UBR3
Description
The UBR3 (ubiquitin protein ligase E3 component n-recognin 3) is a protein-coding gene located on chromosome 2.
UBR3 is an E3 ubiquitin-protein ligase that participates in the N-end rule pathway. It doesn't bind to proteins with destabilizing N-terminal residues, preventing their ubiquitination and degradation. UBR3 might be involved in Shh signaling by ubiquitinating Kif7. It could also play a role in MYH9 function by regulating its ubiquitination and influencing its interaction with MYO7A.
UBR3 is also known as ZNF650.
Associated Diseases
- obesity due to melanocortin 4 receptor deficiency
- hypogonadotropic hypogonadism
- isolated congenital hypogonadotropic hypogonadism
- Usher syndrome
- cancer
- achalasia-alacrima syndrome
- pancreatic ductal adenocarcinoma
- type 1 diabetes mellitus
