PCSK1
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
proprotein convertase subtilisin/kexin type 1 | MIM:162150 | Ensembl:ENSG00000175426 | HGNC:HGNC:8743 | PA33089 | 5q15 |
GO terms in PCSK1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IDA | GO:0005615 | extracellular space |
CC | IEA | GO:0030133 | transport vesicle |
CC | TAS | GO:0034774 | secretory granule lumen |
BP | TAS | GO:0006508 | proteolysis |
BP | TAS | GO:0007267 | cell-cell signaling |
BP | TAS | GO:0016486 | peptide hormone processing |
BP | ISS | GO:0043043 | peptide biosynthetic process |
MF | ISS | GO:0004252 | serine-type endopeptidase activity |
MF | TAS | GO:0004252 | serine-type endopeptidase activity |
MF | IEA | GO:0042802 | identical protein binding |
Gene expression in normal tissue: PCSK1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PCSK1
Database | Pathway ID | Pathway Des. |
---|---|---|
wikipathways | WP3998 | Prader-Willi and Angelman Syndrome |
reactome | R-HSA-209952 | Peptide hormone biosynthesis |
reactome | R-HSA-264876 | Insulin processing |
reactome | R-HSA-2980736 | Peptide hormone metabolism |
reactome | R-HSA-2980736 | Peptide hormone metabolism |
reactome | R-HSA-381771 | Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) |
reactome | R-HSA-392499 | Metabolism of proteins |
reactome | R-HSA-392499 | Metabolism of proteins |
reactome | R-HSA-400508 | Incretin synthesis, secretion, and inactivation |
reactome | R-HSA-400511 | Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) |
reactome | R-HSA-422085 | Synthesis, secretion, and deacylation of Ghrelin |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PCSK1