Gene: PSMD3

Alternate names for this Gene: P58|RPN3|S3|TSTA2

Gene Summary: The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.1

Description of this Gene: proteasome 26S subunit, non-ATPase 3

Type of Gene: protein-coding

rs11652139 in PSMD3 gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs12453334 in PSMD3 gene and Asthma PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs12450688 in PSMD3 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12450688 in PSMD3 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs8081692 in PSMD3 gene and Neutrophil count (procedure) PMID 29066854 2017 2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio.

rs11078929 in PSMD3 gene and Primary biliary cirrhosis PMID 22936693 2012 Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

rs12450688 in PSMD3 gene and White Blood Cell Count procedure PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 22037903 2012 Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.