| Property | Value | [1]
|----------|-------| [2]
| Gene Symbol | UBE2D1 | [3]
| Full Name | Ubiquitin-Conjugating Enzyme E2 D1 | [4]
| Chromosomal Location | 10p11.21 | [5]
| NCBI Gene ID | 7329 |
| Ensembl ID | ENSG00000100994 |
| UniProt ID | P51668 |
| Aliases | UBC4/5, UBCH5, SFT |
UBE2D1 (Ubiquitin-Conjugating Enzyme E2 D1) is a member of the ubiquitin-conjugating enzyme family that functions as an E2 ubiquitin-conjugating enzyme in the ubiquitin-proteasome system. It works in conjunction with E3 ubiquitin ligases to transfer ubiquitin to substrate proteins, marking them for proteasomal degradation or altering their function, localization, or interactions.
| Disease | Mechanism | Inheritance |
|---|---|---|
| Alzheimer's Disease | Involved in degradation of amyloid precursor protein (APP) processing intermediates; regulates BACE1 and presenilin turnover | Complex |
| Parkinson's Disease | Participates in mitophagy regulation; works with PINK1-PARKIN pathway for mitochondrial quality control | Complex |
| Amyotrophic Lateral Sclerosis (ALS) | Regulates TDP-43 and FUS turnover; involved in degradation of mutant SOD1 | Complex |
| Huntington's Disease | Targets mutant huntingtin protein for degradation; regulates protein aggregate clearance | Complex |
UBE2D1 is ubiquitously expressed in all human tissues, with high expression in:
David et al. UBCH5/UBCH5A in p53 ubiquitination (2010). 2010. ↩︎
Liu et al. Role of UBE2D1 in Parkinson's disease mitophagy (2022). 2022. ↩︎
Rott et al. UBCH5 in Alzheimer's disease amyloid metabolism (2011). 2011. ↩︎
Fiesel et al. UBE2D1 and the PINK1-Parkin pathway (2015). 2015. ↩︎
Tsai et al. UBCH5 in Huntington's disease (2018). 2018. ↩︎