UBE1DC1

UBE1DC1

UBE1DC1 is a gene that encodes for the ubiquitin-activating enzyme E1 domain-containing protein 1. It is located on chromosome 20q13.33 and is involved in the ubiquitin-proteasome system, which plays a crucial role in protein degradation and turnover within cells.

Function

The UBE1DC1 protein is a member of the E1 enzyme family, which is responsible for activating ubiquitin molecules before they are transferred to target proteins. Ubiquitin is a small protein that acts as a tag, marking other proteins for degradation by the proteasome. This process is essential for maintaining cellular homeostasis and regulating various cellular processes, including cell cycle progression, DNA repair, and protein quality control.

UBE1DC1 specifically interacts with another protein called UBE2L3, also known as UBCH7, to form a functional E1-E2 complex. This complex facilitates the transfer of ubiquitin to target proteins, marking them for degradation. The precise targets and functions of UBE1DC1 are still being investigated, but it is believed to play a role in regulating protein stability and turnover.

Clinical Significance

Mutations or dysregulation of UBE1DC1 have been associated with various diseases and conditions. For example, studies have shown that UBE1DC1 is overexpressed in certain types of cancer, including breast cancer and hepatocellular carcinoma. This overexpression may contribute to the dysregulation of protein degradation pathways, leading to the accumulation of oncogenic proteins and tumor progression.

Additionally, UBE1DC1 has been implicated in neurodegenerative disorders such as Parkinson's disease and Alzheimer's disease. Dysfunction of the ubiquitin-proteasome system, including abnormalities in UBE1DC1, can result in the accumulation of misfolded or aggregated proteins, which are hallmarks of these neurodegenerative diseases.

See Also

• Ubiquitin
• Proteasome
• E1 enzyme family