RAB5A
RAB5A (RAB5A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB5A include Motor Neuron Disease and Tuberous Sclerosis 2. Among its related pathways are Delta508-CFTR traffic / Sorting endosome formation in CF and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB5C.
Full Name
RAB5A, member RAS oncogene family
Function
Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Active GTP-bound form is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes (PubMed:10818110, PubMed:14617813, PubMed:16410077, PubMed:15378032).
Contributes to the regulation of filopodia extension (PubMed:14978216).
Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413).
Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity).
Biological Process
Biological Process amyloid-beta clearance by transcytosisManual Assertion Based On ExperimentIGI:ARUK-UCL
Biological Process early endosome to late endosome transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process endocytosisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process intracellular protein transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process modulation by host of viral processManual Assertion Based On ExperimentIMP:ParkinsonsUK-UCL
Biological Process phagocytosisIEA:UniProtKB-KW
Biological Process positive regulation of exocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process receptor internalization involved in canonical Wnt signaling pathwayManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of autophagosome assemblyManual Assertion Based On ExperimentTAS:ParkinsonsUK-UCL
Biological Process regulation of endocytosisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of endosome sizeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of filopodium assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of long-term neuronal synaptic plasticityManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of synaptic vesicle exocytosisManual Assertion Based On ExperimentIMP:ParkinsonsUK-UCL
Biological Process synaptic vesicle recyclingManual Assertion Based On ExperimentIDA:ParkinsonsUK-UCL
Cellular Location
Cell membrane
Early endosome membrane
Melanosome
Cytoplasmic vesicle
Cell projection, ruffle
Membrane
Cytoplasm, cytosol
Cytoplasmic vesicle, phagosome membrane
Endosome membrane
Enriched in stage I melanosomes (PubMed:17081065).
Alternates between membrane-bound and cytosolic forms (Probable).
PTM
Phosphorylation of Ser-84 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including RAB GDP dissociation inhibitors GDI1 and GDI2.
(Microbial infection) Glycosylated on arginine residues by S.typhimurium protein Ssek3.