Gene: CPN1

Alternate names for this Gene: CPN|SCPN

Gene Summary: Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.2

Description of this Gene: carboxypeptidase N subunit 1

Type of Gene: protein-coding

rs11599750 in CPN1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs11599750 in CPN1 gene and Body Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs7084921 in CPN1 gene and Bone Mineral Density Test PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

rs61751507 in CPN1 gene and Carboxypeptidase N Deficiency PMID 12560874 2003 Among 128 normal Caucasians, the 385fsInsG mutation was absent and the G178D mutation had a frequency of 0.0078, suggesting that these were rare molecular events that likely contributed to the carboxypeptidase N deficiency phenotype.

rs61751507 in CPN1 gene and Creatine kinase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs3750716 in CPN1 gene and Dermatomyositis PMID 27153935 2016 Variation at HLA-DPB1 is associated with dermatomyositis in Chinese population.

rs61871700 in CPN1 gene and Finding of creatine kinase level PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs11599750 in CPN1 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs11596211 in CPN1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs61871700 in CPN1 gene and Protein measurement PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.