Carboxypeptidase N catalytic chain (CPN1)
The protein contains 458 amino acids for an estimated molecular weight of 52286 Da.
Protects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation. (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
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.
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| Variant | Description |
|---|---|
| CPND |
The reference OMIM entry for this protein is 212070
Carboxypeptidase n deficiency
A number sign (#) is used with this entry because of evidence that some cases of carboxypeptidase N deficiency are caused by mutation in the CPN1 gene (603103) on chromosome 10.
CLINICAL FEATURES
Carboxypeptidase N is a serum alpha globulin metalloenzyme that inactivates C3a, C4a, C5a, bradykinin, kallidin, and fibrinopeptides. Mathews et al. (1980) found a low level of this enzyme (21% of normal) in a 65-year-old man with an 11-year history of episodic angioedema occurring about 40 times a year. The attacks, which lasted about 24 hours, most often involved the face and tongue but sometimes involved larger areas of pruritic, red swellings on the trunk or limbs. His sister had an equally depressed level of enzyme activity. Six children of these 2 sibs had intermediate levels consistent with heterozygous status. Multiple members of the family had allergic manifestations, i.e., angioedema/chronic urticaria, hay fever/asthma, or both.MOLECULAR GENETICS
By sequencing the CPN1 gene in genomic DNA extracted from cells of the index patient reported by Mathews et al. (1980), Cao and Hegele (2003) demonstrated that the allergic manifestations in this family were due to presumed compound heterozygosity for 2 mutations in the CPN1 gene (see 603103.0001 and 603103.0002). ... More on the omim web site
Feb. 22, 2019: Protein entry updated
Automatic update: comparative model was added.
Feb. 22, 2019: Protein entry updated
Automatic update: model status changed
Nov. 17, 2018: Protein entry updated
Automatic update: OMIM entry 212070 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).