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FLASH GENE
Symbol RAB7A contributors: mct - updated : 16-06-2018
HGNC name RAB7, member RAS oncogene family
HGNC id 9788
Corresponding disease
CMT2B Charcot-Marie-Tooth disease, axonal, type 2B
Location 3q21.3      Physical location : 128.444.978 - 128.533.641
Synonym name
  • Ras-associated protein RAB7
  • RAB7, member RAS oncogene family
    • Synonym symbol(s) PRO2706, PSN, RAB7, FLJ20819
    DNA
    TYPE functioning gene
    STRUCTURE 88.66 kb     6 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2240 23.4 207 - 2009 PMID: 193926
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Lymphoid/Immunespleen   highly
     tonsils   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    digestivelivervessels  
    Epithelialbarrier/liningepidermisstratum basale 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    Lymphoid/Immunemacrophage
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal AAs of the RAB7A hypervariable C-terminal domain (HVD) are important for late endosomal/lysosomal localization, apparently due to their involvement in interaction with the RAB7A effector RAB-interacting lysosomal protein
    • HOMOLOGY
    interspecies homolog to murine Rab7
    Homologene
    FAMILY
  • small GTPase superfamily
  • Rab family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    text
  • localizes primarily to acidic, pre-degradative and degradative organelles such as late endosomes, lysosomes, multivesicular bodies, phagosomes, autophagosomes and autophagolysosomes
  • STX7 colocalizes with RAB7A on late endosomes
  • an active, GTP-bound state that is membrane-bound and an inactive, GDP-bound state that is cytosolic
    • basic FUNCTION
  • GTPase, likely involved in vesicular transport of proteins from early to late endosomes and lysosomes
  • may be involved in the process of atherogenesis
  • implicated in the regulation of endocytic pathways
  • RAB7A and RILP are key proteins for the biogenesis of lysosomes and phagolysosomes
  • late endosome-/lysosome-associated small GTPase, playing critical roles in the endocytic processes
  • also plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses
  • plays a vital role in the regulation of the trafficking, maturation and fusion of endocytic and autophagic vesicles
  • specifically regulates transport, docking and fusion of late endosomes, autophagosomes and lysosomes and plays an important role in determining the fate of endocytic vesicles by regulating their fusion and subsequent degradation by lysosomes
  • novel role for SFTPA1 in modulating endolysosomal trafficking via RAB7A in primary alveolar macrophages (AM)
  • integral component of the signaling and trafficking scaffolds that assemble on the endosomal membrane and has been studied in the context of EGFR trafficking and down-regulation
  • RAB7A and TSG101 are required for the constitutive recycling of unliganded EGFRs via distinct mechanisms
  • RAB7A, modulates the ER morphology by controlling the ER homeostasis and ER stress
  • functions of RAB18 and RAB7A in lysosomal and autophagic activities may constitute an overlapping mechanism underlying WARBM and CMT pathogenesis in the nervous system
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text vesicular transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
    • protein
  • interacting with OSBPL1A
  • regulates maturation of melanosomal matrix protein SILV
  • FYCO1 binds to both MAP1LC3A, PtdIns(3)P and RAB7A, and contains a domain responsible for microtubule plus end-dependent transport
  • simultaneously binds RILP and ORP1L to form a RILP-RAB7A-ORP1L complex
  • interacting with UVRAG, and RUBICON (GTP-bound RAB7A competes with UVRAG for RUBICON binding)
  • PLEKHF1 is involved in lysosomal sorting and induction of autophagosome formation via RAB7A signaling
  • ability of ATP6AP1 to guide lysosomal intracellular trafficking to the ruffled border, potentially through its interaction with the small GTPase RAB7A
  • PRPH is an intermediate filament protein expressed primarily in peripheral neurons, as a putative RAB7A interacting protein
  • TBC1D15 and TBC1D17 mediate proper autophagic encapsulation of mitochondria by regulating RAB7A activity at the interface between mitochondria and isolation membranes
  • EPG5 is a RAB7A effector that determines the fusion specificity of autophagosomes with late endosomes/lysosomes
  • NUMB and NUMBL interacted with small GTPase RAB7A to transition ERBB2 from early to late endosome for degradation
  • PLEKHM1 simultaneously binds RAB7A and ARL8B, bringing about clustering and fusion of late endosomes and lysosomes
  • inhibition of the GTPase activating protein TBC1D5 can enhance RAB7A activation and lead to a gain of function for retromer
  • NDFIP1 mediates the ubiquitination of NTRK2, resulting in receptor trafficking predominantly on RAB7A containing late endosomes, highlighting a pathway for NTRK2 degradation at the lysosome
  • AAMDC can interact with the RabGTPase-activating protein RABGAP1L, and AAMDC, RABGAP1L, and RAB7A colocalize in endolysosomes
  • WDR91 competes with the VPS41 subunit of the HOPS complex, another RAB7A effector, for binding to RAB7A, thereby facilitating RAB7A-dependent lysosome fusion in a controlled manner
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS