PSMD3
proteasome 26S subunit, non-ATPase 3
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. [provided by RefSeq, Jul 2012]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2545350008 | 17:38,137,240 | C/T | — | uncertain significance |
| rs1007310917 | 17:38,137,253 | C/T | — | likely benign |
| rs1026627350 | 17:38,137,306 | C/T | — | likely benign |
| rs3087852 | 17:38,137,364 | G/A | synonymous variant | — |
| rs576566496 | 17:38,140,269 | G/C | — | — |
| rs2545352335 | 17:38,140,551 | C/G | — | uncertain significance |
| rs201112076 | 17:38,140,605 | C/G | — | uncertain significance |
| rs763435974 | 17:38,140,645 | C/T | — | uncertain significance |
| rs143231745 | 17:38,140,646 | G/A | — | uncertain significance |
| rs777827638 | 17:38,142,880 | C/T | — | uncertain significance |
| rs201862777 | 17:38,142,883 | C/T | — | uncertain significance |
| rs377229346 | 17:38,142,891 | C/T | — | uncertain significance |
| rs142347522 | 17:38,142,955 | G/T | — | uncertain significance |
| rs4065321 | 17:38,143,548 | C/T | intron variant | — |
| rs12453764 | 17:38,144,187 | T/C | intron variant | — |
| rs12450688 | 17:38,144,229 | G/A | intron variant | — |
| rs1980583096 | 17:38,144,949 | C/G | — | uncertain significance |
| rs1980585430 | 17:38,145,021 | A/C | — | uncertain significance |
| rs998129385 | 17:38,145,029 | G/A | — | uncertain significance |
| rs9913561 | 17:38,145,067 | G/C | — | benign |
| rs9915252 | 17:38,145,088 | C/G | intron variant | — |
| rs57968500 | 17:38,145,828 | A/G | intron variant | — |
| rs148147676 | 17:38,146,021 | C/T | — | uncertain significance |
| rs370998801 | 17:38,146,084 | A/G | — | uncertain significance |
| rs746850055 | 17:38,146,095 | T/C | — | uncertain significance |
| rs9916279 | 17:38,146,154 | T/C | synonymous variant | — |
| rs8066582 | 17:38,146,929 | T/C | intron variant | — |
| rs11658328 | 17:38,149,236 | T/G | — | — |
| rs3785549 | 17:38,149,724 | T/C | intron variant | — |
| rs4795412 | 17:38,150,604 | C/T | intron variant | — |
| rs3859187 | 17:38,150,613 | C/A | intron variant | — |
| rs2544026017 | 17:38,151,503 | A/G | — | uncertain significance |
| rs8070444 | 17:38,151,960 | A/G | intron variant | — |
| rs8071037 | 17:38,152,304 | A/C | — | — |
| rs1238716719 | 17:38,152,464 | G/C | — | uncertain significance |
| rs763249659 | 17:38,152,493 | T/A | — | uncertain significance |
| rs2241244 | 17:38,153,554 | G/C | intron variant | — |
| rs8081692 | 17:38,154,595 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.