Aliases for HACE1 Gene
External Ids for HACE1 Gene
Previous GeneCards Identifiers for HACE1 Gene
This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]
GeneCards Summary for HACE1 Gene
HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with HACE1 include Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures and Neuroblastoma. Among its related pathways are Class I MHC mediated antigen processing and presentation and SMAD Signaling Network. Gene Ontology (GO) annotations related to this gene include ligase activity and Rab GTPase binding. An important paralog of this gene is NEDD4L.
UniProtKB/Swiss-Prot for HACE1 Gene
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.