PCSK1
proprotein convertase subtilisin/kexin type 1
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 and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014]
Known Variants280 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs271939 | 5:95,725,613 | C/A | — | — |
| rs1442234605 | 5:95,726,069 | G/A | — | uncertain significance |
| rs1050484297 | 5:95,726,071 | C/T | — | uncertain significance |
| rs746472388 | 5:95,726,094 | T/C | — | uncertain significance |
| rs1470735979 | 5:95,726,123 | T/C | — | uncertain significance |
| rs886060874 | 5:95,726,417 | T/C | — | uncertain significance |
| rs191960713 | 5:95,726,518 | C/T | — | uncertain significance |
| rs886060875 | 5:95,726,539 | G/A | — | uncertain significance |
| rs147244631 | 5:95,726,590 | C/T | — | uncertain significance |
| rs558370034 | 5:95,726,686 | T/C | — | uncertain significance |
| rs41276267 | 5:95,726,738 | G/A | — | uncertain significance |
| rs886060876 | 5:95,726,793 | C/T | — | uncertain significance |
| rs886060877 | 5:95,726,851 | A/T | — | uncertain significance |
| rs10515236 | 5:95,726,863 | C/T | — | uncertain significance |
| rs189919167 | 5:95,726,972 | C/T | — | uncertain significance |
| rs886060878 | 5:95,727,134 | T/C | — | uncertain significance |
| rs2882298 | 5:95,727,175 | G/A | — | likely benign |
| rs182581645 | 5:95,727,262 | G/A | — | uncertain significance |
| rs886060879 | 5:95,727,291 | T/G | — | uncertain significance |
| rs886060880 | 5:95,727,304 | G/A | — | uncertain significance |
| rs764110111 | 5:95,727,333 | G/C | — | uncertain significance |
| rs6556922 | 5:95,727,372 | T/A | — | uncertain significance |
| rs554558654 | 5:95,727,398 | T/C | — | uncertain significance |
| rs373852338 | 5:95,727,473 | C/T | — | uncertain significance |
| rs886060881 | 5:95,727,474 | G/A | — | uncertain significance |
| rs886060882 | 5:95,727,541 | A/G | — | uncertain significance |
| rs139172738 | 5:95,727,573 | A/G | — | uncertain significance |
| rs867846512 | 5:95,727,608 | G/T | — | uncertain significance |
| rs17085675 | 5:95,727,664 | A/T | — | likely benign |
| rs1039266884 | 5:95,727,731 | T/C | — | uncertain significance |
| rs886060883 | 5:95,727,800 | A/G | — | uncertain significance |
| rs772439505 | 5:95,727,868 | C/T | — | uncertain significance |
| rs115434587 | 5:95,728,108 | A/G | — | uncertain significance |
| rs886060884 | 5:95,728,234 | G/C | — | uncertain significance |
| rs750185441 | 5:95,728,267 | G/T | — | uncertain significance |
| rs373041583 | 5:95,728,418 | T/C | — | uncertain significance |
| rs3811942 | 5:95,728,440 | A/G | — | likely benign |
| rs1759988394 | 5:95,728,460 | C/A | — | uncertain significance |
| rs950364201 | 5:95,728,535 | T/A | — | uncertain significance |
| rs915412736 | 5:95,728,585 | G/A | — | uncertain significance |
| rs886060886 | 5:95,728,617 | C/G | — | uncertain significance |
| rs147016634 | 5:95,728,710 | T/G | — | uncertain significance |
| rs886060887 | 5:95,728,714 | C/T | — | uncertain significance |
| rs1760001769 | 5:95,728,720 | C/T | — | uncertain significance |
| rs529135368 | 5:95,728,731 | C/T | — | uncertain significance |
| rs150203772 | 5:95,728,753 | G/A | — | likely benign |
| rs770045247 | 5:95,728,788 | C/T | — | uncertain significance |
| rs773445927 | 5:95,728,805 | T/C | — | uncertain significance |
