RAB11B est un gène codé par le symbole RAB11B. Il est également connu sous le nom de: Ras-related protein Rab-11B; GTP-binding protein YPT3; YPT3. RAB11B a une masse de 24.49kDa, une longueur d'acide aminé de 218, et est impliqué dans Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
Nous proposons 5 des anticorps contre RAB11B, élevé dans Lapin, Chèvre et Rat, qui sont appropriés pour le WB, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris, Rat, Singe et Canin.
Informations sur les Gènes et les Protéines
Résumé UniProt
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The small Rab GTPase RAB11B plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epithelial sodium channel/ENaC, potassium voltage-gated channel, and voltage-dependent L-type calcium channel. May also regulate constitutive and regulated secretion, like insulin granule exocytosis. Required for melanosome transport and release from melanocytes. Also regulates V-ATPase intracellular transport in response to extracellular acidosis.
Résumé Entrez
The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994
Implication dans la maladie
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter: An autosomal dominant neurodevelopmental disorder apparent in infancy and characterized by severe intellectual disability with absent speech, epilepsy, and hypotonia. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly can be present. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem.
Similitudes de séquence
Belongs to the small GTPase superfamily. Rab family.
Modification post-traductionnelle
Citrullinated by PADI4.
Localisation cellulaire
Recycling endosome membrane. Cytoplasmic vesicle > Secretory vesicle > Synaptic vesicle membrane. Cytoplasmic vesicle > Phagosome membrane.
Recruited to phagosomes containing S.aureus.
