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Gene Review

UBA1  -  ubiquitin-like modifier activating enzyme 1

Homo sapiens

Synonyms: A1S9, A1S9T, A1ST, AMCX1, CFAP124, ...
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Disease relevance of UBE1


High impact information on UBE1


Biological context of UBE1


Anatomical context of UBE1


Associations of UBE1 with chemical compounds


Regulatory relationships of UBE1

  • A 420-kb YAC clone positive for PCTK1 also contains the gene coding for ubiquitin-activating enzyme UBE1, previously mapped in Xp11.3, indicating close physical linkage of these genes [16].
  • This was demonstrated by inhibition of CD4 degradation (i) in cells expressing a thermally inactivated form of the ubiquitin-activating enzyme E1 or (ii) following expression of a mutant form of ubiquitin (Lys48 mutated to Arg48) known to compromise ubiquitin targeting by interfering with the formation of polyubiquitin complexes [17].

Other interactions of UBE1

  • A homologue of UBE1, UBE1L, is located at 3p21 [18].
  • We had previously generated a YAC contig in this region extending from UBE1 to the OATL1 locus [19].
  • A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status [20].
  • These data enable the expansion of the present physical map of the X chromosome from UBE1 to the GATA locus, covering a large portion of the Xp11.23 region [19].
  • For both markers the short arm breakpoints were localised between UBE1 and DXS423E [21].

