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FLASH GENE
Symbol EIF2B1 contributors: mct/npt - updated : 14-06-2010
HGNC name eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
HGNC id 3257
Corresponding disease
VWM3 leukoencephalopathy with vanishing white matter, type 3
Location 12q24.31      Physical location : 124.105.570 - 124.118.323
Synonym name eIF-2B GDP-GTP exchange factor subunit alpha
Synonym symbol(s) EIF-2B, EIF-2Balpha, EIF2B, EIF2BA, MGC117409, MGC125869, MGC125868
DNA
TYPE functioning gene
STRUCTURE 12.68 kb     9 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
9 - 1886 - 305 - Yang (1996)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 mouth   highly
 stomach   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , pentamer
HOMOLOGY
Homologene
FAMILY
  • EIF2B alpha/beta/delta subunits family
  • CATEGORY RNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the exchange of eukaryotic initiation factor 2-bound GDP for GTP
  • playing an essential role for protein synthesis and regulating translation in response to cellular stresses
  • plays a key role in controlling the initiation of mRNA translation (Wang 2008)
  • CELLULAR PROCESS protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complex of five different subunits, alpha, beta, gamma, delta and epsilon
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CREBBP, in embryonic orofacial tissue
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VWM3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS