RAB11B

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 [PubMed 7811277]).[supplied by OMIM, Nov 2010]

Full Name

RAB11B,member RAS oncogene family

Function

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.

Biological Process

Biological Process amyloid-beta clearance by transcytosisManual Assertion Based On ExperimentIGI:ARUK-UCL
Biological Process cellular response to acidic pHManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process constitutive secretory pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process endocytic recyclingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process establishment of protein localization to membraneManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process exocytosisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process insulin secretion involved in cellular response to glucose stimulusISS:UniProtKB
Biological Process melanosome transportISS:UniProtKB
Biological Process receptor recyclingISS:UniProtKB
Biological Process regulated exocytosisISS:UniProtKB
Biological Process regulation of anion transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of endocytic recyclingISS:UniProtKB
Biological Process regulation of protein localization to cell surfaceManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process transferrin transportISS:UniProtKB
Biological Process vesicle-mediated transportManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Recycling endosome membrane
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane
Cytoplasmic vesicle, phagosome membrane
Recruited to phagosomes containing S.aureus.

Involvement in disease

Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW):
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.

PTM

Citrullinated by PADI4.
(Microbial infection) Glycosylated on arginine residues by S.typhimurium protein Ssek3.