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References

These sources were used to develop the Genetics Home Reference gene summary on the UBA1 gene.

Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martínez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genet Med. 2007 Jan;9(1):52-60. PubMed citation
Entrez Gene
OMIM: UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 1
Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet. 2008 Jan;82(1):188-93. doi: 10.1016/j.ajhg.2007.09.009. PubMed citation
Schulman BA, Harper JW. Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signalling pathways. Nat Rev Mol Cell Biol. 2009 May;10(5):319-31. doi: 10.1038/nrm2673. Epub 2009 Apr 8. Review. PubMed citation
Zheng M, Liu J, Yang Z, Gu X, Li F, Lou T, Ji C, Mao Y. Expression, purification and characterization of human ubiquitin-activating enzyme, UBE1. Mol Biol Rep. 2010 Mar;37(3):1413-9. doi: 10.1007/s11033-009-9525-3. Epub 2009 Apr 3. PubMed citation

Reviewed: December 2009

Published: May 20, 2013