CPN1
carboxypeptidase N subunit 1
Summary
Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4295981 | 10:101,803,425 | C/T | regulatory region variant | — |
| rs71488044 | 10:101,804,804 | A/G | — | — |
| rs11599750 | 10:101,805,442 | C/T | intron variant | — |
| rs74152937 | 10:101,805,621 | G/A | intron variant | — |
| rs143121841 | 10:101,808,519 | G/A | — | uncertain significance |
| rs1589470177 | 10:101,808,526 | C/T | — | not provided |
| rs1379643152 | 10:101,808,595 | T/C | — | uncertain significance |
| rs372376426 | 10:101,808,612 | C/T | — | uncertain significance |
| rs766856472 | 10:101,808,628 | G/A | — | uncertain significance |
| rs7084921 | 10:101,813,802 | C/T | intron variant | — |
| rs757566813 | 10:101,816,799 | G/A | — | uncertain significance |
| rs144627537 | 10:101,816,805 | C/T | — | uncertain significance |
| rs4462272 | 10:101,823,543 | T/C | intron variant | — |
| rs12769220 | 10:101,824,301 | T/C | intron variant | — |
| rs3750717 | 10:101,824,954 | G/A | — | benign |
| rs74152964 | 10:101,824,957 | C/T | — | benign |
| rs2493398760 | 10:101,825,006 | C/G | — | uncertain significance |
| rs777954396 | 10:101,825,036 | T/C | — | uncertain significance |
| rs757428196 | 10:101,825,063 | T/C | — | uncertain significance |
| rs147649421 | 10:101,825,103 | T/G | — | uncertain significance |
| rs2041449073 | 10:101,825,121 | G/A | — | uncertain significance |
| rs762663505 | 10:101,829,487 | T/C | — | uncertain significance |
| rs61751507 | 10:101,829,514 | C/T | missense variant | benign |
| rs370836779 | 10:101,835,679 | C/A | — | uncertain significance |
| rs2493409055 | 10:101,835,721 | T/C | — | uncertain significance |
| rs757656853 | 10:101,835,745 | C/T | — | uncertain significance |
| rs61754515 | 10:101,835,764 | C/G | — | benign |
| rs146812654 | 10:101,835,766 | G/A | — | uncertain significance |
| rs775824980 | 10:101,835,789 | G/A | — | uncertain significance |
| rs138185881 | 10:101,835,819 | G/A | — | likely benign |
| rs374239992 | 10:101,835,850 | T/C | — | uncertain significance |
| rs370027071 | 10:101,841,162 | G/A | — | likely benign |
| rs1052830748 | 10:101,841,213 | C/G | — | uncertain significance |
| rs61733668 | 10:101,841,232 | T/C | missense variant | — |
| rs751706282 | 10:101,841,282 | G/A | — | uncertain significance |
| rs773064523 | 10:101,841,293 | A/T | — | uncertain significance |
| rs758527116 | 10:101,841,312 | C/G | — | uncertain significance |
| rs4606421 | 10:101,842,769 | C/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.