DTX1
Description
The DTX1 (deltex E3 ubiquitin ligase 1) is a protein-coding gene located on chromosome 12.
Deltex-1 is a protein encoded by the DTX1 gene in humans. Studies in Drosophila have identified this gene as a positive regulator of the Notch signaling pathway. The human gene encodes a protein of unknown function, but it may play a role in basic helix-loop-helix transcription factor activity. DTX1 has been shown to interact with EP300.
DTX1 acts as a ubiquitin ligase protein in vivo, mediating ubiquitination and promoting degradation of MEKK1, suggesting a role in regulating the Notch pathway. It is a key regulator of Notch signaling, a crucial pathway involved in cell-cell communication and a wide range of cell fate decisions. While DTX1 primarily acts as a positive regulator of Notch, its function can also be negative depending on the developmental and cellular context. It contributes to the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. DTX1 plays a role in neurogenesis, lymphogenesis, and myogenesis, and may also be involved in marginal zone B (MZB) cell differentiation. It promotes B-cell development at the expense of T-cell development, suggesting an antagonistic relationship with NOTCH1.
DTX1 is also known as RNF140, hDx-1.
Associated Diseases
- ovarian cancer
- endometrial cancer
- common variable immunodeficiency
- isolated agammaglobulinemia
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- immunodeficiency 72 with autoinflammation
- combined immunodeficiency due to ZAP70 deficiency
