UBE2E1
Description
The UBE2E1 (ubiquitin conjugating enzyme E2 E1) is a protein-coding gene located on chromosome 3.
UBE2E1 is a protein encoded by the UBE2E1 gene in humans. It's involved in the ubiquitination process, which targets proteins for degradation. Ubiquitination involves three types of enzymes: E1s, E2s, and E3s. UBE2E1 belongs to the E2 family, responsible for transferring ubiquitin to other proteins. Two different forms of UBE2E1 are produced due to alternative splicing. UBE2E1 has been shown to interact with Ataxin 1 and NEDD4.
UBE2E1 is also known as UBCH6.
Associated Diseases
- endometrial cancer
- esophageal cancer
- substance abuse
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- beta-thalassemia-X-linked thrombocytopenia syndrome
- hemoglobin D disease
- alpha-thalassemia-myelodysplastic syndrome
- primary familial polycythemia due to EPO receptor mutation
- alpha thalassemia-intellectual disability syndrome type 1
- X-linked sideroblastic anemia 1
