Home
>
Product
>
Antibody
>
Rabbit Anti-E1 Ubiquitin Activating Enzyme/FITC Conjugated antibody
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:
Activates ubiquitin by first adenylating its SLCterminal 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.
Subunit:
Monomer (By similarity). Interacts with GAN (via BTB domain).
Post-translational modifications:
ISGylated.
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.
Similarity:
Belongs to the ubiquitin-activating E1 family.
Database links:
Entrez Gene: 7317 Human
Entrez Gene: 22201 Mouse
Entrez Gene: 314432 Rat
Omim: 314370 Human
SwissProt: P22314 Human
SwissProt: Q02053 Mouse
SwissProt: Q5U300 Rat
Unigene: 533273 Human
Unigene: 1104 Mouse
Unigene: 474674 Mouse
Unigene: 2360 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
