Ubiquitin Activating Enzyme E1 (UAEE1) Antibody – Mouse Monoclonal

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

UBE1: an enzyme of the ubiquitin-activating E1 family. Adenylates ubiquitin at its carboxy-terminal glycine residue and thereafter links this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin-E1 thiolester. There are two active sites within the E1 molecule, allowing it to accomodate two ubiquitin moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to the thiol site. Complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair.

Protein type: Ubiquitin ligase; EC 6.3.2.19; Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: Xp11.23

Cellular Component: heterochromatin; desmosome; mitochondrion; lysosomal membrane; cytoplasm; endosome membrane; rough endoplasmic reticulum membrane; nucleus; cytosol

Molecular Function: protein binding; ubiquitin-protein ligase activity; ubiquitin activating enzyme activity; ATP binding

Biological Process: modification-dependent protein catabolic process; protein ubiquitination; response to DNA damage stimulus

Disease: Spinal Muscular Atrophy, X-linked 2