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FLASH GENE
Symbol RHEBL1 contributors: mct - updated : 19-12-2015
HGNC name Ras homolog enriched in brain like 1
HGNC id 21166
Location 12q13.12      Physical location : 49.458.467 - 49.463.775
Synonym name
  • GTPase RHEBL1
  • Ras homolog enriched in brain like 1 c
  • Synonym symbol(s) MGC34869, FLJ25797, RHEB2, RHEBL1c
    DNA
    TYPE functioning gene
    STRUCTURE 5.31 kb     8 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
    8 - 1192 20.69 183 - 2005 16328882
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Lymphoid/Immunespleen   highly Homo sapiens
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemuterus  highly Homo sapiens
     female systemplacenta  highly Homo sapiens
     male systemtestis  highly Homo sapiens
    Respiratorylung   highly Homo sapiens
    Urinarybladder   highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Rhebl1
    homolog to rattus Rhebl1
    intraspecies paralog to RHEB
    Homologene
    FAMILY HEB family
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • RHEB and RHEBL1 localize primarily to the endoplasmic reticulum and Golgi apparatus
  • basic FUNCTION
  • mediating signal transduction
  • positive regulator of NF-kappa B-mediated gene transcription
  • cytoplasm protein but not evenly distributed in cytoplasm
  • when overexpressed in the cells
  • possible role of RHEB and RHEBL1 in regulating de novo pyrimidine nucleotide synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    GTP binding
    protein
  • may be impacting the MTOR pathway in a different manner than RHEB
  • RHEB and RHEBL1 are unique members of the Ras superfamily and play central roles in regulating protein synthesis and cell growth by activating MTOR
  • RHEB proteins binds to CAD protein (RHEB and RHEBL1 binds CAD in a GTP- and effector domain-dependent manner)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    DHH-RHEBL1 fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3-GLIS2-positive childhood AML
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS