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FLASH GENE
Symbol RASGEF1B contributors: mct - updated : 30-08-2011
HGNC name RasGEF domain family, member 1B
HGNC id 24881
Corresponding disease
DEL4Q21 chromosome 4q21 microdeletion syndrome
Location 4q21.3      Physical location : 82.348.218 - 82.393.061
Synonym symbol(s) GPIG4, FLJ31695, MGC46251
DNA
TYPE functioning gene
STRUCTURE 44.84 kb     14 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2269 - 473 - 2009 19645719
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach    
Lymphoid/Immunelymph node    
Nervousbrainbasal nucleicaudate nucleus  
Reproductivefemale systemovary   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticmonocyte
cell lineage
cell lines
fluid/secretion blood
at STAGE
physiological period embryo
Text umbilical cord
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one DH(dbl-homology) domain
  • a IQ domain
  • one N-terminal RAS-GEF domain
  • two PH domains
  • C-terminal CDC25-Ras exchange motif domain
  • HOMOLOGY
    Homologene
    FAMILY RasGEF1 family of proteins
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • promoting the exchange of RAS-bound GDP by GTP
  • RASGEF1A and RASGEF1B function as very specific exchange factors for RAP2A, a member of the Rap subfamily of Ras-like G-proteins
  • guanine nucleotide exchange factor that discriminate between Rap GTP-binding proteins and mediate RAP2A-specific nucleotide exchange
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the binding domain site of Ras, a critical region for interacting with GEFs involved in the activation of Ras-Raf-MEK-ERK pathway(
  • closely associated with Ras in live cells and to trigger Ras activity (
  • cell & other
    REGULATION
    induced by expression by macrophages is mostly induced by TLR3 and TLR4 (lipopolysaccharyde) through the MYD88-independent pathway (
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL4Q21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS