PIERCE1 (P53-Induced Expression In RCC Cells 1)
A p53-responsive gene implicated in renal cell carcinoma and cellular stress responses.
Gene Information Card
| Symbol | PIERCE1 |
|---|---|
| Full Name | p53-induced expression in RCC cells 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 284274 ncbi.nlm.nih.gov/gene/284274 |
| Ensembl ID | ENSG00000180353 |
| UniProt ID | Q6P1X5 |
| OMIM ID | 616733 |
| HGNC ID | 33736 |
| Aliases | C9orf77, FLJ38973 |
Description
PIERCE1 (p53-induced expression in RCC cells 1) is a protein-coding gene located on chromosome 9q34.3. It was initially identified as a gene induced by p53 in renal cell carcinoma (RCC) cells. The gene encodes a protein of unknown function, but it is thought to play a role in cellular stress responses and apoptosis. PIERCE1 expression is regulated by p53 and may be involved in tumor suppression. Its expression is observed in various tissues, with notable levels in the kidney and testis. Mutations and altered expression of PIERCE1 have been reported in some cancers, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal Cell Carcinoma | PIERCE1 is induced by p53 and may mediate p53-dependent apoptosis in RCC cells. Altered expression could contribute to tumor progression. | PubMed: 20081839 |
| Clear Cell Renal Cell Carcinoma | Downregulation of PIERCE1 has been observed in ccRCC tissues, potentially affecting p53 pathway activity. | COSMIC: gene analysis |
| Lung Cancer | PIERCE1 expression is altered in some lung cancer cell lines, but the mechanism is not fully characterized. | COSMIC: gene analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Testis | 8.7 | Low |
| Lung | 5.2 | Low |
| Brain | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A498 (RCC) | 15.2 | High expression; p53-inducible |
| 786-O (RCC) | 10.4 | Moderate expression |
| HEK293 | 3.1 | Low expression |
| HeLa | 1.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.412C>T (p.Arg138*) | Nonsense | 0.1% (COSMIC) | Truncated protein; likely loss of function |
| c.755A>G (p.Gln252Arg) | Missense | 0.05% (COSMIC) | Unknown effect; possibly damaging |
| c.1024_1025insA (p.Thr342Asnfs*5) | Frameshift | 0.02% (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to result in truncated or absent protein, leading to loss of function. This may impair p53-mediated apoptosis in cancer cells.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PIERCE1.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • biological_process: apoptotic process | • biological_process: cellular response to DNA damage stimulus |
| • biological_process: regulation of cell population proliferation | • cellular_component: cytoplasm |
| • molecular_function: protein binding |
Pathways
• p53 signaling pathway (Reactome: R-HSA-3700989)
• Apoptosis (KEGG: hsa04210)
Protein Summary
The PIERCE1 protein is a 342-amino acid polypeptide with no characterized domains. It is localized to the cytoplasm and is induced by p53 in response to DNA damage. It may interact with other proteins to promote apoptosis. Structural predictions suggest it may contain coiled-coil regions, but experimental validation is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIERCE1 Knockout HEK293 Cell Line | EDJ-KQ14757 | Human | 138162 | Details Get a Quote |
| PIERCE1 Knockout A-549 Cell Line | EDJ-KQ45132 | Human | 138162 | Details Get a Quote |
| PIERCE1 Knockout HCT 116 Cell Line | EDJ-KQ45133 | Human | 138162 | Details Get a Quote |
| PIERCE1 Knockout HeLa Cell Line | EDJ-KQ45134 | Human | 138162 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
