PSMF1: Proteasome Inhibitor Subunit 1
A key regulator of proteasome activity and cellular protein degradation
Gene Information Card
| Symbol | PSMF1 |
|---|---|
| Full Name | Proteasome Inhibitor Subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 9491 ncbi.nlm.nih.gov/gene/9491 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | Q92530 |
| OMIM ID | 609841 |
| HGNC ID | 9578 |
| Aliases | PI31, hPI31, MGC8721 |
Description
PSMF1 (Proteasome Inhibitor Subunit 1) encodes a protein known as PI31, which functions as an endogenous inhibitor of the 20S proteasome. PI31 binds to the proteasome and modulates its proteolytic activity, playing a role in regulating protein degradation and cellular homeostasis. The gene is widely expressed and has been implicated in various cellular processes including cell cycle control and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered expression of PSMF1 may affect proteasome activity and tumor progression | COSMIC database reports mutations in prostate cancer samples |
| Colorectal cancer | Mutations in PSMF1 observed in colorectal cancer, potential impact on protein degradation | COSMIC database |
| Lung cancer | Somatic mutations in PSMF1 identified in lung adenocarcinoma | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.6 | High |
| Brain | 18.2 | Medium |
| Lung | 12.4 | Medium |
| Liver | 8.7 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells |
| HeLa | 12.8 | Cervical cancer cells |
| A549 | 10.5 | Lung carcinoma cells |
| MCF7 | 9.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G | missense | 0.02% | p.Gln96Arg, unknown significance |
| c.412C>T | missense | 0.01% | p.Arg138Trp, unknown significance |
| c.523G>A | missense | 0.005% | p.Gly175Ser, unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • proteasome complex (GO:0000502) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • endopeptidase inhibitor activity (GO:0004866) |
Pathways
• Proteasome degradation pathway (Reactome: R-HSA-983168)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
The PSMF1 protein (PI31) is a 271-amino acid polypeptide that localizes to both the nucleus and cytoplasm. It contains a conserved N-terminal domain that interacts with the 20S proteasome core, inhibiting its chymotrypsin-like, trypsin-like, and caspase-like activities. PI31 also interacts with other proteasome regulators, such as PA28 and PA700, and may play a role in modulating proteasome assembly and function. The protein is expressed in multiple tissues and is involved in cellular stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSMF1 Knockout HEK293 Cell Line | EDJ-KQ5943 | Human | 9491 | Details Get a Quote |
| PSMF1 Knockout A-549 Cell Line | EDJ-KQ30841 | Human | 9491 | Details Get a Quote |
| PSMF1 Knockout HCT 116 Cell Line | EDJ-KQ30842 | Human | 9491 | Details Get a Quote |
| PSMF1 Knockout HeLa Cell Line | EDJ-KQ30843 | Human | 9491 | Details Get a Quote |