| rs1580741339 | 5:95,728,822 | G/A | — | likely benign |
| rs886060888 | 5:95,728,830 | G/A | — | uncertain significance |
| rs199684712 | 5:95,728,838 | G/C | — | uncertain significance |
| rs570064523 | 5:95,728,891 | C/T | — | likely benign |
| rs6235 | 5:95,728,898 | C/G | missense variant | likely benign |
| rs201179293 | 5:95,728,933 | G/A | — | likely benign |
| rs6234 | 5:95,728,974 | G/C | missense variant | likely benign |
| rs544018373 | 5:95,728,985 | C/A | — | uncertain significance |
| rs2531430663 | 5:95,728,993 | C/T | — | likely benign |
| rs2531430822 | 5:95,729,011 | C/A | — | likely benign |
| rs772483031 | 5:95,729,016 | C/T | — | likely benign |
| rs539013443 | 5:95,729,017 | G/A | — | likely benign |
| rs747454405 | 5:95,729,032 | G/T | — | uncertain significance |
| rs1760019115 | 5:95,729,041 | C/T | — | likely benign |
| rs6236 | 5:95,729,044 | C/T | — | conflicting classifications of pathogenicity |
| rs139453594 | 5:95,729,049 | T/C | — | conflicting classifications of pathogenicity |
| rs13169290 | 5:95,729,406 | A/G | — | benign |
| rs11741888 | 5:95,730,461 | T/C | — | benign |
| rs369199804 | 5:95,730,555 | G/C | — | conflicting classifications of pathogenicity |
| rs1389335567 | 5:95,730,557 | G/A | — | uncertain significance |
| rs753294559 | 5:95,730,628 | C/T | — | likely benign |
| rs1456842466 | 5:95,730,645 | G/A | — | uncertain significance |
| rs2112389745 | 5:95,730,669 | A/C | — | uncertain significance |
| rs1760081033 | 5:95,730,672 | T/C | — | uncertain significance |
| rs147790920 | 5:95,730,676 | G/A | — | likely benign |
| rs1554057298 | 5:95,730,678 | G/T | — | uncertain significance |
| rs538803955 | 5:95,730,688 | C/T | — | uncertain significance |
| rs139669972 | 5:95,730,706 | T/C | — | likely benign |
| rs2531438430 | 5:95,730,707 | C/T | — | uncertain significance |
| rs377749194 | 5:95,730,738 | T/C | — | likely benign |
| rs373105095 | 5:95,730,741 | G/A | — | likely benign |
| rs78697755 | 5:95,730,882 | A/G | — | benign |
| rs11135457 | 5:95,732,768 | A/T | — | benign |
| rs271920 | 5:95,732,986 | T/C | — | benign |
| rs527967413 | 5:95,733,033 | C/T | — | likely benign |
| rs778459381 | 5:95,733,050 | A/T | — | uncertain significance |
| rs1580744780 | 5:95,733,070 | T/C | — | uncertain significance |
| rs746859308 | 5:95,733,071 | A/G | — | uncertain significance |
| rs1580744791 | 5:95,733,074 | G/C | — | likely pathogenic |
| rs1051424287 | 5:95,733,076 | G/A | — | likely benign |
| rs564887144 | 5:95,733,089 | G/T | — | uncertain significance |
| rs746741588 | 5:95,733,096 | C/T | — | uncertain significance |
| rs6233 | 5:95,733,112 | A/G | — | likely benign |
| rs1327701164 | 5:95,733,137 | T/C | — | uncertain significance |
| rs761831648 | 5:95,733,141 | G/A | — | uncertain significance |
| rs1760196334 | 5:95,733,165 | T/C | — | uncertain significance |
| rs761070031 | 5:95,733,182 | C/T | — | likely benign |
| rs760087947 | 5:95,733,188 | C/G | — | likely benign |
| rs748197920 | 5:95,734,575 | T/A | — | likely benign |
| rs149124467 | 5:95,734,621 | C/T | — | uncertain significance |
| rs1168396288 | 5:95,734,622 | G/A | — | likely pathogenic |
| rs1369056991 | 5:95,734,634 | T/C | — | uncertain significance |
Showing 100 of 280 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.