DTX3
Description
The DTX3 (deltex E3 ubiquitin ligase 3) is a protein-coding gene located on chromosome 12.
DTX3 is a protein encoded by the DTX3 gene in humans, acting as a probable E3 ubiquitin-protein ligase. Three isoforms exist: DTX3a, DTX3b, and DTX3c, differing in their N-terminal regions. DTX3a and DTX3b have distinct N-terminal sequences, while DTX3c combines both with a single amino acid substitution. Primarily, DTX3 functions as an E3 ubiquitin ligase and generally exhibits a tumor-suppressing effect in human cancers. However, exceptions exist, possibly due to the lack of distinction between isoforms.
DTX3 regulates Notch signaling, a crucial pathway for cell-to-cell communication that controls various cell fates. DTX3 can act as both a positive and negative regulator of Notch, depending on the developmental stage and cellular environment. Its function as an ubiquitin ligase protein in vitro suggests it might regulate the Notch pathway through ubiquitination.
DTX3 is also known as RNF154, deltex3.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha thalassemia-intellectual disability syndrome type 1
- vertebral disorder
- delta-beta-thalassemia
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
- hemolytic anemia due to adenylate kinase deficiency
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- Heinz body anemia
- dominant beta-thalassemia
- hemoglobin H disease
