Gene: PSMC3

Alternate names for this Gene: TBP1

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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

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

Type of Gene: protein-coding

rs12292911 in PSMC3 gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

rs10838708 in PSMC3 gene and Body Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs10838708 in PSMC3 gene and Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs2293579 in PSMC3 gene and Serum albumin level PMID 23022100 2012 Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

rs2293579 in PSMC3 gene and Serum albumin measurement PMID 23022100 2012 Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

rs141325867 in PSMC3 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.