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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
Location 1q32.1      Physical location : -
Synonym name
  • Rab-7-like protein 1
  • RAB7, member RAS oncogene family-like 1
  • Synonym symbol(s) RB7L, RAB7L, DKFZp686P1051, RAB7L1
    DNA
    TYPE functioning gene
    STRUCTURE 7.50 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3438 - 179 - 2015 26021297
    5 - 3070 - 131 - 2015 26021297
    6 - 3223 23 203 - 2015 26021297
    6 - 3324 23 203 - 2015 26021297
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Lymphoid/Immunetonsils   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
  • 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