HUWE1 explained

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.

Further reading

• Gu J, Dubner R, Fornace AJ, Iadarola MJ . UREB1, a tyrosine phosphorylated nuclear protein, inhibits p53 transactivation . Oncogene . 11 . 10 . 2175–8 . November 1995 . 7478539 .
• Gu J, Ren K, Dubner R, Iadarola MJ . Cloning of a DNA binding protein that is a tyrosine kinase substrate and recognizes an upstream initiator-like sequence in the promoter of the preprodynorphin gene . Brain Research. Molecular Brain Research . 24 . 1–4 . 77–88 . July 1994 . 7968380 . 10.1016/0169-328X(94)90120-1 .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . vanc .
• Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O . Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Research . 7 . 4 . 273–81 . August 2000 . 10997877 . 10.1093/dnares/7.4.271 . vanc . free .
• Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z . 6 . Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells . Genome Research . 10 . 10 . 1546–60 . October 2000 . 11042152 . 310934 . 10.1101/gr.140200 . vanc .
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP . 6 . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proceedings of the National Academy of Sciences of the United States of America . 101 . 33 . 12130–5 . August 2004 . 15302935 . 514446 . 10.1073/pnas.0404720101 . 2004PNAS..10112130B . vanc . free .
• Yoon SY, Lee Y, Kim JH, Chung AS, Joo JH, Kim CN, Kim NS, Choe IS, Kim JW . 6 . Over-expression of human UREB1 in colorectal cancer: HECT domain of human UREB1 inhibits the activity of tumor suppressor p53 protein . Biochemical and Biophysical Research Communications . 326 . 1 . 7–17 . January 2005 . 15567145 . 10.1016/j.bbrc.2004.11.004 . vanc .
• Liu Z, Oughtred R, Wing SS . Characterization of E3Histone, a novel testis ubiquitin protein ligase which ubiquitinates histones . Molecular and Cellular Biology . 25 . 7 . 2819–31 . April 2005 . 15767685 . 1061639 . 10.1128/MCB.25.7.2819-2831.2005 .
• Chen D, Kon N, Li M, Zhang W, Qin J, Gu W . ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor . Cell . 121 . 7 . 1071–83 . July 2005 . 15989956 . 10.1016/j.cell.2005.03.037 . vanc . 16176749 . free .
• Zhong Q, Gao W, Du F, Wang X . Mule/ARF-BP1, a BH3-only E3 ubiquitin ligase, catalyzes the polyubiquitination of Mcl-1 and regulates apoptosis . Cell . 121 . 7 . 1085–95 . July 2005 . 15989957 . 10.1016/j.cell.2005.06.009 . 16656949 . free .
• Warr MR, Acoca S, Liu Z, Germain M, Watson M, Blanchette M, Wing SS, Shore GC . 6 . BH3-ligand regulates access of MCL-1 to its E3 ligase . FEBS Letters . 579 . 25 . 5603–8 . October 2005 . 16213503 . 10.1016/j.febslet.2005.09.028 . vanc . 4981009 . free .
• Adhikary S, Marinoni F, Hock A, Hulleman E, Popov N, Beier R, Bernard S, Quarto M, Capra M, Goettig S, Kogel U, Scheffner M, Helin K, Eilers M . 6 . The ubiquitin ligase HectH9 regulates transcriptional activation by Myc and is essential for tumor cell proliferation . Cell . 123 . 3 . 409–21 . November 2005 . 16269333 . 10.1016/j.cell.2005.08.016 . vanc . 15338406 . free .

External links

• • International HUWE1 Community: www.huwe1.org
• Community Italiana Huwe1https://huwe1italia.wordpress.com/http://www.huwe1italia.wordpress.com
• Louie's HUWE - a US 501c3 nonprofit to support people with HUWE1-related genetic conditions: www.huwe1.org/louieshuwe

Notes and References

1. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . 6 . 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 . 9205841 . 10.1093/dnares/4.2.141 . free .
2. Jackson PK, Eldridge AG, Freed E, Furstenthal L, Hsu JY, Kaiser BK, Reimann JD . The lore of the RINGs: substrate recognition and catalysis by ubiquitin ligases . Trends in Cell Biology . 10 . 10 . 429–39 . October 2000 . 10998601 . 10.1016/S0962-8924(00)01834-1 .
3. Web site: Entrez Gene: HUWE1 HECT, UBA and WWE domain containing 1.
4. Giles AC, Grill B . Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease . Neural Development . 15 . 1 . 6 . April 2020 . 32336296 . 7184716 . 10.1186/s13064-020-00143-9 . review . free .