The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets damaged or unneeded proteins to be broken down (degraded) within cells. Protein degradation helps maintain the proper balance of protein production and breakdown (protein homeostasis). Old proteins need to be removed to make way for new proteins to allow cells to function and survive. The ubiquitin-proteasome system acts as the cell’s quality control system by disposing of damaged, misshapen, and excess proteins.
Ubiquitin-activating enzyme E1 is responsible for the first step in the ubiquitin-proteasome system; it turns on (activates) a small protein called ubiquitin. With the assistance of other proteins, the active ubiquitin attaches to a protein that is to be broken down. When a chain of ubiquitin proteins is attached to a protein, the protein is recognized and destroyed by a complex of enzymes called a proteasome.
Other Names
GXP1; SMAX2; UBA1, ubiquitin-activating enzyme E1 homolog A; UBA1_HUMAN; UBA1A; UBE1; UBE1X; ubiquitin-activating enzyme E1; ubiquitin-like modifier activating enzyme 1
Related Genetics Topics
- X-linked infantile spinal muscular atrophy — MedlinePlus Genetics
- VEXAS syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 7317
- OMIM: 314370
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
