PCSK5
proprotein convertase subtilisin/kexin type 5
Summary
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]
Known Variants90 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76937529 | 9:78,505,692 | C/T | regulatory region variant | — |
| rs914951971 | 9:78,506,113 | C/T | — | uncertain significance |
| rs34813806 | 9:78,506,181 | C/A | — | benign |
| rs7040769 | 9:78,506,187 | T/C | — | benign |
| rs140882057 | 9:78,506,232 | G/A | — | benign |
| rs2489484087 | 9:78,506,279 | A/G | — | uncertain significance |
| rs2489484169 | 9:78,506,283 | A/T | — | uncertain significance |
| rs35344761 | 9:78,510,823 | C/A | intron variant | — |
| rs11998749 | 9:78,511,814 | A/G | — | — |
| rs11144688 | 9:78,542,286 | G/A | intron variant | — |
| rs749996808 | 9:78,547,299 | G/A | — | uncertain significance |
| rs1430511857 | 9:78,547,310 | G/A | — | uncertain significance |
| rs2489730816 | 9:78,547,340 | A/G | — | uncertain significance |
| rs374676663 | 9:78,601,079 | A/G | — | uncertain significance |
| rs149830197 | 9:78,601,098 | T/C | — | likely benign |
| rs2489980998 | 9:78,601,114 | C/G | — | uncertain significance |
| rs755577612 | 9:78,638,667 | A/G | — | uncertain significance |
| rs1437608328 | 9:78,638,681 | C/G | — | uncertain significance |
| rs111544516 | 9:78,638,689 | C/T | — | benign |
| rs1279448190 | 9:78,638,730 | A/G | — | uncertain significance |
| rs34417623 | 9:78,638,797 | C/T | — | uncertain significance |
| rs774726717 | 9:78,641,912 | C/T | — | likely benign |
| rs7047865 | 9:78,665,776 | T/G | intron variant | — |
| rs140064789 | 9:78,670,892 | C/A | intron variant | — |
| rs138241262 | 9:78,682,955 | C/T | — | benign |
| rs1168241473 | 9:78,686,813 | T/C | — | uncertain significance |
| rs4745496 | 9:78,701,793 | A/G | intron variant | — |
| rs1236968681 | 9:78,710,995 | G/A | — | uncertain significance |
| rs41310061 | 9:78,722,196 | G/A | — | likely benign |
| rs7861246 | 9:78,722,214 | G/A | — | benign |
| rs10120333 | 9:78,740,353 | T/C | — | — |
| rs3739728 | 9:78,748,973 | C/T | intron variant | — |
| rs1262895317 | 9:78,749,078 | C/T | — | uncertain significance |
| rs11144766 | 9:78,765,001 | C/T | intron variant | — |
| rs1297919566 | 9:78,771,993 | G/A | — | uncertain significance |
| rs763309564 | 9:78,772,039 | G/A | — | likely benign |
| rs1822621346 | 9:78,772,052 | T/C | — | uncertain significance |
| rs141661940 | 9:78,773,619 | A/G | intron variant | — |
| rs138257548 | 9:78,773,925 | G/A | — | benign |
| rs1564069307 | 9:78,773,928 | C/G | — | uncertain significance |
| rs34579561 | 9:78,773,966 | C/T | — | uncertain significance |
| rs767188792 | 9:78,773,990 | G/A | — | uncertain significance |
| rs148331502 | 9:78,784,653 | C/T | — | likely benign |
| rs2490648206 | 9:78,789,941 | C/T | — | uncertain significance |
| rs139361606 | 9:78,789,975 | G/A | — | benign |
| rs780514184 | 9:78,789,995 | A/G | — | uncertain significance |
| rs1273129285 | 9:78,790,043 | C/T | — | uncertain significance |
| rs572814938 | 9:78,794,520 | G/A | — | uncertain significance |
| rs11144782 | 9:78,795,213 | C/G | intron variant | — |
| rs373649072 | 9:78,799,604 | G/A | — | uncertain significance |
| rs201930247 | 9:78,803,562 | C/A | — | uncertain significance |
| rs1267739135 | 9:78,803,570 | C/T | — | uncertain significance |
| rs758699272 | 9:78,803,571 | G/A | — | uncertain significance |
| rs549175660 | 9:78,804,054 | A/G | — | uncertain significance |
| rs2490712743 | 9:78,804,056 | G/A | — | uncertain significance |
| rs763429672 | 9:78,804,072 | G/A | — | uncertain significance |
| rs202203226 | 9:78,804,567 | C/T | — | uncertain significance |
| rs146451859 | 9:78,804,589 | G/T | — | uncertain significance |
| rs757935315 | 9:78,804,598 | A/C | — | likely benign |
| rs760248260 | 9:78,804,627 | T/C | — | uncertain significance |
| rs1461735253 | 9:78,804,641 | A/C | — | uncertain significance |
| rs10746997 | 9:78,841,401 | G/C | — | — |
| rs774461032 | 9:78,854,018 | T/C | — | uncertain significance |
| rs57028275 | 9:78,854,033 | T/A | — | benign |
| rs2261722 | 9:78,869,581 | G/A | intron variant | — |
| rs2842483 | 9:78,906,150 | A/T | — | — |
| rs1268312757 | 9:78,911,681 | T/C | — | likely benign |
| rs372724311 | 9:78,911,741 | G/A | — | benign |
| rs368204950 | 9:78,923,554 | C/T | — | benign |
| rs114508164 | 9:78,923,638 | C/T | — | benign |
| rs199818235 | 9:78,925,584 | T/C | — | uncertain significance |
| rs747861967 | 9:78,925,605 | C/T | — | uncertain significance |
| rs375458910 | 9:78,925,680 | C/T | — | likely benign |
| rs78703446 | 9:78,936,493 | A/G | — | benign |
| rs574993741 | 9:78,936,553 | A/T | — | uncertain significance |
| rs375843412 | 9:78,937,968 | A/C | — | likely benign |
| rs773450734 | 9:78,938,022 | G/A | — | uncertain significance |
| rs935078469 | 9:78,938,203 | A/C | — | uncertain significance |
| rs61744763 | 9:78,942,946 | C/T | — | likely benign |
| rs61747223 | 9:78,943,028 | G/A | — | benign |
| rs114234833 | 9:78,943,039 | C/T | — | benign |
| rs531220742 | 9:78,947,429 | T/C | — | uncertain significance |
| rs146437583 | 9:78,947,461 | G/C | — | likely benign |
| rs748448537 | 9:78,947,478 | C/T | — | uncertain significance |
| rs201074605 | 9:78,947,501 | G/A | — | likely benign |
| rs1038727704 | 9:78,947,518 | C/A | — | uncertain significance |
| rs143169640 | 9:78,953,153 | G/A | — | benign |
| rs746839814 | 9:78,968,978 | C/T | — | likely benign |
| rs141281372 | 9:78,973,444 | G/A | — | likely benign |
| rs905582676 | 9:78,973,489 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.