RNF13 est un gène codé par le symbole RNF13. Il est également connu sous le nom de: E3 ubiquitin-protein ligase RING finger protein 13; RING-type E3 ubiquitin transferase RZF. RNF13 a une masse de 42.81kDa, une longueur d'acide aminé de 381, et est impliqué dans Epileptic encephalopathy, early infantile, 73.
Nous proposons 2 des anticorps contre RNF13, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain et Souris.
Informations sur les Gènes et les Protéines
Résumé UniProt
E3 ubiquitin-protein ligase that may play a role in controlling cell proliferation. Involved in apoptosis regulation. Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371).
Résumé Entrez
The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene.
Spécificité tissulaire
Widely expressed (at protein level). In normal pancreas, expressed in islets, but not in ducts, nor in acini (at protein level).
Implication dans la maladie
Epileptic encephalopathy, early infantile, 73: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE73 is an autosomal dominant form with onset at birth.
Modification post-traductionnelle
Auto-ubiquitinated.
Localisation cellulaire
Endoplasmic reticulum membrane. Golgi apparatus membrane. Late endosome membrane. Lysosome membrane. Nucleus inner membrane.
Under certain conditions, relocalizes to recycling endosomes and to the inner nuclear membrane.
