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FLASH GENE
Symbol RAB38 contributors: mct - updated : 19-04-2017
HGNC name RAB38, member RAS oncogene family
HGNC id 9776
Location 11q14.2      Physical location : 87.846.430 - 87.908.599
Synonym symbol(s) NY-MEL-1, rrGTPbp
DNA
TYPE functioning gene
STRUCTURE 62.22 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1478 - 211 - 2005 15843158
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrineneuroendocrinepituitary   
Reproductivefemale systembreastmammary gland  
Respiratorylung   highly Homo sapiens
Skin/Tegumentskin    
Urinarybladder    
 kidney    
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryepithelial cell Homo sapiens
Skin/Tegumentmelanocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated LipoP , Other
HOMOLOGY
interspecies homolog to Drosophila Rab-RP1
intraspecies paralog to RAB32
Homologene
FAMILY
  • small GTPase RAS superfamily, RAB subfamily
  • CATEGORY antigen , protooncogene , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • involved in melanosomal transport and docking
  • involved in the proper sorting of TYRP1
  • regulating intracellular vesicle trafficking, and early vesicle transport relating to the endoplasmic reticulum
  • might be required for the normal trafficking of TYRP1 from the trans-Golgi network (TGN) to the maturing melanosome
  • with RAB32 may play a redundant role in regulating transport of tyrosinase from the TGN to melanosomes
  • may play a role in the development of dense granules in the megakaryocytes and platelets
  • RAB27A, RAB38 and RAB32 function in melanosome maturation or trafficking in melanocyte
  • potentially playing an indispensible role in maintaining lamellar body morphology and surfactant homeostasis in alveolar type II (ATII) pneumocytes
  • RAB38 and RAB32 are the specific factors that direct the ubiquitous machinery to mediate transport from early endosomes to maturing lysosome-related organelles
  • RAB38 and RAB32 operate together with the ubiquitous transport machinery in pathways from early endosomal domains toward maturing melanosomes
  • regulates intracellular vesicle trafficking
  • RAB32 and its closest homologue RAB38 are known to organize the trans-Golgi network and transport of key enzymes in melanogenesis
  • dramatic depletion of VAMP7-containing recycling tubules in cells lacking HPS4 suggests that RAB38 and/or RAB32 play an important role in recruiting effectors for cargo selection, tubule formation, and/or tubule release
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • melanosomal transport
  • protein transport
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    GTP
    protein
  • ANKRD27-interacting protein (GTP-bound form of RAB38 actively recruits ANKRD27 protein to its subcellular compartment)
  • ANKRD27 functions as the RAB32/38 effector that controls trafficking of TYRP1 in melanocytes
  • ANKRD27 specifically binds two small GTPases, RAB32 and RAB38, which redundantly regulate the trafficking of melanogenic enzymes in mammalian epidermal melanocytes
  • RAB38 and its close homolog RAB32 bind to MYO5C but not to MYO5A or MYO5B
  • RAB32 and RAB38, directly interact with LRRK2
  • SGSM2 functions as a GTPase-activating protein for RAB32/38 and regulates melanogenic enzyme trafficking in melanocytes
  • in addition to VAMP7, ANKRD27 binds to RAB32/38
  • HPS4 regulates recycling of VAMP7 from melanosomes, most likely by recruiting RAB38 and consequently ANKRD27 to initiate and/or complete tubule formation
  • HPS4 is required for activation of RAB32/RAB38 GTPases in melanogenesis, but its RAB9 activity is dispensable for melanogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker is an important prognostic biomarker in gliomas
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    potential therapeutic target in gliomas
    ANIMAL & CELL MODELS
  • Rab38 cht/cht) mice show ocular characteristics reminiscent of human oculocutaneous albinism, as well as iris and RPE thinning
  • loss of functional Rab38 in the "chocolate" (cht) mouse causes dramatically reduced numbers of melanosomes in adult RPE, in contrast to the mild phenotype previously shown in skin melanocytes