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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
    Physical map
    LOC121270 12q13.12 similar to olfactory receptor MOR122-1 FLJ20436 12q13.12 hypothetical protein FLJ20436 CCNT1 12q13.1 cyclin T1 LOC255411 12q13.12 hypothetical LOC255411 ADCY6 12q12-q13 adenylate cyclase 6 LOC390314 12 similar to Protein C20orf27 CACNB3 12q13 calcium channel, voltage-dependent, beta 3 subunit DDX23 12q13.12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 RHO6 12q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 NYD-SP28 12q13.12 NYD-SP28 protein FKBP11 12q13.2 FK506 binding protein 11, 19 kDa ARF3 12q13.1 ADP-ribosylation factor 3 WNT10B 12q13.1 wingless-type MMTV integration site family, member 10B WNT1 12q13 wingless-type MMTV integration site family, member 1 DDN 12q13.12 dendrin PRKAG1 12q12-q14 protein kinase, AMP-activated, gamma 1 non-catalytic subunit MLL2 12q12-q13 myeloid/lymphoid or mixed-lineage leukemia 2 RHEBL1 12q13.12 Ras homolog enriched in brain like 1 DHH 12q12-q13.1 desert hedgehog homolog (Drosophila) LIMR 12q13.12 lipocalin-interacting membrane receptor K-ALPHA-1 12q12-q14.3 lipocalin-interacting membrane receptor TUBA3 12q12-12q14.3 lipocalin-interacting membrane receptor TUBA6 12q12-q14 tubulin alpha 6 PRPH 12q12-q13 peripherin TROAP 12p11.1 trophinin associated protein (tastin) LOC338761 12q13.12 similar to C1q-related factor precursor FLJ13236 12q13.12 hypothetical protein FLJ13236 SPATS2 12q13.12 spermatogenesis associated, serine-rich 2
    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