HACE1

Description

The HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1) is a protein-coding gene located on chromosome 6.

HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1) is a human protein encoded by the HACE1 gene. It functions as a ubiquitin ligase, tagging target proteins for subcellular localization or degradation. This process involves the addition of ubiquitin molecules to the target protein, marking it for specific cellular pathways. HACE1 plays a role in the regulation of Golgi membrane dynamics, a key component of the cellular machinery responsible for protein sorting and packaging. It is implicated in the pathophysiology of several tumors, including Wilm's tumor, and is considered a potential tumor suppressor.

HACE1 is an E3 ubiquitin ligase involved in Golgi membrane fusion and regulation of small GTPases. It acts as a regulator of Golgi membrane dynamics during the cell cycle, being recruited to the Golgi membrane by Rab proteins and regulating postmitotic Golgi membrane fusion. HACE1 mediates ubiquitination during mitotic Golgi disassembly, with ubiquitination serving as a signal for Golgi reassembly after cell division. Specifically, it interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, playing a role in host defense against pathogens. HACE1 may also act as a transcription regulator via its interaction with RARB.

HACE1 is also known as SPPRS.

Associated Diseases

• Spastic paraplegia-severe developmental delay-epilepsy syndrome
• Spastic paraplegia and psychomotor retardation with or without seizures
• Neuroblastoma