HACE1

HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1) is a protein that in humans is encoded by the HACE1 gene. HACE1 is an E3 ubiquitin-protein ligase that plays a crucial role in a variety of cellular processes, including the control of cell growth, cell proliferation, and tumor suppression.

Function[edit | edit source]

HACE1 functions as an E3 ubiquitin-protein ligase, a type of enzyme that catalyzes the transfer of ubiquitin from an E2 ubiquitin-conjugating enzyme to specific substrates, thereby targeting them for degradation by the proteasome. This process, known as ubiquitination, is a key mechanism for regulating protein levels within the cell.

HACE1 has been shown to ubiquitinate and promote the degradation of several proteins, including RAC1, a small GTPase involved in cell signaling. By controlling the levels of RAC1, HACE1 helps to regulate cell growth and proliferation.

Clinical significance[edit | edit source]

Mutations in the HACE1 gene have been associated with several types of cancer, including lung cancer, breast cancer, and gastric cancer. These mutations often result in a loss of HACE1 function, leading to increased levels of RAC1 and uncontrolled cell growth.

In addition, HACE1 has been implicated in the development of neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. Studies have shown that HACE1 levels are reduced in the brains of patients with these conditions, suggesting that it may play a role in their pathogenesis.