Aliases for RUNX1 Gene
- Runt Related Transcription Factor 1 2 3 5
- Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit 3 4
- SL3/AKV Core-Binding Factor Alpha B Subunit 3 4
- SL3-3 Enhancer Factor 1 Alpha B Subunit 3 4
- Runt-Related Transcription Factor 1 2 3
- Acute Myeloid Leukemia 1 Protein 3 4
- Oncogene AML-1 3 4
- PEBP2-Alpha B 3 4
- PEA2-Alpha B 3 4
- CBF-Alpha-2 3 4
- CBFA2 3 4
- AML1 3 4
- Core-Binding Factor, Runt Domain, Alpha Subunit 2 3
External Ids for RUNX1 Gene
Previous HGNC Symbols for RUNX1 Gene
Previous GeneCards Identifiers for RUNX1 Gene
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]
RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. This complex provides stability to the RUNX1 protein which is involved in the generation of hematopoietic stem cells and for their differentiation into myeloid and lymphoid lines. Loss of RUNX1 function has been shown to impair differentiation between myeloid and lymphoid lines often resulting in the development of leukemia.
GeneCards Summary for RUNX1 Gene
RUNX1 (Runt Related Transcription Factor 1) is a Protein Coding gene. Diseases associated with RUNX1 include Platelet Disorder, Familial, With Associated Myeloid Malignancy and Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein homodimerization activity. An important paralog of this gene is RUNX2.
UniProtKB/Swiss-Prot for RUNX1 Gene
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 (PubMed:17377532).