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Gene Review

HACE1  -  HECT domain and ankyrin repeat containing...

Homo sapiens

Synonyms: E3 ubiquitin-protein ligase HACE1, HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1, KIAA1320
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Disease relevance of HACE1

  • Moreover, HACE1 expression was virtually undetectable in the SK-NEP-1 Wilms' tumor cell line and in four of five additional primary Wilms' tumor cases compared with patient-matched normal kidney [1].
  • BACKGROUND: The objective of this study was to determine the prognostic variables that influence response and survival in patients with metastatic neuroendocrine tumors who are treated with hepatic arterial embolization (HAE) or chemoembolization (HACE) [2].
  • Brain cell swelling (cytotoxic edema) likely has a role only in the later stages of HACE and not in AMS [3].
  • Therapy for AMS and HACE is directed to reducing brain volume and stopping the BBB leak (i.e., oxygenation, diuretics, and steroids) before secondary ischemia develops [3].
  • This study is designed to examine trekkers' knowledge of altitude sickness in an attempt to see whether knowledge can protect against acute mountain sickness (AMS) and high altitude pulmonary or cerebral oedema (HAPE/HACE) [4].

High impact information on HACE1

  • We therefore designated this gene HACE1 (HECT domain and Ankyrin repeat Containing E3 ubiquitin-protein ligase 1) [1].
  • We found no evidence of HACE1 mutations or deletions, but hypermethylation of two upstream CpG islands correlates with low HACE1 expression in tumor samples [1].
  • We show that Hace1 protein possesses intrinsic ubiquitin ligase activity, utilizes UbcH7 as a candidate partner E2 enzyme and localizes predominantly to the endoplasmic reticulum [1].
  • Interleukin-4 (IL-4) is a mitogen for both microvascular (human adrenal capillary, HACE) and large vessel (human umbilical vein, HUVEC) endothelial cells [5].
  • Comparison of growth promotion by IL-4 to that by the potent endothelial mitogen fibroblast growth factor (FGF) showed the activity of IL-4 on HACE cells to be strong (50% of that with FGF) but on HUVEC's weak (12% of that with FGF) [5].

Biological context of HACE1

  • The symptoms of AMS and HACE represent a continuum of disease that appears to be related to alterations in cerebrovascular autoregulation [6].

Analytical, diagnostic and therapeutic context of HACE1


  1. Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney. Anglesio, M.S., Evdokimova, V., Melnyk, N., Zhang, L., Fernandez, C.V., Grundy, P.E., Leach, S., Marra, M.A., Brooks-Wilson, A.R., Penninger, J., Sorensen, P.H. Hum. Mol. Genet. (2004) [Pubmed]
  2. Hepatic arterial embolization and chemoembolization for the treatment of patients with metastatic neuroendocrine tumors: variables affecting response rates and survival. Gupta, S., Johnson, M.M., Murthy, R., Ahrar, K., Wallace, M.J., Madoff, D.C., McRae, S.E., Hicks, M.E., Rao, S., Vauthey, J.N., Ajani, J.A., Yao, J.C. Cancer (2005) [Pubmed]
  3. The cerebral etiology of high-altitude cerebral edema and acute mountain sickness. Hackett, P.H. Wilderness & environmental medicine. (1999) [Pubmed]
  4. Can knowledge protect against acute mountain sickness? Vardy, J., Vardy, J., Judge, K. Journal of public health (Oxford, England) (2005) [Pubmed]
  5. Interleukin-4 is a potent mitogen for capillary endothelium. Toi, M., Harris, A.L., Bicknell, R. Biochem. Biophys. Res. Commun. (1991) [Pubmed]
  6. Altitude-related illness. Foulke, G.E. The American journal of emergency medicine. (1985) [Pubmed]
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