PSME3IP1 Gene - Structure, Function, and Clinical Relevance
A comprehensive biomedical overview of PSME3IP1 (Proteasome Activator Subunit 3 Interacting Protein 1), including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PSME3IP1 |
|---|---|
| Full Name | Proteasome Activator Subunit 3 Interacting Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 64601 ncbi.nlm.nih.gov/gene/64601 |
| Ensembl ID | ENSG00000141577 |
| UniProt ID | Q9H6Z9 |
| OMIM ID | 617669 |
| HGNC ID | HGNC:24916 |
| Aliases | C17orf72, FLJ20643, MSTP034 |
Description
PSME3IP1 encodes a protein that interacts with PSME3, a proteasome activator subunit. It is involved in proteasome-mediated protein degradation and may play roles in cell cycle regulation and DNA damage response. The gene is located on chromosome 17q21.31 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect proteasome activity, influencing tumor progression. | COSMIC database shows somatic mutations in multiple cancer types. |
| Neurodegenerative disorders | Potential impact on protein homeostasis via proteasome regulation. | Inferred from functional studies; not yet clinically validated. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.2 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 10.4 | Moderate expression |
| MCF7 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.412C>T (p.Arg138Ter) | Nonsense | 0.01% (gnomAD) | Loss of function, likely protein truncation. |
| c.755A>G (p.Glu252Gly) | Missense | 0.05% (gnomAD) | Potential impact on protein interaction. |
| c.1021_1022insA (p.Thr341AsnfsTer5) | Frameshift | 0.02% (COSMIC) | Loss of function in cancer samples. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing PSME3 interaction and proteasome regulation.
Gain of Function (GOF)
No evidence for gain-of-function mutations; missense variants may alter binding affinity but not clearly activating.
Dominant Negative (DN)
Not established; no dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • proteasome activator activity |
| • proteasome-mediated ubiquitin-dependent protein catabolic process | • cell cycle |
| • DNA damage response |
Pathways
• Proteasome degradation pathway
• Cell cycle regulation
• DNA repair pathways
Protein Summary
PSME3IP1 is a 341-amino acid protein that interacts with PSME3 (PA28γ), a nuclear proteasome activator. It may modulate proteasome activity in the nucleus, influencing cell cycle progression and response to DNA damage. The protein is localized to the nucleus and is expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSME3IP1 Knockout HEK293 Cell Line | EDJ-KQ9425 | Human | 80011 | Details Get a Quote |
| PSME3IP1 Knockout A-549 Cell Line | EDJ-KQ36081 | Human | 80011 | Details Get a Quote |
| PSME3IP1 Knockout HCT 116 Cell Line | EDJ-KQ36082 | Human | 80011 | Details Get a Quote |
| PSME3IP1 Knockout HeLa Cell Line | EDJ-KQ34836 | Human | 80011 | Details Get a Quote |
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