POMP Gene Summary [Human]
The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
Details
| Type | Protein Coding |
| Official Symbol | POMP |
| Official Name | proteasome maturation protein [Source:HGNC Symbol;Acc:HGNC:20330] |
| Ensembl ID | ENSG00000132963 |
| Bio databases IDs | |
| Aliases | proteasome maturation protein, proteassemblin |
| Synonyms | 2510048O06Rik,C13orf12,HSPC014,LOC100911238,PNAS-110,PRAAS2,proteasome maturation protein,RGD1305831,UMP1 |
| Species | Human, Homo sapiens |
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 POMP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Proteasome maturation factor UMP1
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- proteasome-associated autoinflammatory syndrome 2
- keratosis linearis with ichthyosis congenita and sclerosing keratoderma
- neonatal late-onset sepsis
- idiopathic scoliosis
- septic shock
role in cell
- phosphorylation in
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POMP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteasome assembly
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nuclear speck
- membrane
- cytosol
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding