RUNX1 Antibody – Mouse Monoclonal

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

AML1: 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. 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. Interaction with CDK6 prevents myeloid differentiation, reducing its transcription transactivation activity. Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood. 11 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Oncoprotein; Transcription factor

Chromosomal Location of Human Ortholog: 21q22.12

Cellular Component: cytoplasm; intracellular membrane-bound organelle; nucleoplasm; nucleus

Molecular Function: protein binding

Biological Process: chondrocyte differentiation; hemopoiesis; ossification; peripheral nervous system neuron development; positive regulation of angiogenesis; positive regulation of granulocyte differentiation; positive regulation of interleukin-2 production; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent

Disease: Leukemia, Acute Myeloid; Platelet Disorder, Familial, With Associated Myeloid Malignancy; Rheumatoid Arthritis