Analytical, diagnostic and therapeutic context of UBE1


  1. Cloning and expression of cDNA encoding a human ubiquitin-conjugating enzyme similar to the Drosophila bendless gene product. Yamaguchi, T., Kim, N.S., Sekine, S., Seino, H., Osaka, F., Yamao, F., Kato, S. J. Biochem. (1996) [Pubmed]
  2. Molecular cloning of human A1S9 locus: an X-linked gene essential for progression through S phase of the cell cycle. Zacksenhaus, E., Sheinin, R. Somat. Cell Mol. Genet. (1989) [Pubmed]
  3. A candidate spermatogenesis gene on the mouse Y chromosome is homologous to ubiquitin-activating enzyme E1. Kay, G.F., Ashworth, A., Penny, G.D., Dunlop, M., Swift, S., Brockdorff, N., Rastan, S. Nature (1991) [Pubmed]
  4. Correcting temperature-sensitive protein folding defects. Brown, C.R., Hong-Brown, L.Q., Welch, W.J. J. Clin. Invest. (1997) [Pubmed]
  5. Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication. Zacksenhaus, E., Sheinin, R. EMBO J. (1990) [Pubmed]
  6. X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. Carrel, L., Clemson, C.M., Dunn, J.M., Miller, A.P., Hunt, P.A., Lawrence, J.B., Willard, H.F. Hum. Mol. Genet. (1996) [Pubmed]
  7. Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23. Hagemann, T., Surosky, R., Monaco, A.P., Lehrach, H., Rosen, F.S., Kwan, S.P. Genomics (1994) [Pubmed]
  8. Mapping and expression of the ubiquitin-activating enzyme E1 (Ube1) gene in the mouse. Disteche, C.M., Zacksenhaus, E., Adler, D.A., Bressler, S.L., Keitz, B.T., Chapman, V.M. Mamm. Genome (1992) [Pubmed]
  9. Maintenance of X inactivation of the Rps4, Zfx, and Ube1 genes in a mouse in vitro system. Bressler, S.L., Lee, K.H., Adler, D.A., Chapman, V.M., Disteche, C.M. Somat. Cell Mol. Genet. (1993) [Pubmed]
  10. Gene synthesis, expression, structures, and functional activities of site-specific mutants of ubiquitin. Ecker, D.J., Butt, T.R., Marsh, J., Sternberg, E.J., Margolis, N., Monia, B.P., Jonnalagadda, S., Khan, M.I., Weber, P.L., Mueller, L. J. Biol. Chem. (1987) [Pubmed]
  11. Identification of p54(nrb) and the 14-3-3 Protein HS1 as TNF-alpha-inducible genes related to cell cycle control and apoptosis in human arterial endothelial cells. Stier, S., Totzke, G., Gruewald, E., Neuhaus, T., Fronhoffs, S., Schoneborn, S., Vetter, H., Ko, Y. J. Biochem. Mol. Biol. (2005) [Pubmed]
  12. Identification and characteristics of a novel E1 like gene nUBE1L in human testis. Zhu, H., Zhou, Z.M., Huo, R., Huang, X.Y., Lu, L., Lin, M., Wang, L.R., Zhou, Y.D., Li, J.M., Sha, J.H. Acta Biochim. Biophys. Sin. (Shanghai) (2004) [Pubmed]
  13. Expression and accurate processing of yeast penta-ubiquitin in Escherichia coli. Jonnalagadda, S., Butt, T.R., Marsh, J., Sternberg, E.J., Mirabelli, C.K., Ecker, D.J., Crooke, S.T. J. Biol. Chem. (1987) [Pubmed]
  14. Expression of stress proteins in human mononuclear phagocytes. Joslin, G., Hafeez, W., Perlmutter, D.H. J. Immunol. (1991) [Pubmed]
  15. Synthesis and characterization of fluorescent ubiquitin derivatives as highly sensitive substrates for the deubiquitinating enzymes UCH-L3 and USP-2. Tirat, A., Schilb, A., Riou, V., Leder, L., Gerhartz, B., Zimmermann, J., Worpenberg, S., Eidhoff, U., Freuler, F., Stettler, T., Mayr, L., Ottl, J., Leuenberger, B., Filipuzzi, I. Anal. Biochem. (2005) [Pubmed]
  16. Physical linkage of the cdc2-related gene (PCTK1) and the ubiquitin-activating enzyme E1 gene (UBE1) on human Xp11.3. Knight, J.C., Renwick, P.J., Downing, J.R., Okuda, T. Cytogenet. Cell Genet. (1995) [Pubmed]
  17. CD4 glycoprotein degradation induced by human immunodeficiency virus type 1 Vpu protein requires the function of proteasomes and the ubiquitin-conjugating pathway. Schubert, U., Antón, L.C., Bacík, I., Cox, J.H., Bour, S., Bennink, J.R., Orlowski, M., Strebel, K., Yewdell, J.W. J. Virol. (1998) [Pubmed]
  18. An evolutionary rearrangement of the Xp11.3-11.23 region in 3p21.3, a region frequently deleted in a variety of cancers. Timmer, T., Terpstra, P., van den Berg, A., Veldhuis, P.M., Ter Elst, A., van der Veen, A.Y., Kok, K., Naylor, S.L., Buys, C.H. Genomics (1999) [Pubmed]
  19. A high-resolution map of genes, microsatellite markers, and new dinucleotide repeats from UBE1 to the GATA locus in the region Xp11.23. Kwan, S.P., Hagemann, T.L., Blaese, R.M., Rosen, F.S. Genomics (1995) [Pubmed]
  20. A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status. Coleman, M.P., Ambrose, H.J., Carrel, L., Németh, A.H., Willard, H.F., Davies, K.E. Genomics (1996) [Pubmed]
  21. Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation. Callen, D.F., Eyre, H.J., Dolman, G., Garry-Battersby, M.B., McCreanor, J.R., Valeba, A., McGill, J.J. J. Med. Genet. (1995) [Pubmed]
  22. The ubiquitin-activating enzyme E1-like protein in lung cancer cell lines. McLaughlin, P.M., Helfrich, W., Kok, K., Mulder, M., Hu, S.W., Brinker, M.G., Ruiters, M.H., de Leij, L.F., Buys, C.H. Int. J. Cancer (2000) [Pubmed]
  23. S-thiolation mimicry: quantitative and kinetic analysis of redox status of protein cysteines by glutathione-affinity chromatography. Niture, S.K., Velu, C.S., Bailey, N.I., Srivenugopal, K.S. Arch. Biochem. Biophys. (2005) [Pubmed]
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