PCSK9
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 autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:607786 Ensembl IDEnsembl:ENSG00000169174 HGNC IDHGNC:HGNC:20001 PHARMGKB IDPA38617 Map Location1p32.3 | |||||
GO terms in PCSK9
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IDA | GO:0004252 | serine-type endopeptidase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0019871 | sodium channel inhibitor activity |
| MF | ISS | GO:0030169 | low-density lipoprotein particle binding |
| MF | IDA | GO:0030547 | receptor inhibitor activity |
Gene expression in normal tissue: PCSK9
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PCSK9
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2846 | Proprotein convertase subtilisin-kexin type 9 (PCSK9) mediated LDL receptor degradation |
| wikipathways | WP3408 | Evolocumab Mechanism |
| kegg | hsa04979 | Cholesterol metabolism - Homo sapiens (human) |
| reactome | R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
| reactome | R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| reactome | R-HSA-382551 | Transport of small molecules |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD536 | PLX-4720 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PCSK9
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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