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FLASH GENE
Symbol RAB29 contributors: mct/npt - updated : 29-03-2017
HGNC name RAB29, member RAS oncogene family
HGNC id 9789
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • GTP binding domains
  • a hypervariable C terminal domain
  • the pattern of C terminal two consecutive cysteines of the RAB family, harboring a structural element which is essential for the nucleotide exchange of the protein
  • HOMOLOGY
    interspecies homolog to rab13
    Homologene
    FAMILY
  • small GTPase superfamily
  • Rab family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text
  • is associated with the trans-Golgi network (TGN), and is essential for maintaining the integrity of the TGN
  • basic FUNCTION
  • GTPase, involved in the regulation of exocytotic and endocytotic pathways
  • RAB small monomeric GTPase
  • regulate phagocytosis and traffic from the Golgi to the lysosome
  • is likely essential for the integrity of the TGN and participates in the retrograde trafficking of mannose-6-phosphate receptor
  • function for RAB29 as a regulator of receptor recycling and this GTPase is a shared participant in immune synapse (IS) and primary cilium assembly
  • LRRK2 and RAB29 act coordinately in an ordered genetic pathway to regulate axonal elongation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson disease risk
  • RAB29 is essential for the integrity of the TGN and participates in the retrograde trafficking of M6PR
  • interaction of C9ORF72 with the RAB7L1 GTPase to regulate vesicle trafficking
  • small Rab GTPase involved in vesicular trafficking
  • stress-responsive machinery composed of RAB29, LRRK2, phosphorylated RAB8/RAB10, and their downstream effectors implicated in the maintenance of lysosomal homeostasis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Parkinson disease (PD)
    Variant & Polymorphism SNP association between rs823144 SNP located in the promoter region of the RAB7L1 gene and PD
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS