UBE2J1
Description
The UBE2J1 (ubiquitin conjugating enzyme E2 J1) is a protein-coding gene located on chromosome 6.
UBE2J1 is a human gene that encodes a protein known as Ubiquitin-conjugating enzyme E2 J1. This protein plays a critical role in the ubiquitination process, a cellular mechanism responsible for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves three main enzyme classes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). UBE2J1 belongs to the E2 family and is located in the membrane of the endoplasmic reticulum (ER). It contributes to quality control ER-associated degradation by the ubiquitin-proteasome system.
UBE2J1 catalyzes the covalent attachment of ubiquitin to other proteins, a process known as ubiquitination. It plays a crucial role in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD), ensuring cells can recover from ER stress. Additionally, UBE2J1 participates in MAPKAPK2-dependent translational control of TNF-alpha synthesis. It acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1 through interaction with the E3 ubiquitin-protein ligase RNF26. Notably, UBE2J1 is involved in male fecundity through its interaction with the E3 ubiquitin-protein ligase RNF133.
UBE2J1 is also known as CGI-76, HSPC153, HSPC205, HSU93243, NCUBE-1, NCUBE1, UBC6, UBC6E, Ubc6p.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 65
- partial chromosome Y deletion
- spermatogenic failure 72
- spermatogenic failure 27
- spermatogenic failure 46
- spermatogenic failure 18
- spermatogenic failure, X-linked, 3
- spermatogenic failure 42
- spermatogenic failure 39
- spermatogenic failure 40
- spermatogenic failure 49
- spermatogenic failure 45
- spermatogenic failure 43
- spermatogenic failure 19
- spermatogenic failure 51
- spermatogenic failure 47
- spermatogenic failure 41
- spermatogenic failure 10
- spermatogenic failure 11
- spermatogenic failure 20
