Trypsin-1 (PRSS1)
The protein contains 247 amino acids for an estimated molecular weight of 26558 Da.
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. (updated: March 4, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
Biological Process
Cobalamin metabolic process
Digestion
Extracellular matrix disassembly
Extracellular matrix organization
Proteolysis
Small molecule metabolic process
Vitamin metabolic process
Water-soluble vitamin metabolic process
Cellular Component
Blood microparticle
Collagen-containing extracellular matrix
Extracellular exosome
Extracellular region
Extracellular space
Molecular Function
Metal ion binding
Serine-type endopeptidase activity
Serine-type peptidase activity
The reference OMIM entry for this protein is 167800
Pancreatitis, hereditary; pctt
Hpc
Hp
Pancreatitis, chronic pancreatitis, chronic, susceptibility to, included
Pancreatitis, calcific, included
Pancreatitis, chronic, protection against, included
A number sign (#) is used with this entry because of evidence that chronic pancreatitis can be caused by mutation in the cationic trypsinogen gene PRSS1 (276000) and the SPINK1 gene (167790). Furthermore, idiopathic pancreatitis has been found to be associated with mutations in the cystic fibrosis gene (CFTR; 602421). A missense variant in the PRSS2 gene (601564.0001) confers protection against chronic pancreatitis. Variants in the chymotrypsin C gene (601405) that diminish activity or secretion are associated with chronic pancreatitis.
CLINICAL FEATURES
Gross et al. (1962) described a kindred with affected persons in 4 generations. Four other families had been reported from the Mayo Clinic, including the first reported example by Comfort and Steinberg (1952). A puzzling feature was the urinary excretion of lysine and cystine by about half the members of affected kindreds (with or without pancreatitis). Cystine urinary stones had not been observed. Singer and Cohen (1966) reported onset at about age 20 in a man whose younger sister and a cousin were similarly affected. The attacks were characterized by severe abdominal pains, fever, and marked elevation of serum amylase. Except for the last symptom, differentiation from familial Mediterranean fever (249100), also called 'familial paroxysmal peritonitis,' might be difficult. The aminoaciduria was almost certainly an incidental finding since family members without pancreatitis showed it and because other families with pancreatitis have not had this feature (Davidson et al., 1968). Robechek (1967) observed a family in which 5 individuals had hereditary chronic relapsing pancreatitis, 3 of whom obtained symptomatic relief after sphincterotomy or section of the hypertrophied sphincter of Oddi. Robechek (1967) suggested that hypertrophy of the sphincter of Oddi together with a common ampulla of the biliary and pancreatic ducts may be the inherited factor. Mann and Rubin (1969) described a 17-month-old boy with steatorrhea whose 26-year-old brother and mother had steatorrhea and pancreatic calcification. Hereditary pancreatitis occurs with hyperparathyroidism in the multiple endocrine adenomatosis syndrome (131100). McElroy and Christiansen (1972) described a family in which 10 persons had definite pancreatitis and 16 others may have been affected. They pointed out that thrombosis in the portal or splenic vein occurs with significant frequency. Sibert (1978) identified 72 patients in 7 families in England and Wales. Penetrance was about 80%. The mean age of onset was 13.6 years. There were 2 peaks, one at 5 years and one at 17 years. The second peak was thought to represent genetically susceptible persons with symptoms precipitated by alcohol, rather than genetic heterogeneity. In 5 of the families, members with both childhood and adult onset were identified. In most cases the attacks were of nuisance value only. Only 4 of the 72 patients had life-threatening disease. Pancreatic insufficiency (5.5%), diabetes mellitus (12.5%), pseudocysts (5.5%) and hemorrhagic pleural effusion were observed. Portal vein thrombosis occurred in 2 and was suspected in 3 others. Patients seemed to improve later in life. Attacks were precipitated by emotional upset, alcohol, or high fat intake. Sarles et al. (1982) pointed out that chronic calcifying pancreatitis is characterized by pancreatic stones in the ducts and acini. They had shown that 'stone protein' (see 167770) inhibits in vitro calcium carbo ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 25, 2017: Additional information
No protein expression data in P. Mayeux work for PRSS1
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 167800 was added.
Jan. 28, 2016: Protein entry updated
Automatic update: model status changed
Jan. 25, 2016: Protein entry updated
Automatic update: model status changed