Biology:HUWE1

From HandWiki
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/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=10075. 
  4. ↑ "Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease". Neural Development 15 (1). April 2020. doi:10.1186/s13064-020-00143-9. PMID 32336296. 

Further reading