Product Information
Molecular Weight117849Da
Protein NameUbiquitin-like modifier-activating enzyme 1
Human Gene Id7317
Human Swiss Prot NoP22314
Mouse Gene Id22201
Mouse Swiss Prot NoQ02053
Rat Gene Id314432
Rat Swiss Prot NoQ5U300
SpecificityUBA1 Polyclonal Antibody detects endogenous levels of UBA1 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameUBA1; A1S9T; UBE1; Ubiquitin-like modifier-activating enzyme 1; Protein A1S9; Ubiquitin-activating enzyme E1
Observed Band(KD)118
Functiondisease:Defects in UBA1 are the cause of spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]; also known as X-linked lethal infantile spinal muscular atrophy, distal X-linked arthrogryposis multiplex congenita or X-linked arthrogryposis type 1 (AMCX1). Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX2 is a lethal infantile form presenting with hypotonia, areflexia, and multiple congenital contractures.,function:Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin-E1 thioester and free AMP.,miscellaneous:There are two active sites within the E1 molecule, allowing it to accommodate two ubiquitin mo
Subcellular LocationCytoplasm . Mitochondrion . Nucleus .; [Isoform 1]: Nucleus .; [Isoform 2]: Cytoplasm .
ExpressionDetected in erythrocytes (at protein level). Ubiquitous.
Backgroundubiquitin like modifier activating enzyme 1(UBA1) Homo sapiens 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],