DISEASES

Disease-gene associations mined from literature

Literature associating RUNX1 and leukemia

RUNX1 [ENSP00000300305]

Polyomavirus enhancer-binding protein 2 alpha B subunit; 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. Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down- regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells. Positively regulates the expression of RORC in T-helper 17 cells (By similarity).

Synonyms:  RUNX1,  LOC100506403,  LOC101928269,  RUNX1p,  hRUNX1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM