Biology:HUWE1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

E3 ubiquitin-protein ligase HUWE1 is an enzyme that in humans is encoded by the HUWE1 gene.[1][2][3]

It performs the third step (ligation) in binding ubiquitin to proteins in a process called ubiquitination which tags the proteins for disposal.

Human genetic studies that implicate HUWE1 in intellectual disability.[4] Additional research suggests HUWE1 has implications in cancer research.

References

  1. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research 4 (2): 141–50. April 1997. doi:10.1093/dnares/4.2.141. PMID 9205841. 
  2. "The lore of the RINGs: substrate recognition and catalysis by ubiquitin ligases". Trends in Cell Biology 10 (10): 429–39. October 2000. doi:10.1016/S0962-8924(00)01834-1. PMID 10998601. 
  3. "Entrez Gene: HUWE1 HECT, UBA and WWE domain containing 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10075. 
  4. "Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease". Neural Development 15 (1): 6. April 2020. doi:10.1186/s13064-020-00143-9. PMID 32336296. 

Further reading

External links