PES1 (Pescadillo Ribosomal Biogenesis Factor 1)
A key nucleolar protein involved in ribosome biogenesis, cell proliferation, and cancer progression.
Gene Information Card
| Symbol | PES1 |
|---|---|
| Full Name | Pescadillo Ribosomal Biogenesis Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.1 |
| NCBI Gene ID | 23481 ncbi.nlm.nih.gov/gene/23481 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | O00541 |
| OMIM ID | 605819 |
| HGNC ID | 8848 |
| Aliases | PES, Pescadillo homolog 1, Pescadillo (zebrafish) homolog 1 |
Description
PES1 encodes a nucleolar protein essential for ribosome biogenesis, specifically in the processing of pre-rRNA and assembly of the 60S ribosomal subunit. It is highly conserved across eukaryotes and plays a critical role in cell proliferation, growth, and development. Overexpression of PES1 is associated with various cancers, including breast, colorectal, and hepatocellular carcinoma, where it promotes cell cycle progression and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | PES1 overexpression enhances ribosome biogenesis and cell cycle progression, promoting tumor growth. | PMID: 25609832; COSMIC |
| Colorectal Cancer | PES1 upregulation correlates with poor prognosis and increased proliferation via rRNA synthesis. | PMID: 29367642; COSMIC |
| Hepatocellular Carcinoma | PES1 drives hepatocarcinogenesis by stabilizing c-Myc and enhancing ribosomal RNA transcription. | PMID: 31085178; COSMIC |
| Ovarian Cancer | PES1 amplification and overexpression linked to aggressive tumor phenotypes. | COSMIC; PMID: 30348673 |
| Developmental Disorders | Homozygous loss-of-function mutations in PES1 cause a rare syndrome with microcephaly, intellectual disability, and growth retardation. | OMIM: 605819; PMID: 31130284 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Lymph node | 35.1 | High |
| Bone marrow | 30.5 | High |
| Breast | 18.7 | Medium |
| Colon | 15.3 | Medium |
| Liver | 12.8 | Medium |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 42.1 | High expression; consistent with proliferative role |
| MCF7 (breast cancer) | 38.5 | Overexpressed; linked to estrogen receptor signaling |
| HepG2 (liver cancer) | 35.2 | High; associated with c-Myc stabilization |
| HEK293 (embryonic kidney) | 22.0 | Moderate; used in functional studies |
| K562 (leukemia) | 18.9 | Moderate; proliferative cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Reported in developmental disorder; disrupts nucleolar localization |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown significance; found in cancer samples |
| Amplification | Copy number gain | 5-10% in breast cancer | Increased gene dosage; gain of function |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense or truncating mutations (e.g., p.Arg349Trp) impair ribosome biogenesis, leading to developmental defects.
Gain of Function (GOF)
Gene amplification and overexpression in cancers enhance rRNA synthesis and cell proliferation.
Dominant Negative (DN)
Not reported for PES1.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462) |
| • RNA binding (GO:0003723) | • protein binding (GO:0005515) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleolus (Reactome: R-HSA-6791226)
• c-Myc transcriptional regulation of ribosomal genes (Reactome: R-HSA-9634638)
Protein Summary
PES1 is a 588-amino-acid nucleolar protein (UniProt O00541) containing a BRCT domain and a Pescadillo N-terminal domain. It is essential for the processing of 32S pre-rRNA to mature 28S rRNA and for the assembly of the 60S large ribosomal subunit. The protein interacts with other ribosome biogenesis factors such as BOP1 and WDR12, forming the PeBoW complex. PES1 also binds to c-Myc, enhancing its transcriptional activity. Its expression is tightly regulated during the cell cycle, peaking in S phase.
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