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Gene Review

ASXL1  -  additional sex combs like transcriptional...

Homo sapiens

Synonyms: Additional sex combs-like protein 1, BOPS, KIAA0978, MDS
 
 
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Disease relevance of ASXL1

 

High impact information on ASXL1

  • Systematic binding assays showed that the C-terminal nuclear receptor box (LVMQLL) of ASXL1 and the activation function-2 activation domain (AF-2 AD) core of the RAR are critical for ligand-dependent interaction [2].
  • Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor [2].
  • Additional sex comb-like 1 (ASXL1, 170 kDa), a mammalian homolog of Drosophila ASX, was identified as a protein that interacts with retinoic acid receptor (RAR) in the presence of retinoic acid (RA) [2].
  • The predicted amino acid sequence of Asxl1 has 16% identity and 40% similarity to Drosophila Asx, and 74% identity and 81% similarity to human ASXL1 [3].
  • ASXL1 maps to chromosome 20q11, a region frequently amplified in human tumors [1].
 

Biological context of ASXL1

  • Overall, the amino acid sequence of ASXL1 has 21% identity and 41% similarity to Drosophila ASX [1].
  • The ASXL1 protein contains a 118 amino acid conserved amino terminal region of unknown function that we term the ASX homology domain (ASXH) that contains two LXXLL consensus sequences for nuclear receptor binding [1].
  • Here, we searched for ASXL1-related gene within the human genome by using bioinformatics, and identified the ASXL2 gene [4].
  • In addition to the intrinsic transactivation function of ASXL1, its cotransfection together with an RA-responsive luciferase reporter increased the RAR activity [2].
 

Associations of ASXL1 with chemical compounds

  • Proline-rich domain was located within the divergent region of ASXL3, but not within that of ASXL1 and ASXL2 [5].
  • ASXL1 also contains a conserved C-terminal cysteine cluster that is a variant of the PHD domain [1].
 

Other interactions of ASXL1

  • ASXL3 was a predicted cancer-associated gene, just like ASXL1 and ASXL2 [5].
 

Analytical, diagnostic and therapeutic context of ASXL1

References

  1. A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11. Fisher, C.L., Berger, J., Randazzo, F., Brock, H.W. Gene (2003) [Pubmed]
  2. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. Cho, Y.S., Kim, E.J., Park, U.H., Sin, H.S., Um, S.J. J. Biol. Chem. (2006) [Pubmed]
  3. Characterization of Asxl1, a murine homolog of Additional sex combs, and analysis of the Asx-like gene family. Fisher, C.L., Randazzo, F., Humphries, R.K., Brock, H.W. Gene (2006) [Pubmed]
  4. Identification and characterization of ASXL2 gene in silico. Katoh, M., Katoh, M. Int. J. Oncol. (2003) [Pubmed]
  5. Identification and characterization of ASXL3 gene in silico. Katoh, M., Katoh, M. Int. J. Oncol. (2004) [Pubmed]
 
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