HERC6
HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 6
Gene Information Card
| Symbol | HERC6 |
|---|---|
| Full Name | HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 55008 ncbi.nlm.nih.gov/gene/55008 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q8IVU3 |
| OMIM ID | 609249 |
| HGNC ID | 23472 |
| Aliases | HECTD6, MGC33887 |
Description
HERC6 (HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 6) is a protein-coding gene that belongs to the HERC family of E3 ubiquitin ligases. It contains a HECT domain and a regulator of chromosome condensation 1-like domain (RLD). HERC6 is involved in ubiquitination and degradation of target proteins, and is induced by interferon stimulation, playing a role in antiviral immunity and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ubiquitination disorders | Impaired protein degradation due to HERC6 dysfunction | PMID: 21549307 |
| Viral infections | Interferon-induced HERC6 restricts viral replication | PMID: 23408620 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.7 | Low |
| Testis | 15.2 | Medium |
| Thyroid | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.4 | Interferon treatment increases expression |
| HeLa | 7.8 | Basal expression |
| THP-1 | 14.2 | Induced by IFN-gamma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys, unknown significance |
| c.567delA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein and loss of E3 ligase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • zinc ion binding | • cytoplasm |
| • nucleus |
Pathways
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• Interferon signaling (Reactome R-HSA-913531)
Protein Summary
HERC6 is a 1021-amino acid protein with a molecular weight of approximately 116 kDa. It contains an N-terminal RLD domain and a C-terminal HECT domain responsible for E3 ubiquitin ligase activity. The protein is localized in the cytoplasm and nucleus, and its expression is upregulated by type I interferons, contributing to antiviral responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HERC6 Knockout HEK293 Cell Line | EDJ-KQ13740 | Human | 55008 | Details Get a Quote |
| HERC6 Knockout A-549 Cell Line | EDJ-KQ43503 | Human | 55008 | Details Get a Quote |
| HERC6 Knockout HCT 116 Cell Line | EDJ-KQ43504 | Human | 55008 | Details Get a Quote |
| HERC6 Knockout HeLa Cell Line | EDJ-KQ43505 | Human | 55008 | Details Get a Quote |
