HACE1 explained
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 is a protein that in humans is encoded by the HACE1 gene.[1]
Function
This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016].
Further reading
- Anglesio MS, Evdokimova V, Melnyk N, Zhang L, Fernandez CV, Grundy PE, Leach S, Marra MA, Brooks-Wilson AR, Penninger J, Sorensen PH . Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney . Hum. Mol. Genet. . 13 . 18 . 2061–74 . September 2004 . 15254018 . 10.1093/hmg/ddh215 . free .
- Zhang L, Anglesio MS, O'Sullivan M, Zhang F, Yang G, Sarao R, Mai PN, Cronin S, Hara H, Melnyk N, Li L, Wada T, Liu PP, Farrar J, Arceci RJ, Sorensen PH, Penninger JM . The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers . Nat. Med. . 13 . 9 . 1060–9 . September 2007 . 17694067 . 10.1038/nm1621 . 15289140 .
- Hibi K, Sakata M, Sakuraba K, Shirahata A, Goto T, Mizukami H, Saito M, Ishibashi K, Kigawa G, Nemoto H, Sanada Y . Aberrant methylation of the HACE1 gene is frequently detected in advanced colorectal cancer . Anticancer Res. . 28 . 3A . 1581–4 . 2008 . 18630515 .
- Sakata M, Kitamura YH, Sakuraba K, Goto T, Mizukami H, Saito M, Ishibashi K, Kigawa G, Nemoto H, Sanada Y, Hibi K . Methylation of HACE1 in gastric carcinoma . Anticancer Res. . 29 . 6 . 2231–3 . June 2009 . 19528486 .
- Huang Y, de Reyniès A, de Leval L, Ghazi B, Martin-Garcia N, Travert M, Bosq J, Brière J, Petit B, Thomas E, Coppo P, Marafioti T, Emile JF, Delfau-Larue MH, Schmitt C, Gaulard P . Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type . Blood . 115 . 6 . 1226–37 . February 2010 . 19965620 . 2826234 . 10.1182/blood-2009-05-221275 .
- Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF . The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature . BMC Med. Genet. . 11 . 96 . June 2010 . 20546612 . 2894790 . 10.1186/1471-2350-11-96 . free .
- Einarsdottir E, Bevova MR, Zhernakova A, Monsuur A, Koskinen LL, van't Slot R, Mulder C, Mearin ML, Korponay-Szabo IR, Kaukinen K, Kurppa K, Kere J, Mäki M, Wijmenga C, Saavalainen P . Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations . Eur. J. Hum. Genet. . 19 . 6 . 682–6 . June 2011 . 21326284 . 3110053 . 10.1038/ejhg.2011.2 .
- Torrino S, Visvikis O, Doye A, Boyer L, Stefani C, Munro P, Bertoglio J, Gacon G, Mettouchi A, Lemichez E . The E3 ubiquitin-ligase HACE1 catalyzes the ubiquitylation of active Rac1 . Dev. Cell . 21 . 5 . 959–65 . November 2011 . 22036506 . 10.1016/j.devcel.2011.08.015 . free .
- Castillo-Lluva S, Tan CT, Daugaard M, Sorensen PH, Malliri A . The tumour suppressor HACE1 controls cell migration by regulating Rac1 degradation . Oncogene . 32 . 13 . 1735–42 . March 2013 . 22614015 . 10.1038/onc.2012.189 . free .
Notes and References
- Web site: Entrez Gene: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1. 2018-07-11.
