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FLASH GENE
Symbol RREB1 contributors: mct - updated : 12-10-2015
HGNC name ras responsive element binding protein 1
HGNC id 10449
Location 6p24.3      Physical location : 7.107.829 - 7.252.212
Synonym name
  • DNA-binding protein
  • finger protein in nuclear bodies
  • zinc finger motif enhancer binding protein 1
  • hindsight homolog
  • Synonym symbol(s) FINB, LZ321, RRE1, HNT, Zep-1, RREB-1,
    DNA
    TYPE functioning gene
    STRUCTURE 144.38 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status provisional
    Map pter - D6S1574 - D6S1640 ,RREB1 - D6S1547 - D6S309 - cen
    Authors Thiagalingam (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 8112 - 1742 - 2011 2170342
  • RREB1alpha
  • 12 - 7947 - 1687 - 2011 2170342
  • isoform 2
  • 12 - 8532 - 1687 - 2011 2170342
  • RREB1beta
  • preferentially increased in some tumors, relative to RREB1alpha
  • 12 - 7935 - 1476 - 2011 2170342
  • RReB1 gamma
  • - - - - 1421 - 2011 2170342
    - - - - 314 - 2011 2170342
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal zinc finger domain bound to the GGATGG sequence
  • between 13 and 15 zinc finger domains, depending on alternative splicing
  • HOMOLOGY
    interspecies homolog to drosophila Hnt
    homolog to murine Rreb1 (80.5pc)
    homolog to rattus Rreb1 (81.6pc)
    Homologene
    FAMILY
  • krueppel C2H2-type zinc-finger protein family, RAL family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • involved in the differentiation response to Ras in human medullary thyroid carcinomas (Thiagalingam 1996)
  • may be involved in ras/raf-mediated cell differentiation
  • may be essential to reduce cell-cell adhesion when epithelial cells within an interconnected group undergo changes in cell shape (Melani 2008)
  • participates in modulating TP53 transcription in response to DNA damage (Liu 2009)
  • is a functional homolog of drosophila Hnt at the level of DNA binding, transcriptional regulation and developmental control
  • large, complex gene which codes a multidomain zinc finger binding protein and transcription factor
  • JMJD1C and RREB1, are involved in histone modification
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • binding specifically to the RAS responsive element of calcitonin
  • binding to TP53 promoter and transactivating TP53 expression (Liu 2009)
  • RNA
    small molecule
    protein
  • interacting with AGT (a sequence-specific transcriptional repressor of the AGT gene)
  • RALA transcriptional target (Oxford 2007)
  • RREB1 is identified as the positive regulator of SLC39A3 expression
  • TWIST1-binding sequences associated with CHST11, LITAF, ROR2, and SPATA5 also bound the potential TWIST1 cofactor RREB1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to type 2 diabetes associated end-stage kidney disease
    Variant & Polymorphism other
  • two variants rs9379084 and rs41302867 associated with type 2 diabetes associated end-stage kidney disease
  • heterozygous variants in RREB1, when combined with the 22q11.2 deletion, could affect embryonic development or heart formation in humans
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS