Gene: LOC101929710

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: PCSK1

Alternate names for this Gene: BMIQ12|NEC1|PC1|PC3|SPC3

Gene 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

Gene is located in Chromosome: 5

Location in Chromosome : 5q15

Description of this Gene: proprotein convertase subtilisin/kexin type 1

Type of Gene: protein-coding

rs566921725 in LOC101929710;PCSK1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs6235 in LOC101929710;PCSK1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs6235 in LOC101929710;PCSK1 gene and Fasting blood glucose measurement PMID 23903356 2013 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.

rs6235 in LOC101929710;PCSK1 gene and Insulin measurement PMID 21873549 2011 Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.

PMID 23263489 2013 Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.

rs6235 in LOC101929710;PCSK1 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs137852821 in LOC101929710;PCSK1 gene and Proprotein Convertase 1 3 Deficiency PMID 9207799 1997 Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.

PMID 17595246 2007 Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

PMID 14617756 2003 Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.