Target：UBA1

Fields：Ubiquitin mediated proteolysis;Parkinson disease;Pathways of neurodegeneration - multiple diseases

Gene Name：UBA1

Protein Name：Ubiquitin-like modifier-activating enzyme 1

Human Gene Id：7317

Human Swiss Prot No：P22314

Mouse Gene Id：22201

Mouse Swiss Prot No：Q02053

Rat Gene Id：314432

Rat Swiss Prot No：Q5U300

Immunogen：The antiserum was produced against synthesized peptide derived from the N-terminal region of human UBA1. AA range:91-140

Specificity：UBA1 Polyclonal Antibody detects endogenous levels of UBA1 protein.

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500 - 1:2000. ELISA: 1:20000. Not yet tested in other applications.

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：UBA1;A1S9T;UBE1;Ubiquitin-like modifier-activating enzyme 1;Protein A1S9;Ubiquitin-activating enzyme E1

Observed Band(KD)：118kD

Background： 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],

Function：disease: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 Location：Cytoplasm . Mitochondrion . Nucleus .; [Isoform 1]: Nucleus .; [Isoform 2]: Cytoplasm .

Expression：Detected in erythrocytes (at protein level). Ubiquitous.