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FLASH GENE
Symbol MXI1 contributors: mct/npt/pgu - updated : 27-11-2013
HGNC name MAX interactor 1
HGNC id 7534
Location 10q25.2      Physical location : 111.967.362 - 112.047.121
Synonym name
  • MAX dimerization protein 2
  • Max-related transcription factor
  • MAX interacting protein 1
    • Synonym symbol(s) MAXD2, MAD2, MXD2, MXI, bHLHc11, MGC43220
    DNA
    TYPE functioning gene
    STRUCTURE 79.61 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • HIF-binding and transactivation were detected within MXI1 gene regulatory sequences in the vicinity of the MXI1-0 promoter
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3047 - 182 - 2007 17577784
    lacks function of potent transcriptional repressor and growth suppressor
    6 - 3272 - 228 - 2007 17577784
  • SRbeta
  • exhibits a repressive effect on the MYC promoter in transient expression assays
  • can interact with Sin3/histone deacetylase and function as a potent transcriptional repressor and growth suppressor
    • 6 - 3470 - - - 2007 17577784
  • SRalpha
  • activates the MYC promoter
  • glyceraldehyde-3-phosphate dehydrogenase interacts with MXI1-SRalpha and enhances its ability to activate the Myc promoter
  • induction by FOXO3 was specific to this isoform and was mediated by three highly conserved FOXO binding sites within the first intron of the gene (Delpuech 2007)
    • - - - - - . in hematopoietic cells . dominantly expressed isoform in normal bone marrow and hematological cell lines 2005 15809730
  • lacks exon 3, which encodes the basic region
  • binds the Max protein and the PHA2 regions of mSin3 proteins
  • may play an important role in the c-Myc family protein network acting as a dominant negative isoform of MXI1
    • - - - - - in hematopoietic cells 2005 15809730
    lacks the N-terminal mSin3 binding region and the DNA binding region
    - - - - - in hematopoietic cells 2005 15809730
    lacks the N-terminal mSin3 binding region
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   lowly
    Nervousbrain   highly
    Respiratorylung    
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Muscularstriatumskeletal  
    cell lineage dominantly expressed isoform in normal bone marrow and hematological cell lines
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two highly conserved domains, Sin3-interacting domain (SID)
  • basic helix-loop-helix leucine zipper domain (bHLHzip), which are essential for the function during molecular switching from proliferation to differentiation
    • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • MYC family (see TSG10A)
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • Max interactor 1, key component of the mitotic checkpoint, induced during terminal differentiation
  • antagonizing MYC dependent activation and repressing the c-Myc promoter P2
  • binds a specific DNA sequence (E-box) and suppresses transcription of target genes
  • putative tumor suppressor gene involved in conventional melanoma progression
  • encodes a protein designated MAD2, which is a basic helix-loop-helix leucine zipper (bHLHzip) transcription factor that belongs to MYC/MAX/MAD network
  • functions in terminal differentiation, inhibition of cell cycle progression and tumor suppression
  • inactivating MXI1 induces ciliary defects in polycystic kidney
    • CELLULAR PROCESS cell cycle, checkpoint
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizes with the Max protein
  • belongs to the Myc/Max/Mad network of proteins that have been implicated in the control of multiple aspects of cellular behavior
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with Max to bind Myc-Max recognition E box sites through interaction between the N terminus and SIN3 corepressor
  • is an important downstream target of HIF that contributes to VHL-deficient renal cancer tumorigenesis (PMID;
  • inactivation of MXI1 has a positive effect on cell proliferation by down-regulating IGFBP3
  • antagonist of the MYC oncogene
  • IGFBP3 is an important mediator of the MXI1-related proliferation mechanism
  • Myc protein, which is antagonized by MXI1, causes renal cystogenesis
  • its overexpression plays a role in the regulation of tubulogenesis by regulating some genes participating in renal epithelial branching tubulogenesis such as matrix metalloproteinase 9 (MMP9), integrins, fibronectin, and CDH1
  • MXI1 regulates IFT20 promoter activity via ETS1 binding to the IFT20 promoter
    • cell & other
    REGULATION
    induced by FOXO3 activation (induced a switch in promoter occupancy from Myc to MXI1 on the E-box containing promoter regions of two Myc target genes, APEX and FOXM1)
    Other direct regulation by FOXO3 (imply an additional mechanism through which the PI3-kinase/Akt/FOXO pathway that can modulate Myc function)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    or deleted in prostate carcinoma
      somatic mutation      
    in acute leukaemia
    constitutional     --over  
    represses renal epithelial cell tubulogenesis by suppressing MMP9 gene expression by functioning in activations of ERK and JNK
    constitutional     --over  
    resulted in a decrease in the PKD1, PKD2 and MYC mRNA relating to the pathway of cyst formation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • lack of Mxi1 gene expression leads to cyst formation in Mxi1-deficient mice