PSMD3 proteasome 26S subunit, non-ATPase 3
Gene ID: 5709, updated on 6-Oct-2024Gene type: protein coding
Also known as: S3; P58; RPN3; TSTA2
- See all available tests in GTR for this gene
- Go to complete Gene record for PSMD3
- Go to Variation Viewer for PSMD3 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. GeneReviews: Not available | |
| Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. GeneReviews: Not available | |
| Multiple loci are associated with white blood cell phenotypes. GeneReviews: Not available |
Genomic context
- Location:
- 17q21.1
- Sequence:
- Chromosome: 17; NC_000017.11 (39980807..39997959)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PSMD3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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