PRCP
prolylcarboxypeptidase
Summary
This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3750931 | 11:82,535,943 | G/C | 3 prime UTR variant | — |
| rs746515533 | 11:82,535,996 | C/T | — | uncertain significance |
| rs759180366 | 11:82,536,000 | T/C | — | uncertain significance |
| rs756151050 | 11:82,536,035 | C/T | — | uncertain significance |
| rs747931538 | 11:82,536,060 | C/T | — | uncertain significance |
| rs372175092 | 11:82,536,061 | G/A | — | uncertain significance |
| rs1358193893 | 11:82,536,097 | C/A | — | uncertain significance |
| rs200329943 | 11:82,536,135 | C/T | — | uncertain significance |
| rs758221645 | 11:82,536,149 | G/T | — | not provided |
| rs140748781 | 11:82,549,460 | T/C | — | uncertain significance |
| rs781206607 | 11:82,549,478 | T/C | — | uncertain significance |
| rs1393743129 | 11:82,549,481 | T/G | — | uncertain significance |
| rs138336049 | 11:82,549,574 | C/T | — | uncertain significance |
| rs142946438 | 11:82,550,340 | G/T | — | benign |
| rs199651564 | 11:82,550,398 | G/C | — | uncertain significance |
| rs1392049544 | 11:82,560,157 | A/T | — | uncertain significance |
| rs377663573 | 11:82,560,990 | C/A | — | uncertain significance |
| rs140634119 | 11:82,561,019 | C/T | — | uncertain significance |
| rs745466670 | 11:82,561,026 | C/G | — | uncertain significance |
| rs2495652841 | 11:82,561,081 | A/G | — | uncertain significance |
| rs145127979 | 11:82,561,083 | C/G | — | uncertain significance |
| rs2229437 | 11:82,564,294 | T/A | missense variant | — |
| rs569955088 | 11:82,564,312 | C/T | — | uncertain significance |
| rs141994635 | 11:82,571,070 | T/C | — | benign |
| rs201092188 | 11:82,571,116 | C/T | — | uncertain significance |
| rs2121177234 | 11:82,571,137 | G/A | — | uncertain significance |
| rs10898041 | 11:82,571,314 | G/A | intron variant | — |
| rs7104980 | 11:82,575,195 | C/G | regulatory region variant | — |
| rs2121297161 | 11:82,611,387 | T/C | — | uncertain significance |
| rs2495781809 | 11:82,611,399 | G/A | — | uncertain significance |
| rs149555987 | 11:82,611,429 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.