LongevityMap Gene

Gene details

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]
Cytogenetic Location: 5q15
UCSC Genome Browser: View 5q15 on the UCSC genome browser
OMIM: 162150
Ensembl: ENSG00000175426
UniProt/Swiss-Prot: NEC1_HUMAN
Entrez Gene: 5122
UniGene: 78977
1000 Genomes: 1000 Genomes

Homologs in model organisms

Danio rerio: pcsk1
Mus musculus: Pcsk1
Rattus norvegicus: Pcsk1
Rattus norvegicus: AABR07024139.1
Saccharomyces cerevisiae: KEX2

In other databases

GenAge model organism genes

A homolog of this gene for Saccharomyces cerevisiae is present as KEX2

Studies (1)

Significant/Non-significant: 1/0

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

Indentifier

rs3811952

Reference