POMP Gene - Proteasome Maturation Protein
Essential chaperone for 20S proteasome assembly and associated with proteasome-associated autoinflammatory syndromes
Gene Information Card
| Symbol | POMP |
|---|---|
| Full Name | Proteasome Maturation Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 51371 ncbi.nlm.nih.gov/gene/51371 |
| Ensembl ID | ENSG00000132964 |
| UniProt ID | Q9Y244 |
| OMIM ID | 613386 |
| HGNC ID | 20330 |
| Aliases | UMP1, PROMM, C13orf12 |
Description
The POMP gene encodes the proteasome maturation protein, a chaperone essential for the assembly of the 20S proteasome core particle. It facilitates the correct folding and incorporation of alpha and beta subunits into the proteasome complex. Mutations in POMP are associated with proteasome-associated autoinflammatory syndromes (PRAAS) and other immune dysregulation disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Proteasome-associated autoinflammatory syndrome 2 (PRAAS2) | Loss-of-function mutations impair proteasome assembly, leading to accumulation of ubiquitinated proteins and chronic inflammation | OMIM #618183 |
| POMP-related autoinflammatory disease | Dominant-negative mutations disrupt proteasome biogenesis, causing interferonopathy and skin involvement | ClinVar, PMID: 25683120 |
| Keratinoderma with woolly hair | Missense mutations in POMP affect proteasome function, leading to skin abnormalities | OMIM #617238 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Spleen | 10.9 | Medium |
| Skin | 8.2 | Medium |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 10.5 | Medium expression |
| HepG2 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98Trp) | Missense | Rare | Dominant-negative; disrupts proteasome assembly |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; reduced POMP protein |
| c.373C>T (p.Arg125*) | Nonsense | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations reduce POMP protein levels, impairing proteasome assembly and leading to autoinflammation.
Gain of Function (GOF)
Not described for POMP.
Dominant Negative (DN)
Missense mutations like p.Arg98Trp produce a defective protein that interferes with wild-type POMP function, causing dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • proteasome complex (GO:0000502) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • proteasome assembly (GO:0043248) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Proteasome degradation (KEGG hsa03050)
• Antigen processing and presentation (KEGG hsa04612)
Protein Summary
POMP is a 141-amino acid chaperone protein localized to the cytoplasm and nucleus. It binds to proteasome precursors and promotes the formation of the 20S core particle by facilitating beta subunit processing. POMP is highly expressed in immune tissues and is critical for maintaining proteostasis. Defects in POMP lead to proteasome dysfunction and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POMP Knockout HEK293 Cell Line | EDJ-KQ11073 | Human | 51371 | Details Get a Quote |
| POMP Knockout HCT 116 Cell Line | EDJ-KQ38997 | Human | 51371 | Details Get a Quote |
| POMP Knockout HeLa Cell Line | EDJ-KQ38998 | Human | 51371 | Details Get a Quote |
| POMP Knockout A-549 Cell Line | EDJ-KQ37692 | Human | 51371 | Details Get a Quote |
