PSMD1 Gene Summary [Human]
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 the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]
Details
| Type | Protein Coding |
| Official Symbol | PSMD1 |
| Official Name | proteasome 26S subunit, non-ATPase 1 [Source:HGNC Symbol;Acc:HGNC:9554] |
| Ensembl ID | ENSG00000173692 |
| Bio databases IDs | |
| Aliases | proteasome 26S subunit, non-ATPase 1 |
| Synonyms | 2410026J11Rik, P112, proteasome 26S subunit, non-ATPase 1, Proteasome 26s subunit, non-atpase, 1, proteasome (prosome, macropain) 26S subunit, non-ATPase, 1, Rpn2, S1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PSMD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- HEAT-like repeat
- protein binding
- Proteasome/cyclosome repeat
- HEAT repeats
- 26S proteasome regulatory subunit RPN2 C-terminal domain
Pathways
Biological processes and signaling networks where the PSMD1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- plasma cell myeloma
- proteinuria
- peripheral T-cell lymphoma
- mixed phenotype acute leukemia
- progressive multiple myeloma
- T-cell lymphoblastic lymphoma
- Waldenström macroglobulinemia
- symptomatic multiple myeloma
- systemic light chain amyloidosis
- T acute lymphoblastic leukemia
role in cell
- expression in
- apoptosis
- survival
- degradation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- azurophil granule lumen
- Extracellular Space
- cytosol
- nucleoplasm
- clastosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PSMD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteasomal ubiquitin-dependent protein catabolic process
- regulation of protein catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- proteasome regulatory particle, base subcomplex
- membrane
- proteasome regulatory particle
- cytosol
- proteasome complex
- proteasome accessory complex
- extracellular region
- proteasome storage granule
- azurophil granule lumen
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein binding
- enzyme regulator activity