8h8x
From Proteopedia
Cryo-EM structure of HACE1 monomer
Structural highlights
DiseaseHACE1_HUMAN Spastic paraplegia-severe developmental delay-epilepsy syndrome;Neuroblastoma. 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 (PubMed:19948536).[1] [2] The disease is caused by variants affecting the gene represented in this entry. FunctionHACE1_HUMAN 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.[3] [4] [5] References
|
Categories: Homo sapiens | Large Structures | Choong YK | Machida S | Ng J | Shanker S | Shi J | Singh S | Sivaraman J | Tulsian NK | Yaochen LD