ATE1 (Arginyltransferase 1)
Key regulator of the N-end rule pathway of protein degradation
Gene Information Card
| Symbol | ATE1 |
|---|---|
| Full Name | Arginyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 11101 ncbi.nlm.nih.gov/gene/11101 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | O95260 |
| OMIM ID | 607103 |
| HGNC ID | 786 |
| Aliases | ARGTRANS, ARGTRANS1, HsT2956 |
Description
The ATE1 gene encodes arginyltransferase 1, an enzyme that catalyzes the post-translational conjugation of arginine to the N-termini of proteins. This arginylation is a key step in the N-end rule pathway, targeting proteins for ubiquitin-dependent proteasomal degradation. ATE1 activity is essential for embryonic development, cardiovascular function, and regulation of protein stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular abnormalities | Loss of ATE1-mediated arginylation disrupts N-end rule degradation of cardiac regulatory proteins | PMID: 15988026 |
| Embryonic lethality (mouse model) | Ate1 knockout mice die in utero due to defects in heart and vascular development | PMID: 15988026 |
| Cancer (potential) | Altered arginylation may affect turnover of tumor suppressors or oncoproteins | PMID: 23376485 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 8.2 | Medium |
| Brain | 5.1 | Low |
| Liver | 6.7 | Low |
| Kidney | 7.9 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.5 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 6.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Premature truncation, loss of catalytic activity |
| c.1523G>A (p.Arg508Gln) | Missense | Rare | Reduced arginylation activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish arginyltransferase activity lead to impaired N-end rule degradation.
Gain of Function (GOF)
No documented gain-of-function mutations in ATE1.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• N-end rule pathway (R-HSA-983168)
• Ubiquitin-mediated proteolysis (KEGG hsa04120)
Protein Summary
Arginyltransferase 1 (ATE1) is a 603-amino acid cytoplasmic and nuclear enzyme that transfers arginine from tRNA to protein N-termini bearing acidic or hydrophobic residues. This modification is a recognition signal for the N-end rule ubiquitin ligases, targeting substrates for proteasomal degradation. ATE1 is critical for cardiovascular development and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATE1 Knockout HEK293 Cell Line | EDJ-KQ7289 | Human | 11101 | Details Get a Quote |
| ATE1 Knockout HCT 116 Cell Line | EDJ-KQ30952 | Human | 11101 | Details Get a Quote |
| ATE1 Knockout A-549 Cell Line | EDJ-KQ32328 | Human | 11101 | Details Get a Quote |
| ATE1 Knockout HeLa Cell Line | EDJ-KQ32330 | Human | 11101 | Details Get a Quote |
