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FLASH GENE
Symbol RUNX1T1 contributors: mct/npt/pgu - updated : 08-01-2016
HGNC name runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
HGNC id 1535
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineneuroendocrinepituitary  highly
 pancreas    
Nervousbrain   predominantly Homo sapiens
Respiratorylung    
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text
  • placenta
  • abundant expression in the developing brain
  • expressed in distinct patterns in the developing nervous system (Pubmed 20214951)
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a MYND type zinc finger domain interacting with NCOR1 and SIN3A
  • three proline/serine/threonine (PST) rich domains
  • a alpha helical coiled-coil structure
  • four NERVY homology domain (NHR1, NHR2, NHR3, NHR4)
  • oligomerization domain playing a major role in targeting RUNX1T1 to the DES region and independently potentiates the TAFH domain-mediated AD1 interaction
    • HOMOLOGY
    interspecies homolog to Drosophila nervy
    homolog to murine Cbfa2t1h
    intraspecies homolog to cyclin D2
    Homologene
    FAMILY
  • ETO family
  • CBFA2T family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • playing a role in brain development and neuronal differentiation
  • can enhance the transcriptional repressor function of ATN1
  • induce senescence-like growth arrest independently of replicative stress
  • major role for the functional interaction of AML1/RUNX1T1 with AML1 and TCF12 in transcriptional regulation determined by the fusion protein
  • may be involved in transcriptional regulation in neural stem cells and may have multiple roles during brain development and in heart development
  • can bind both co-repressor molecules and EP300, and may function as a fast-response adaptor protein, inducing transcriptional activation or repression depending on the signaling pathways activated in the cell
  • controls proliferation and the neurotoxic effect of microglia by epigenetically regulating CDK4 and LAT2 via its interaction with HDACs
  • could be involved in the process through which radial glial cells (RGCs) differentiate into neurons
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the HDAC1, NCOR1 and SIN3A complex with impaired ability of the fusion protein to repress transcription
  • interacting with atrophin 1 (enhancing the repressor properties of atrophin 1)
  • fusion protein RUNX1/RUNX1T1 up-regulating NTRK1 expression in CD34+ cells
  • RUNX1/RUNX1T1 interacts with SP1 (promotes leukemogenesis by blocking cell differentiation through inhibition of SP1 transactivity)
  • RUNX1T1 and CBFA2T3, are fused to the DNA-binding domain of AML1, a transcriptional activator crucial for hematopoiesis
  • NEUROG2 and ASCL1 are inhibited by CBFA2T2 and CBFA2T3, and less efficiently by RUNX1T1
  • PRMT1 interacts with RUNX1-RUNX1T1 to promote its transcriptional activation and progenitor cell proliferative potential
  • JMJD1C functions as a coactivator for RUNX1-RUNX1T1 and is required for its transcriptional program
  • E3 ubiquitin ligase STUB1 is a negative regulator of both RUNX1 and RUNX1-RUNX1T1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    translocation t(8;21)(q22;q22) forming a chimeric fusion protein with RUNX1 (5' - RUNX1 - RUNX1T1 - 3') in acute myeloid leukemia (AML-M2)
    tumoral fusion      
    AML1-ETO9a leads to rapid development of leukemia and results in the substantially earlier onset of AML because blocks myeloid cell differentiation at a more immature stage
    constitutional   translocation    
    disruption of RUNX1T1 suggest involvement in human brain and heart development
    tumoral       gain of function
    of the RUNX1-RUNX1T1 gene set may be an important factor contributing to the etiology of clear cell renal cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS