UBA1 : ubiquitin like modifier activating enzyme 1
Description
The UBA1 (ubiquitin like modifier activating enzyme 1) is a protein-coding gene located on chromosome X.
The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1, which is essential for the ubiquitin-proteasome system. This system targets damaged or unneeded proteins for breakdown within cells, ensuring a proper balance of protein production and degradation (protein homeostasis). Old proteins must be removed to allow space for new proteins, enabling cells to function and survive. The ubiquitin-proteasome system acts as the cell's quality control system, eliminating damaged, misshapen, and excess proteins. Ubiquitin-activating enzyme E1 initiates this process by activating a small protein called ubiquitin. With the assistance of other proteins, the activated ubiquitin attaches to a protein destined for breakdown. When a chain of ubiquitin proteins is attached to a protein, it is recognized and destroyed by a complex of enzymes known as a proteasome.
UBA1, also known as ubiquitin-activating enzyme E1, plays a crucial role in the ubiquitin-proteasome system (UPS) by initiating the process of ubiquitination, marking cellular proteins for degradation. It activates ubiquitin through a two-step process: first, it adenylates the C-terminal glycine residue of ubiquitin using ATP, then it links this residue to a cysteine residue in E1, forming a ubiquitin-E1 thioester and releasing AMP. This activation step is essential for the UPS to target and remove damaged, misfolded, or unnecessary proteins, maintaining cellular protein homeostasis. Furthermore, UBA1 is vital for the formation of radiation-induced foci, timely DNA repair, and responding to replication stress. It facilitates the recruitment of TP53BP1 and BRCA1 to DNA damage sites, further highlighting its involvement in maintaining genomic stability.
UBA1 is also known as A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, VEXAS.
Associated Diseases
- Infantile-onset X-linked spinal muscular atrophy
- Spinal muscular atrophy, X-linked 2
- VEXAS syndrome, somatic
- X-linked infantile spinal muscular atrophy
- VEXAS syndrome
