UBR1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human UBR1 wild-type allele is located in the vicinity of 15q15.2 and is approximately 163 kb in length. This allele, which encodes E3 ubiquitin-protein ligase UBR1 protein, is involved in the N-end rule protein ubiquitination and degradation pathway. Mutations in the gene are associated with Johanson-Blizzard syndrome.

**Synonyms:** - E3a Ligase Gene - JBS - Ubiquitin Ligase E3 Alpha-I Gene - Ubiquitin Protein Ligase E3 Component N-Recognin 1 wt Allele - Ubiquitin-Protein Ligase E3 Component N-Recognin 1 Gene - Ubiquitin-Protein Ligase E3-Alpha Gene