RLIG1 (RING Finger Protein 1, E3 Ubiquitin Protein Ligase)
Key regulator of ubiquitin-mediated protein degradation and DNA repair
Gene Information Card
| Symbol | RLIG1 |
|---|---|
| Full Name | RING finger protein 1, E3 ubiquitin protein ligase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | P04637 |
| OMIM ID | 191170 |
| HGNC ID | 11998 |
| Aliases | TP53, p53, TRP53 |
Description
RLIG1 encodes the tumor suppressor protein p53, a transcription factor that regulates cell cycle arrest, apoptosis, senescence, DNA repair, and metabolism. It acts as a key mediator of cellular stress responses and is frequently mutated in human cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Li-Fraumeni syndrome | Germline mutations in RLIG1 lead to loss of p53 function, impairing DNA damage response and tumor suppression. | ClinVar, OMIM |
| Breast cancer | Somatic mutations in RLIG1 disrupt p53-mediated apoptosis and cell cycle control, promoting tumorigenesis. | COSMIC, NCBI |
| Colorectal cancer | Loss of p53 function allows genomic instability and evasion of apoptosis in colorectal epithelium. | COSMIC, ClinVar |
| Lung cancer | RLIG1 mutations are common in non-small cell lung cancer, contributing to chemoresistance and poor prognosis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Brain | 15.2 | Medium |
| Breast | 10.1 | Medium |
| Colon | 9.8 | Low |
| Heart | 7.4 | Low |
| Kidney | 11.6 | Medium |
| Liver | 13.0 | Medium |
| Lung | 14.7 | Medium |
| Lymph node | 6.2 | Low |
| Ovary | 16.3 | Medium |
| Pancreas | 9.1 | Low |
| Prostate | 12.8 | Medium |
| Skin | 18.4 | High |
| Small intestine | 10.5 | Medium |
| Spleen | 8.9 | Low |
| Stomach | 11.2 | Medium |
| Testis | 20.1 | High |
| Thymus | 7.8 | Low |
| Thyroid | 14.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 22.5 | High expression; wild-type p53 |
| MCF7 (breast carcinoma) | 18.3 | High expression; wild-type p53 |
| HCT116 (colorectal carcinoma) | 15.7 | Medium expression; wild-type p53 |
| HeLa (cervical carcinoma) | 5.2 | Low expression; HPV E6-mediated degradation |
| U2OS (osteosarcoma) | 19.1 | High expression; wild-type p53 |
| HepG2 (hepatocellular carcinoma) | 12.4 | Medium expression; wild-type p53 |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.817C>T (p.Arg273Cys) | Missense | Common in multiple cancers | Loss of DNA-binding activity; dominant-negative effect |
| c.743G>A (p.Arg248Trp) | Missense | Frequent in colorectal cancer | Loss of transactivation function |
| c.844C>T (p.Arg282Trp) | Missense | Observed in lung cancer | Impaired transcriptional activation |
| c.1024G>T (p.Glu342*) | Nonsense | Rare | Truncation; loss of function |
| c.375+1G>A | Splice site | Reported in Li-Fraumeni syndrome | Aberrant splicing; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most RLIG1 mutations result in loss of tumor suppressor activity, including impaired DNA binding, transactivation, and induction of apoptosis.
Gain of Function (GOF)
Some missense mutations (e.g., p.Arg273Cys, p.Arg248Trp) can confer oncogenic properties, promoting cell proliferation, invasion, and chemoresistance.
Dominant Negative (DN)
Mutant p53 can oligomerize with wild-type p53, inhibiting its function and reducing tumor suppression.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • Protein binding |
| • Ubiquitin protein ligase binding | • Apoptotic process |
| • Cell cycle arrest | • DNA damage response |
| • Regulation of transcription by RNA polymerase II |
Pathways
• p53 signaling pathway (KEGG: hsa04115)
• Apoptosis (KEGG: hsa04210)
• Cell cycle (KEGG: hsa04110)
• miRNAs in cancer (KEGG: hsa05206)
Protein Summary
The RLIG1 protein (p53) is a 393-amino acid transcription factor with an N-terminal transactivation domain, a central DNA-binding domain, and a C-terminal oligomerization domain. It functions as a tetramer and regulates hundreds of target genes involved in cell cycle control, apoptosis, and DNA repair. p53 is stabilized and activated in response to cellular stresses such as DNA damage, oncogene activation, and hypoxia. Mutations in the DNA-binding domain are the most common and often lead to loss of function or gain of oncogenic properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RLIG1 Knockout HEK293 Cell Line | EDJ-KQ15083 | Human | 91298 | Details Get a Quote |
| RLIG1 Knockout A-549 Cell Line | EDJ-KQ45651 | Human | 91298 | Details Get a Quote |
| RLIG1 Knockout HCT 116 Cell Line | EDJ-KQ45652 | Human | 91298 | Details Get a Quote |
| RLIG1 Knockout HeLa Cell Line | EDJ-KQ45653 | Human | 91298 | Details Get a Quote |
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