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
- 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 Isolated Delta-Storage Pool Disease. Among its related pathways are Endometrial cancer and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein homodimerization activity. An important paralog of this gene is RUNX2.
UniProtKB/Swiss-Prot for RUNX1 Gene
Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5-TGTGGT-3, or very rarely, 5-TGCGGT-3, within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). 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). Positively regulates the expression of RORC in T-helper 17 cells (By similarity).
Isoform AML-1G shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation.
Isoform AML-1L interferes with the transactivation activity of RUNX1.