HERC3
Description
The HERC3 (HECT and RLD domain containing E3 ubiquitin protein ligase 3) is a protein-coding gene located on chromosome 4.
HERC3 is an enzyme encoded by the HERC3 gene in humans. It belongs to the HERC family of ubiquitin ligases and features a HECT domain and an RCC1-like domain (RLD). HERC3 interacts with ubiquitin and hPLIC-1/2 through its HECT domain. Multiple protein isoforms are generated through alternative splicing, and mutations in this gene have been linked to colorectal and gastric cancers. HERC3 resides in the cytosol and within vesicle-like structures that contain β-COP, ARF, and Rab5. As HERC3 can undergo ubiquitination and degradation by the proteasome, it likely plays roles in both vesicular transport and ubiquitin-dependent processes.
HERC3 acts as an E3 ubiquitin ligase, accepting ubiquitin from an E2 ubiquitin-conjugating enzyme through a thioester linkage. It then directly transfers the ubiquitin to specific target proteins.
HERC3 is also known as -.
Associated Diseases
- substance abuse
- chondromalacia
- spinocerebellar ataxia type 12
- Huntington disease-like syndrome due to C9ORF72 expansions
- X-linked spinocerebellar ataxia type 4
- spinocerebellar ataxia type 20
- Huntington disease-like 2
- spinocerebellar ataxia type 28
- corticobasal syndrome
- spastic ataxia 2
