rs3811942
This variant is located in the PCSK1 gene.
▶ClinVar annotation
Monogenic Non-Syndromic Obesity; Obesity due to prohormone convertase I deficiency; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶A Functional SNP Catalog of Overlapping miRNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative DisordersFunctionalReuben Saba et al.(2014)· Human Mutation
This functional study identifies 119 SNPs in miRNA-binding sites within 3'UTRs of 53 genes implicated in prion disease and other neurodegenerative disorders. The paper uses bioinformatics to predict SNPs affecting miRNA binding and experimentally validates key interactions, particularly rs9291296 in GABRα4 which strengthens miR-26a-5p binding (ΔΔG = 2.3 kcal/mol). The study finds that GABA receptor subunits are notably enriched for miRNA-targeting SNPs.
About PCSK1
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]
View all PCSK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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