Gene content    
RUNX1 ( by HUGO)
Runt-Related Transcription Factor 1
Other
Runt-Related Transcription Factor 1
AML1
CBFA2
Acute Myeloid Leukemia 1 Protein
Oncogene AML-1
Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit
CBF-alpha-2
PEA2-Alpha B
PEBP2-Alpha B
SL3-3 Enhancer Factor 1 Alpha B Subunit
SL3/AKV Core-Binding Factor Alpha B Subunit
Acute Myeloid Leukemia 1
Aml1 Oncogene
Acute Myeloid Leukemia 1 Protein (Oncogene AML-1)
Core-Binding Factor
Alpha Subunit
AML1-EVI-1
AMLCR1
EVI-1
PEBP2aB
AML1-EVI-1 Fusion Protein
Core-Binding Factor
Runt Domain
Alpha Subunit 2
Core-Binding Factor Subunit Alpha-2
NCBI: 21q22.3    Ensembl: 21q22.12
RUNX1_HUMANSize: 453 amino acidsMass: 48737 Da

  • Subunit: Heterodimer with CBFB. RUNX1 binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Isoform AML-1L can neither bind DNA nor heterodimerize. Interacts with TLE1 and ALYREF/THOC4. Interacts with ELF1, ELF2 and SPI1. Interacts via its Runt domain with the ELF4 N-terminal region. Interaction with ELF2 isoform 2 (NERF-1a) may act to repress RUNX1-mediated transactivation. Interacts with KAT6A and KAT6B. Interacts with SUV39H1, leading to abrogation of transactivating and DNA-binding properties of RUNX1. Interacts with YAP1. Interacts with HIPK2 (By similarity). Interaction with CDK6 prevents myeloid differentiation, reducing its transcription transactivation activity. Found in a complex with PRMT5, RUNX1 AND CBFB Caution: The fusion of AML1 with EAP in T-MDS induces a change of reading frame in the latter resulting in 17 AA unrelated to those of EAP Sequence caution: Sequence=AAC05246.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAC05247.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; 5 PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for RUNX1: 1CMO (3D) [IMAGE] 1CO1 (3D) [IMAGE] 1E50 (3D) [IMAGE] 1H9D (3D) [IMAGE] 1LJM (3D) [IMAGE]
  • Tissue specificity: Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including RUNX1 (see all 12): Oncogenes & Tumor Suppressor Genes in human mouse
  • Function:
    UniProtKB/Swiss-Prot Summary: RUNX1_HUMAN, Q01196 Function: CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits KAT6B-dependent transcriptional activation
  • Similarity:
    Contains 1 Runt domain [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR000040AML1_RuntAcute myeloid leukemia 1 protein (AML 1)/RuntFamily
    IPR008967p53-like_TF_DNA-bdp53-like transcription factor, DNA-bindingDomain
    IPR012346p53/RUNT-type_TF_DNA-bdp53 and RUNT-type transcription factor, DNA-bindingDomain
    BlocksIPB000040Acute myeloid leukemia 1 protein signatureAcute myeloid leukemia 1 protein signature

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process hemopoiesis TAS GOA 12217689
    myeloid cell differentiation IDA GOA 11742995
    negative regulation of granulocyte differentiation IMP GOA 9199349
    positive regulation of granulocyte differentiation IMP GOA 9199349
    positive regulation of transcription from RNA polymerase II promoter IDA GOA 10207087
    positive regulation of transcription, DNA-templated IDA GOA 10207087
    Cellular Component nucleus TAS GOA 9199349
    nucleus IDA GOA 7862156
    Molecular Function calcium ion binding IDA GOA 12217689
    DNA binding IDA GOA 12217689
    protein binding IPI GOA 10207087
    protein heterodimerization activity IDA GOA 8413232
    protein homodimerization activity IDA GOA 10856244
    sequence-specific DNA binding transcription factor activity IDA GOA 14970218
    transcription factor binding IDA GOA 9199349

    Disorder & Mutation    
    Source Disease
    SWISS-PROTNote=A chromosomal aberration involving RUNX1 is found in acute leukemia. Translocation t(11,21)(q13;q22) that forms a MACROD1-RUNX1 fusion protein
    SWISS-PROTNote=A chromosomal aberration involving RUNX1/AML1 is found in childhood acute lymphoblastic leukemia (ALL). Translocation t(12;21)(p13;q22) with TEL. The translocation fuses the 3'-end of TEL to the alternate 5'-exon of AML-1H
    SWISS-PROTNote=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with EAP or MECOM
    SWISS-PROTNote=A chromosomal aberration involving RUNX1/AML1 is a cause of M2 type acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1T1
    SWISS-PROTNote=A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome (T-MDS). Translocation t(3;21)(q26;q22) with EAP or MECOM
    SWISS-PROTFamilial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]: Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. Note=The disease is caused by mutations affecting the gene represented in this entry
    SWISS-PROTNote=A chromosomal aberration involving RUNX1/AML1 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein
    SWISS-PROTNote=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion inv(21)(q21;q22) with USP16

    RUNX1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene