UBA6: Ubiquitin-Like Modifier Activating Enzyme 6
A key E1 enzyme in ubiquitin and FAT10 conjugation pathways, implicated in immune regulation and cancer.
Gene Information Card
| Symbol | UBA6 |
|---|---|
| Full Name | Ubiquitin-like modifier activating enzyme 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 55236 ncbi.nlm.nih.gov/gene/55236 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | A0AVT1 |
| OMIM ID | 611358 |
| HGNC ID | 25581 |
| Aliases | E1-L2, MOP-4, UBE1L2 |
Description
UBA6 (Ubiquitin-like modifier activating enzyme 6) encodes an E1 activating enzyme that initiates the conjugation of ubiquitin and the ubiquitin-like modifier FAT10 to target proteins. It is essential for protein degradation via the proteasome and plays roles in immune response, cell cycle regulation, and apoptosis. UBA6 is the only E1 enzyme known to activate both ubiquitin and FAT10, distinguishing it from other E1 enzymes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ubiquitin/FAT10 conjugation affects protein turnover and signaling pathways | COSMIC database reports somatic mutations in multiple cancer types |
| Autoinflammatory disorders | Altered FAT10 conjugation may impact immune signaling | Inferred from functional studies; limited direct clinical evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression in embryonic kidney cells |
| HeLa | 14.2 | Moderate expression in cervical cancer cells |
| K562 | 9.8 | Moderate expression in leukemia cells |
| HepG2 | 5.6 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% (COSMIC) | Unknown functional impact; located in catalytic domain |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | 0.01% (COSMIC) | Predicted loss of function due to premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely impair E1 enzymatic activity, reducing ubiquitin/FAT10 conjugation.
Gain of Function (GOF)
Not reported; no activating mutations documented.
Dominant Negative (DN)
Not reported; no evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin-proteasome pathway (Reactome: R-HSA-983168)
• FAT10 conjugation pathway (Reactome: R-HSA-983169)
Protein Summary
UBA6 is a 1052-amino acid E1 enzyme that activates ubiquitin and FAT10 via ATP-dependent adenylation and thioester formation. It transfers activated ubiquitin/FAT10 to cognate E2 enzymes (e.g., USE1). The protein contains an active site cysteine (Cys625) essential for thioester bond formation. UBA6 is widely expressed, with highest levels in testis and lymphoid tissues, and is involved in protein turnover, immune signaling, and cell cycle control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBA6 Knockout HEK293 Cell Line | EDJ-KQ15205 | Human | 55236 | Details Get a Quote |
| UBA6 Knockout A-549 Cell Line | EDJ-KQ47063 | Human | 55236 | Details Get a Quote |
| UBA6 Knockout HCT 116 Cell Line | EDJ-KQ47065 | Human | 55236 | Details Get a Quote |
| UBA6 Knockout HeLa Cell Line | EDJ-KQ47066 | Human | 55236 | Details Get a Quote |
