RUNX1 : RUNX family transcription factor 1

Description

The RUNX1 (RUNX family transcription factor 1) is a protein-coding gene located on chromosome 21.

The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). Like other transcription factors, the RUNX1 protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein interacts with another protein called core binding factor beta or CBFβ (produced from the CBFB gene), which helps RUNX1 bind to DNA and prevents it from being broken down. Together, these proteins form one version of a complex known as core binding factor (CBF). The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis). In particular, it plays an important role in development of hematopoietic stem cells, early blood cells that have the potential to develop into all types of mature blood cells such as white blood cells, red blood cells, and platelets.

RUNX1 forms a complex called core-binding factor (CBF) with CBFB. RUNX1 regulates gene activity by recognizing specific DNA sequences (5'-TGTGGT-3' or 5'-TGCGGT-3') through its runt domain. CBFB enhances RUNX1's DNA-binding ability. CBF binds to various enhancers and promoters, including those for murine leukemia virus, polyomavirus, T-cell receptors, LCK, IL3, and GM-CSF. RUNX1 is crucial for normal blood cell development. It collaborates with ELF4 to activate the IL-3 promoter and with ELF2 to activate the BLK promoter. RUNX1 can suppress the activity of KAT6B. It plays a role in the development of different types of T cells. CBF complexes repress ZBTB7B during cytotoxic T cell development by binding to a RUNX-binding sequence and recruiting proteins that modify the DNA region. RUNX1 interacts with FOXP3 to control the activity of regulatory T cells. RUNX1 activates the expression of IL2 and IFNG and reduces the expression of TNFRSF18, IL2RA, and CTLA4 in conventional T cells. It promotes the expression of RORC in T-helper 17 cells.

RUNX1 is also known as AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing