RUNX1

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]

RUNX1

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.

Biological Process cardiac muscle tissue regenerationISS:BHF-UCL
Biological Process chondrocyte differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process hematopoietic stem cell proliferationManual Assertion Based On ExperimentTAS:UniProtKB
Biological Process hemopoiesisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process myeloid cell differentiationIDA:UniProtKB
Biological Process myeloid leukocyte differentiationManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process negative regulation of CD4-positive, alpha-beta T cell differentiationISS:UniProtKB
Biological Process negative regulation of granulocyte differentiationIMP:UniProtKB
Biological Process negative regulation of transcription by RNA polymerase IIISS:UniProtKB
Biological Process neuron differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ossificationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process peripheral nervous system neuron developmentManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process positive regulation of angiogenesisISS:UniProtKB
Biological Process positive regulation of CD8-positive, alpha-beta T cell differentiationISS:UniProtKB
Biological Process positive regulation of collagen biosynthetic processISS:BHF-UCL
Biological Process positive regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of extracellular matrix organizationISS:BHF-UCL
Biological Process positive regulation of granulocyte differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of interleukin-2 productionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of cardiac muscle cell proliferationISS:BHF-UCL
Biological Process regulation of cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of connective tissue replacementISS:BHF-UCL
Biological Process regulation of plasminogen activationISS:BHF-UCL
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Nucleus

Familial platelet disorder with associated myeloid malignancy (FPDMM):
Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.

Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with KAT6A.
Methylated.
Phosphorylated in Ser-249 Thr-273 and Ser-276 by HIPK2 when associated with CBFB and DNA. This phosphorylation promotes subsequent EP300 phosphorylation.