C119638Level 6
HACE1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human HACE1 wild-type allele is located in the vicinity of 6q16.3 and is approximately 132 kb in length. This allele, which encodes E3 ubiquitin-protein ligase HACE1 protein, plays a role in the modulation of both Golgi membrane dynamics and ubiquitination. Mutations of the gene, including translocations that either reduce expression of the gene (t(6;15)(q21;q21)) or truncate the gene (t(5;6)(q21;q21)), are associated with Wilms tumor.
**Synonyms:** - HECT Domain and Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1 wt Allele - KIAA1320
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