NOP53 (Nucleolar Protein 53)
A key regulator of ribosome biogenesis and tumor suppression
Gene Information Card
| Symbol | NOP53 |
|---|---|
| Full Name | Nucleolar Protein 53 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 29980 ncbi.nlm.nih.gov/gene/29980 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9NZM5 |
| OMIM ID | 617812 |
| HGNC ID | 25898 |
| Aliases | GLTSCR2, PICT-1, C19orf55 |
Description
NOP53 (nucleolar protein 53) is a protein-coding gene located on chromosome 19q13.33. It encodes a nucleolar protein involved in ribosome biogenesis, particularly in the processing of pre-rRNA and the assembly of the 60S ribosomal subunit. NOP53 also functions as a tumor suppressor by regulating PTEN stability and p53 activity. It is frequently deleted or mutated in gliomas and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioma | Loss of NOP53 expression leads to PTEN destabilization and increased AKT signaling, promoting tumorigenesis. | PMID: 19029980 |
| Glioblastoma multiforme | NOP53 deletion or reduced expression correlates with poor prognosis and aggressive tumor behavior. | PMID: 19029980 |
| Prostate cancer | NOP53 downregulation is associated with PTEN loss and activation of PI3K/AKT pathway. | PMID: 21502514 |
| Colorectal cancer | NOP53 mutations and reduced expression contribute to genomic instability and tumor progression. | PMID: 23431171 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate expression |
| U87MG (glioblastoma) | 3.5 | Low expression |
| MCF7 | 7.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.256C>T (p.Arg86Trp) | Missense | <0.1% | Unknown functional impact |
| c.523_524del (p.Gln175Valfs*3) | Frameshift | <0.1% | Loss of function |
| c.700G>A (p.Glu234Lys) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or loss of expression.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • RNA binding (GO:0003723) |
| • intracellular ribonucleoprotein complex (GO:0030529) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• PTEN regulation (Reactome: R-HSA-6807070)
Protein Summary
NOP53 is a 53 kDa nucleolar protein that localizes to the granular component of the nucleolus. It contains a RNA-binding domain and interacts with ribosomal proteins and pre-rRNA. NOP53 facilitates the maturation of the 60S ribosomal subunit and also shuttles to the nucleoplasm to regulate PTEN stability by preventing its ubiquitination. Loss of NOP53 leads to PTEN degradation, activating the PI3K/AKT pathway and promoting cancer cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOP53 Knockout HEK293 Cell Line | EDJ-KQ9126 | Human | 29997 | Details Get a Quote |
| NOP53 Knockout A-549 Cell Line | EDJ-KQ35655 | Human | 29997 | Details Get a Quote |
| NOP53 Knockout HCT 116 Cell Line | EDJ-KQ35656 | Human | 29997 | Details Get a Quote |
| NOP53 Knockout HeLa Cell Line | EDJ-KQ35657 | Human | 29997 | Details Get a Quote |
