LongevityMap variant group

Entry Details

Longevity Association: Significant
Population: Korean
Study Design: 463 biomarkers in 176 diesase associated genes were examined in 137 long lived individuals (>90 y, 59.1% female, 96.73 ± 3.97 y) and 213 young controls (12-14 y, 39.4% female, 12.93 ± 0.80)
Conclusions: PCSK1 was associated with longevity (P = 0.008) after correcting for multiple hypothesis testing

HGNC symbol: PCSK1
Aliases: PC1; PC3; NEC1; SPC3; BMIQ12
Common name: proprotein convertase subtilisin/kexin type 1
Description: 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]
Other longevity studies of this gene: 2
OMIM: 162150
Ensembl: ENSG00000175426
UniProt/Swiss-Prot: NEC1_HUMAN
Entrez Gene: 5122
UniGene: 78977
HapMap: View on HapMap

GenAge model organism genes

Park et al. (2009)