E3 Ubiquitin-Protein Ligase HACE1 (HACE1) ELISA Kit for Human

HACE1: E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB. Defects in HACE1 are a cause of Wilms tumor (WT). WT is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. HACE1 is epigenetically down-regulated in sporadic Wilms tumor. Moreover, a t(5;6)(q21;q21) translocation that truncates HACE1 has been found in a child with bilateral, young-onset Wilms tumor. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 6.3.2.19; Ubiquitin conjugating system; Ubiquitin ligase; Ligase; EC 6.3.2.-

Chromosomal Location of Human Ortholog: 6q16.3

Cellular Component: endoplasmic reticulum; Golgi membrane

Molecular Function: ligase activity; protein binding; Rab GTPase binding; Rac GTPase binding; ubiquitin-protein ligase activity

Biological Process: cell cycle; Golgi organization and biogenesis; protein ubiquitination; protein ubiquitination during ubiquitin-dependent protein catabolic process; Rac protein signal transduction; regulation of cell migration; regulation of transcription, DNA-dependent; transcription, DNA-dependent