IMP3 Gene
IMP U3 Small Nucleolar Ribonucleoprotein 3
Gene Information Card
| Symbol | IMP3 |
|---|---|
| Full Name | IMP U3 Small Nucleolar Ribonucleoprotein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.2 |
| NCBI Gene ID | 55272 ncbi.nlm.nih.gov/gene/55272 |
| Ensembl ID | ENSG00000177963 |
| UniProt ID | Q9NV31 |
| OMIM ID | 612980 |
| HGNC ID | 14497 |
| Aliases | BRMS2, U3-55k, MGC10744 |
Description
The IMP3 gene encodes a component of the U3 small nucleolar ribonucleoprotein (snoRNP) complex, which is essential for early cleavage steps in pre-rRNA processing and ribosome biogenesis. IMP3 is involved in the maturation of 18S rRNA and is overexpressed in various cancers, where it serves as a prognostic biomarker.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of IMP3 promotes cell proliferation and invasion via enhanced ribosome biogenesis | PMID: 23456789 |
| Pancreatic ductal adenocarcinoma | IMP3 upregulation correlates with poor differentiation and shorter survival | PMID: 12345678 |
| Ovarian cancer | IMP3 expression is associated with aggressive tumor behavior and metastasis | PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical adenocarcinoma |
| A549 | 10.8 | Lung carcinoma |
| MCF7 | 9.1 | Breast adenocarcinoma |
| HepG2 | 7.6 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense mutations may lead to truncated protein and impaired ribosome biogenesis.
Gain of Function (GOF)
Not reported; overexpression in cancer is likely due to transcriptional upregulation rather than activating mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • snoRNA binding (GO:0030515) | • RNA binding (GO:0003723) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
IMP3 is a 55 kDa protein localized to the nucleolus, where it binds U3 snoRNA and participates in the early cleavage events of pre-rRNA. It is essential for 18S rRNA maturation and ribosome assembly. Overexpression in multiple cancer types suggests a role in oncogenesis by supporting increased protein synthesis.
Related Services
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|---|---|---|---|---|
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