HACE1 wt Allele

Preferred Label : HACE1 wt Allele;

NCIt synonyms : KIAA1320; HECT Domain and Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1 wt Allele;

NCIt 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.;

GenBank Accession Number : BC034982;

Details

Origin ID

C119638;

UMLS CUI

C3889717;

Automatic exact mappings (from CISMeF team)
- HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [ORDO Gene]
- Hect domain- and ankyrin repeat-containing e3 ubiquitin protein ligase 1 [OMIM gene]
OMIM relation
- Hect domain- and ankyrin repeat-containing e3 ubiquitin protein ligase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Membrane Fusion Activity [NCIt concept]
- Signal Transduction [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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