RUNX1

Runt-related transcription factor 1 ;
Acute myeloid leukemia 1 protein ;
Core-binding factor subunit alpha-2 ;
CBF-alpha-2 ;
Oncogene AML-1 ;
Polyomavirus enhancer-binding protein 2 alpha B subunit ;
PEA2-alpha B ;
PEBP2-alpha B ;
SL3-3 enhancer factor 1 alpha B subunit ;
SL3/AKV core-binding factor alpha B subunit ;

alternative products:Additional isoforms seem to exist ,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. ,disease:A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML) . Translocation t (3;21) (q26;q22) with EAP , MSD1 or EVI1. ,disease:A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion inv (21) (q21;q22) with USP16. ,disease: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/MTG8/ETO. ,disease:A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome (T-MDS) . Translocation t (3;21) (q26;q22) with EAP , MSD1 or EVI1. ,disease: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. ,disease: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. ,disease:Defects in RUNX1 are the cause of familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]. FPDMM is an autosomal dominant disease characterized by qualitative and quantitative platelet defects , and propensity to develop acute myelogenous leukemia. ,domain:A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes. ,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 MYST4-dependent transcriptional activation. ,PTM:Methylated. ,PTM:Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with MYST3. ,similarity:Contains 1 Runt domain. ,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 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 MYST3 and MYST4. Interacts with SUV39H1 , leading to abrogate the transactivating and DNA-binding properties of RUNX1. ,tissue specificity:Expressed in all tissues examined except brain and heart. Highest levels in thymus , bone marrow and peripheral blood. ,

immune system development , regulation of myeloid leukocyte differentiation , negative regulation of myeloid leukocyte differentiation , positive regulation of myeloid leukocyte differentiation , transcription , regulation of transcription , DNA-dependent , regulation of transcription from RNA polymerase II promoter , positive regulation of biosynthetic process ,positive regulation of macromolecule biosynthetic process , positive regulation of macromolecule metabolic process ,positive regulation of gene expression , hemopoiesis , myeloid cell differentiation , regulation of granulocyte differentiation , negative regulation of granulocyte differentiation , positive regulation of granulocyte differentiation ,positive regulation of cellular biosynthetic process , regulation of transcription , negative regulation of cell differentiation , positive regulation of cell differentiation , regulation of myeloid cell differentiation , negative regulation of myeloid cell differentiation , positive regulation of myeloid cell differentiation , regulation of angiogenesis , positive regulation of angiogenesis , positive regulation of transcription , DNA-dependent , positive regulation of nucleobase , nucleoside , nucleotide and nucleic acid metabolic process , positive regulation of transcription , positive regulation of transcription from RNA polymerase II promoter , hemopoietic or lymphoid organ development , positive regulation of developmental process , positive regulation of nitrogen compound metabolic process , regulation of RNA metabolic process , positive regulation of RNA metabolic process ,

Nucleus.