RUNX1

GeneName

RUNX1

Summary

RUNX1, also known as AML1, AML-1, or CBFA2, is a 49 kDa transcription factor that is primarily expressed in hematopoietic tissues. It is localised in the nucleus and plays a crucial role in the regulation of gene expression by binding to DNA and acting as a transcriptional activator. RUNX1 is involved in various biological processes including hematopoiesis, myeloid differentiation, and cardiac muscle tissue regeneration. It functions as part of the core-binding factor complex and is essential for the proliferation and differentiation of hematopoietic stem cells, as well as in the negative and positive regulation of T cell differentiation and angiogenesis.

Importance

RUNX1 is relevant to: - The development of acute myeloid leukaemia (AML) due to its role in myeloid differentiation and its involvement in chromosomal translocations associated with the disease. - Cardiac development and regeneration, highlighting its significance in heart-related research and potential therapies. - Immune response regulation, especially in T cell differentiation, which has implications for autoimmune diseases and immunotherapy. - Tissue regeneration and repair processes, making it a target for regenerative medicine approaches.

Top Products

For researchers investigating RUNX1, we recommend two excellent primary antibodies. The first is the well-cited polyclonal antibody, Anti-RUNX1 / AML1 antibody (ab23980), which has garnered 162 citations, highlighting its reliability in Western blotting (WB). This antibody is a trusted choice for those focusing on RUNX1 detection. Additionally, we offer the recombinant antibody, Anti-RUNX1 / AML1 + RUNX3 + RUNX2 antibody [EPR3099] (ab92336). This versatile monoclonal antibody has been validated for use in multiple applications, including WB, immunohistochemistry (IHC), immunoprecipitation (IP), and flow cytometry (FC). With 120 citations, it demonstrates strong performance and consistency, making it an excellent option for researchers seeking comprehensive RUNX1 analysis. The Anti-RUNX1 / AML1 antibody ELISA Kit (ab240639), supported by 13 citations, is an excellent option for researchers looking to accurately measure RUNX1 levels in their samples.

Abcam Product Citation Summary

The data indicates that RUNX1 is extensively studied in various human cell types, particularly in the context of cancer, differentiation, and gene regulation. The use of Abcam antibodies in both Western blotting and ChIP assays highlights the importance of RUNX1 in transcriptional regulation and its potential role in breast cancer and haematopoietic differentiation. Additionally, RUNX1 is also investigated in mouse models, suggesting its relevance in developmental studies.

Abcam Product Citation Table

Domain

A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes.

Function

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.

Involvement in disease

A chromosomal aberration involving RUNX1/AML1 is a cause of M2 type acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1T1.

A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome (T-MDS). Translocation t(3;21)(q26;q22) with EAP or MECOM.

A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with EAP or MECOM.

A chromosomal aberration involving RUNX1/AML1 is found in childhood acute lymphoblastic leukemia (ALL). Translocation t(12;21)(p13;q22) with TEL. The translocation fuses the 3'-end of TEL to the alternate 5'-exon of AML-1H.

A chromosomal aberration involving RUNX1 is found in acute leukemia. Translocation t(11,21)(q13;q22) that forms a MACROD1-RUNX1 fusion protein.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

A chromosomal aberration involving RUNX1/AML1 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.

A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion inv(21)(q21;q22) with USP16.

A chromosomal aberration involving RUNX1/AML1 is found in acute myeloid leukemia. Translocation t(20;21)(q11;q22) with CBFA2T2.

Post-translational modifications

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.

Tissue Specificity

Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.

Cellular localization

• Nucleus

Alternative names

AML1, CBFA2, RUNX1, Runt-related transcription factor 1, Acute myeloid leukemia 1 protein, Core-binding factor subunit alpha-2, Oncogene AML-1, Polyomavirus enhancer-binding protein 2 alpha B subunit, SL3-3 enhancer factor 1 alpha B subunit, SL3/AKV core-binding factor alpha B subunit, CBF-alpha-2, PEA2-alpha B, PEBP2-alpha B

Database links

swissprot:Q01196 entrezGene:860 entrezGene:861 entrezGene:864 swissprot:Q13950 swissprot:Q13761 omim:600211 omim:600210 omim:151385

Other research areas

• Neuroscience
• Oncology