UBR5 Gene: Ubiquitin Protein Ligase E3 Component N-Recognin 5
A key E3 ubiquitin ligase involved in protein quality control, cell cycle regulation, and tumor suppression.
Gene Information Card
| Symbol | UBR5 |
|---|---|
| Full Name | Ubiquitin Protein Ligase E3 Component N-Recognin 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 51366 ncbi.nlm.nih.gov/gene/51366 |
| Ensembl ID | ENSG00000104517 |
| UniProt ID | O95171 |
| OMIM ID | 608413 |
| HGNC ID | 16878 |
| Aliases | EDD, EDD1, HYD, DKFZp434N1923 |
Description
UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5) encodes a HECT domain-containing E3 ubiquitin ligase that recognizes N-degrons and targets proteins for proteasomal degradation. It plays critical roles in DNA damage response, cell cycle progression, and transcriptional regulation. UBR5 is frequently mutated in various cancers and is considered a putative tumor suppressor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of UBR5 expression leads to genomic instability and impaired DNA repair | COSMIC, ClinVar |
| Colorectal cancer | Somatic mutations and copy number alterations disrupt UBR5-mediated protein degradation | COSMIC, NCBI |
| Ovarian cancer | UBR5 overexpression correlates with poor prognosis; mutations affect cell cycle control | COSMIC, ClinVar |
| Prostate cancer | UBR5 downregulation promotes androgen receptor signaling and tumor progression | NCBI, COSMIC |
| Endometrial cancer | Recurrent UBR5 mutations identified in tumor sequencing studies | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 42.3 | High |
| Lymph node | 38.1 | High |
| Bone marrow | 35.7 | High |
| Brain | 12.4 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 45.2 | High expression in embryonic kidney cells |
| HeLa | 38.6 | Cervical cancer cell line |
| MCF7 | 29.4 | Breast cancer cell line |
| HCT116 | 33.1 | Colorectal carcinoma cell line |
| K562 | 41.0 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.5% in breast cancer | Loss of function; truncated protein |
| c.2567_2568del (p.Gln856fs) | Frameshift | 0.3% in colorectal cancer | Loss of function; premature stop |
| c.3456G>A (p.Arg1152His) | Missense | 0.2% in ovarian cancer | Unknown; likely damaging |
| c.4567A>G (p.Asn1523Asp) | Missense | 0.1% in endometrial cancer | Unknown; possibly gain of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Gln856fs) result in truncated or unstable UBR5 protein, impairing ubiquitin ligase activity and leading to genomic instability.
Gain of Function (GOF)
Rare missense mutations (e.g., p.Asn1523Asp) may enhance substrate binding or catalytic activity, potentially promoting oncogenic signaling.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, certain missense variants could interfere with wild-type UBR5 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• N-end rule pathway (Reactome: R-HSA-983168)
• DNA damage response (Reactome: R-HSA-5693565)
• Cell cycle checkpoints (Reactome: R-HSA-69620)
Protein Summary
UBR5 is a 2799-amino acid HECT domain E3 ubiquitin ligase that recognizes N-terminal degradation signals (N-degrons). It contains a UBR box, zinc finger domains, and a HECT domain. The protein shuttles between nucleus and cytoplasm, ubiquitinating substrates such as p53, BRCA1, and cyclin E. UBR5 is essential for embryonic development and its dysregulation contributes to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBR5 Knockout HEK293 Cell Line | EDJ-KQ3123 | Human | 51366 | Details Get a Quote |
| UBR5 Knockout A-549 Cell Line | EDJ-KQ24483 | Human | 51366 | Details Get a Quote |
| UBR5 Knockout HCT 116 Cell Line | EDJ-KQ24484 | Human | 51366 | Details Get a Quote |
| UBR5 Knockout HeLa Cell Line | EDJ-KQ24485 | Human | 51366 | Details Get a Quote |
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