E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions
Autor: | Jérôme Torrisani, Marlène Dufresne, Dorian Larrieu, Claire Vargas, Manon Brunet |
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Rok vydání: | 2020 |
Předmět: |
Autism Spectrum Disorder
Ubiquitin-Protein Ligases Cellular differentiation Review Biology medicine.disease_cause Catalysis Chromatin remodeling lcsh:Chemistry Inorganic Chemistry Neoplasms cancers medicine Animals Humans Obesity Interactor TRIP12 Physical and Theoretical Chemistry lcsh:QH301-705.5 Molecular Biology Gene Growth Disorders Spectroscopy Mutation Thyroid hormone receptor Organic Chemistry Facies General Medicine Embryonic stem cell Computer Science Applications Ubiquitin ligase Cell biology lcsh:Biology (General) lcsh:QD1-999 E3 ubiquitin ligase intellectual disorders Mental Retardation X-Linked biology.protein Hydrocephalus |
Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 21, Iss 8515, p 8515 (2020) |
ISSN: | 1422-0067 |
DOI: | 10.3390/ijms21228515 |
Popis: | The Thyroid hormone Receptor Interacting Protein 12 (TRIP12) protein belongs to the 28-member Homologous to the E6-AP C-Terminus (HECT) E3 ubiquitin ligase family. First described as an interactor of the thyroid hormone receptor, TRIP12’s biological importance was revealed by the embryonic lethality of a murine model bearing an inactivating mutation in the TRIP12 gene. Further studies showed the participation of TRIP12 in the regulation of major biological processes such as cell cycle progression, DNA damage repair, chromatin remodeling, and cell differentiation by an ubiquitination-mediated degradation of key protein substrates. Moreover, alterations of TRIP12 expression have been reported in cancers that can serve as predictive markers of therapeutic response. The TRIP12 gene is also referenced as a causative gene associated to intellectual disorders such as Clark–Baraitser syndrome and is clearly implicated in Autism Spectrum Disorder. The aim of the review is to provide an exhaustive and integrated overview of the different aspects of TRIP12 ranging from its regulation, molecular functions and physio-pathological implications. |
Databáze: | OpenAIRE |
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