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

Variants (3)

1.
Identifier
rs3811952
Cytogenetic Location
5q15
UCSC Genome Browser
View 5q15 on the UCSC genome browser
2.
Identifier
rs155979
Cytogenetic Location
5q15
UCSC Genome Browser
View 5q15 on the UCSC genome browser
3.
Identifier
rs3762985
Cytogenetic Location
5q15
UCSC Genome Browser
View 5q15 on the UCSC genome browser

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]
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

Homologs in model organisms

Danio rerio
pcsk1
Drosophila melanogaster
Fur1
Mus musculus
Pcsk1
Rattus norvegicus
Pcsk1

References

Park et al. (2009)

Other variants which are also part of this study