85801.1
genomic	AY234123.1	AAO85802.1
genomic	AY254094.1	AAP42827.1
genomic	AY254095.1	AAP42828.1
genomic	AY307359.1	AAP74363.1
genomic	AY307360.1	AAP74364.1
genomic	CH236959.1	EAL23773.1
genomic	CH471198.2	EAW51925.1
genomic	CS423469.1	CAL49864.1
genomic	DQ128082.1	AAZ40216.1
genomic	L36092.2	AAC80207.1
genomic	U70137.1	AAC50728.1
mRNA	AA835201.1	None
mRNA	AK293375.1	BAG56887.1
mRNA	AK312199.1	BAG35132.1
mRNA	BC035777.1	None
mRNA	BC128226.1	AAI28227.1
mRNA	BP321959.1	None
mRNA	BP321999.1	None
mRNA	CA948204.1	None
mRNA	CR627200.1	None
mRNA	DQ778083.1	ABI63347.1
mRNA	M22612.1	AAA61231.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P07477.1	GenPept	UniProtKB/Swiss-Prot:P07477
Q45KI0	GenPept	UniProtKB/TrEMBL:Q45KI0
Q53ZF3	GenPept	UniProtKB/TrEMBL:Q53ZF3
Q53ZV8	GenPept	UniProtKB/TrEMBL:Q53ZV8
Q53ZX7	GenPept	UniProtKB/TrEMBL:Q53ZX7
Q53ZX8	GenPept	UniProtKB/TrEMBL:Q53ZX8
Q53ZX9	GenPept	UniProtKB/TrEMBL:Q53ZX9
Q7Z445	GenPept	UniProtKB/TrEMBL:Q7Z445
Q7Z5P3	GenPept	UniProtKB/TrEMBL:Q7Z5P3
Q7Z5Y9	GenPept	UniProtKB/TrEMBL:Q7Z5Y9
Q86W17	GenPept	UniProtKB/TrEMBL:Q86W17
Q86W18	GenPept	UniProtKB/TrEMBL:Q86W18
Q86W19	GenPept	UniProtKB/TrEMBL:Q86W19
Q86W20	GenPept	UniProtKB/TrEMBL:Q86W20