UBA7 (Ubiquitin Like Modifier Activating Enzyme 7)
Key regulator of ubiquitin-like conjugation and interferon signaling
Gene Information Card
| Symbol | UBA7 |
|---|---|
| Full Name | Ubiquitin Like Modifier Activating Enzyme 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 7314 ncbi.nlm.nih.gov/gene/7314 |
| Ensembl ID | ENSG00000182179 |
| UniProt ID | P41226 |
| OMIM ID | 191330 |
| HGNC ID | 12478 |
| Aliases | UBE1L, UBE2, UBA7 |
Description
UBA7 encodes a member of the E1 ubiquitin-activating enzyme family. This enzyme activates ubiquitin-like modifiers, particularly ISG15, in response to type I interferon signaling. It plays a critical role in protein conjugation pathways that regulate antiviral responses, cell proliferation, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary breast and ovarian cancer | Loss of UBA7 expression reduces ISG15 conjugation, impairing DNA damage repair and promoting genomic instability | ClinVar, COSMIC |
| Lung cancer | Frequent deletion at 3p21.31 leads to UBA7 loss, associated with poor prognosis and increased metastasis | COSMIC, NCBI |
| Viral infections (e.g., influenza, SARS-CoV-2) | UBA7-mediated ISGylation of viral proteins restricts replication; downregulation enhances viral pathogenesis | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Liver | 15.7 | Medium |
| Spleen | 22.1 | High |
| Peripheral blood mononuclear cells | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 14.2 | Interferon-inducible |
| MCF7 (breast cancer) | 6.8 | Reduced in tumor lines |
| HEK293 (embryonic kidney) | 20.5 | Basal expression |
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.1003C>T (p.Arg335Trp) | Missense | 0.02% | Impaired ISG15 activation |
| c.1567delG (p.Glu523fs) | Frameshift | <0.01% | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (nonsense, frameshift, splice-site) lead to reduced or absent UBA7 activity, impairing ISG15 conjugation and antiviral defense.
Gain of Function (GOF)
No gain-of-function mutations have been characterized in UBA7.
Dominant Negative (DN)
No dominant-negative mutations have been reported for UBA7.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-like modifier activating enzyme activity | • ISG15 activating enzyme activity |
| • protein conjugation | • response to interferon-alpha |
| • protein ubiquitination |
Pathways
• ISG15 conjugation pathway
• Type I interferon signaling
• Ubiquitin-like protein conjugation
Protein Summary
UBA7 (also known as UBE1L) is a 1058-amino acid E1 enzyme that specifically activates ISG15, a ubiquitin-like modifier induced by interferon. It catalyzes the first step of ISG15 conjugation (ISGylation) to target proteins, modulating antiviral immunity, DNA damage responses, and cell cycle control. Loss of UBA7 is implicated in multiple cancers and viral susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBA7 Knockout HEK293 Cell Line | EDJ-KQ3918 | Human | 7318 | Details Get a Quote |
| UBA7 Knockout HCT 116 Cell Line | EDJ-KQ26144 | Human | 7318 | Details Get a Quote |
| UBA7 Knockout HeLa Cell Line | EDJ-KQ24802 | Human | 7318 | Details Get a Quote |
| UBA7 Knockout A-549 Cell Line | EDJ-KQ63206 | Human | 7318 | Details Get a Quote |
