|Other Names||Ubiquitin-like modifier-activating enzyme 1, Protein A1S9, Ubiquitin-activating enzyme E1, UBA1, A1S9T, UBE1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin- proteasome system (PubMed:1606621, PubMed:1447181). 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 a ubiquitin-E1 thioester and free AMP (PubMed:1447181). Essential for the formation of radiation- induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334).|
|Cellular Location||Cytoplasm. Mitochondrion. Nucleus Isoform 2: Cytoplasm|
|Tissue Location||Detected in erythrocytes (at protein level). Ubiquitous.|
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The protein encoded by this gene catalyzes the first stepin ubiquitin conjugation to mark cellular proteins for degradation.This gene complements an X-linked mouse temperature-sensitivedefect in DNA synthesis, and thus may function in DNA repair. It ispart of a gene cluster on chromosome Xp11.23. Alternatively splicedtranscript variants that encode the same protein have beendescribed.
Burkhardt, J., et al. J. Rheumatol. 36(10):2149-2157(2009)Su, Z.L., et al. Leuk. Lymphoma 49(9):1821-1822(2008)Ramser, J., et al. Am. J. Hum. Genet. 82(1):188-193(2008)Carbia-Nagashima, A., et al. Cell 131(2):309-323(2007)Jin, J., et al. Nature 447(7148):1135-1138(2007)
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