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FLASH GENE
Symbol RUNX1T1 contributors: mct/npt/pgu - updated : 08-01-2015
HGNC name runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
HGNC id 1535
Location 8q21.3      Physical location : 92.971.151 - 93.107.443
Synonym name
  • core-binding factor, runt domain, alpha subunit 2; translocated to, 1 ; cyclin D-related
  • myeloid translocation gene on 8q22
  • acute myelogenous leukemia 1 translocation 1, cyclin D-related
  • zinc finger MYND domain-containing protein 2
  • eight twenty one protein
  • Synonym symbol(s) MTG8, ETO, AM1L1T1, CDR, CBFA2T1, MGC2796, MTG8b, ZMYND2
    DNA
    TYPE functioning gene
    STRUCTURE 148.26 kb     11 Exon(s)
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • two alternative exons, last exon 11encoding MYND domain
  • GATA1 transcription factor binds and transactivates the RUNX1T1 proximal promoter in an erythroid/megakaryocytic-specific manner
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text inclusion of exon 9a leading to a frameshift and a truncated protein, other transcripts with different 5' region
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 3463 - 577 - 1998 9661669
  • also called MTG8a
  • lacking exon 1
  • 11 splicing 3217 - 604 - 1998 9661669
    also called MTG8b
    12 - 7401 - 577 - 1998 9661669
  • also called MTG8a-alt or MTG8a-2, or ETO9A
  • lacking exon 1 including exon 9a (inclusion of exon 9a in the mRNA changes the open reading frame which introduces a premature stop codon )
  • AML1-ETO9a encodes a C-terminally truncated AML1-ETO protein of 575 amino acids and leads to rapid development of leukemia
  • 13 - 7627 - 604 - 1998 9661669
  • also called MTG8b-alt or MTG8b-2, or ETO9A
  • including exon 9a (inclusion of exon 9a in the mRNA changes the open reading frame which introduces a premature stop codon )
  • AML1-ETO9a encodes a C-terminally truncated AML1-ETO protein of 575 amino acids and leads to rapid development of leukemia
  • 10 - 3362 - 567 - 1998 9661669
    also called MTG8c
    11 - 3233 - 567 - 1998 9661669
    also called MTG8c
    15 splicing 7769 - 577 only in the testis and in leukemia cell lines 1998 9661669
  • also called MTG8v, or MTG8a
  • exon 1a encoding 27AA in-frame
  • C-terminal truncated protein without MYND domain
  • may contribute to malignant conversion of hematopoietic cells or to the progression of leukemia
  • 11 - 7372 - 584 - 1998 9661669
    11 - 7284 - 604 - 1998 9661669
  • also called MTG8b
  • 11 - 7310 - 615 - 1998 9661669
    11 - 7483 - 604 - 1998 9661669
  • also called MTG8b
  • 12 - 7454 - 663 - 1998 9661669
    14 - 7687 - 604 - 1998 9661669
  • also called MTG8b
  • 12 - 7410 - 604 - 1998 9661669
  • also called MTG8b
  • 13 - 7470 - 604 - 1998 9661669
  • also called MTG8b
  • 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
  • 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