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FLASH GENE
Symbol RIN3 contributors: mct - updated : 04-04-2012
HGNC name Ras and Rab interactor 3
HGNC id 18751
Location 14q32.13      Physical location : 92.980.124 - 93.155.332
Synonym symbol(s) FLJ22439
DNA
TYPE functioning gene
STRUCTURE 175.21 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 3869 - 985 - 2002 11733506
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
not specificmast cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one SH2 domain, and and proline-rich domains in the N-terminal region
  • RH, VPS9, and RA domains in the C-terminal region
    • HOMOLOGY
    Homologene
    FAMILY RIN (Ras interaction/interference) family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • characterized as the stimulator and stabilizer for GTP-Rab5
  • may function as a guanine nucleotide exchange (GEF), by exchanging bound GDP for free GTP
  • plays an important role in the transport pathway from plasma membrane to early endosomes
  • biochemically characterized as the stimulator and stabilizer for GTP-RAB5A plays an important role in the transport pathway from plasma membrane to early endosomes
  • specifically induced tubulovesicular structures, suggesting that each RAB31-GEF activates RAB31 under different spatio-temporal conditions
  • potentially acts physiologically as a GEF to regulate RAB31-dependent transport between the TGN and early endosomes
  • role for RIN3 in coordinating the early steps of KIT endocytosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RIN1, RIN2, RIN3 serve as guanine nucleotide exchange factors for RAB5A
  • specifically acts as a GEF for RAB31
  • functioned as an inhibitor of mast cell migration toward KITLG
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Paget disease of bone (PDB)
    Variant & Polymorphism other
  • rs10498635 strongly associated with PDB
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS