RAB11B ist ein Gen, das durch das Symbol RAB11B kodiert wird. Es ist auch bekannt als: Ras-related protein Rab-11B; GTP-binding protein YPT3; YPT3. RAB11B hat eine Masse von 24.49kDa, eine Aminosäurelänge von 218, und ist an Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter beteiligt.
Wir bieten 5 antikörper gegen RAB11B, aufgewachsen in Kaninchen, Ziege und Ratte, welche geeignet sind für WB, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte, Affe und Hund.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the small GTPase superfamily. Rab family.
Posttranslationale Modifikation
Citrullinated by PADI4.
Zellort
Recycling endosome membrane. Cytoplasmic vesicle > Secretory vesicle > Synaptic vesicle membrane. Cytoplasmic vesicle > Phagosome membrane.
Recruited to phagosomes containing S.aureus.
