Aliases for PCSK1 Gene
External Ids for PCSK1 Gene
Previous HGNC Symbols for PCSK1 Gene
Previous GeneCards Identifiers for PCSK1 Gene
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]
GeneCards Summary for PCSK1 Gene
PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1) is a Protein Coding gene. Diseases associated with PCSK1 include Proprotein Convertase 1/3 Deficiency and Body Mass Index Quantitative Trait Locus 12. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Incretin synthesis, secretion, and inactivation. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is FURIN.
UniProtKB/Swiss-Prot Summary for PCSK1 Gene
Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP.