AML1/Runx1 binds DNA as a monomer and through the Runt domain. DNA binding is increased by heterodimerization with CBFB. Isoform AML1L can neither bind DNA nor heterodimerize and interferes with the transactivation activity of AML1/Runx1. 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, IL3 and GMCSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. AML1/Runx1 is expressed in all tissues examined except brain and heart, and is expressed at the highest levels in thymus, bone marrow and peripheral blood. Defects in AML1/Runx1 are the cause of familial platelet disorder with associated myeloid malignancy, an autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.
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Protein Aliases: acute myelogenous leukemia 1 translocation 1, cyclin-D related; Acute myeloid leukemia 1 protein; alpha subunit 2; aml1 oncogene; AML1-EVI-1; AML1-EVI-1 fusion protein; AML1T1; AMLCR1; CBF-alpha-2; CBFA2; CBFA2T1; CBFA2T1 isoform r1t1-11a61; CBFA2T1 isoform r1t1-11a62; CBFA2T1 isoform r1t1-11a63; CBFA2T1 isoform r1t1-11a64; CBFA2T1 isoform r1t1-11a65; CBFA2T1 isoform r1t1-7a47; CBFA2T1 isoform r1t1-7a48; CBFA2T1 isoform r1t1-7a49; CBFA2T1 isoform r1t1-7a50; CBFA2T1 isoform r1t1-7a51; CBFA2T1 isoform r1t1-7a52; CBFA2T1 isoform r1t1-7d53; CBFA2T1 isoform r1t1-7d54; CBFA2T1 isoform r1t1-7d55; CBFA2T1 isoform r1t1-7d56; CBFA2T1 isoform r1t1-8a57; CBFA2T1 isoform r1t1-8a58; CBFA2T1 isoform r1t1-8a59; CBFA2T1 isoform r1t1-8a60; core-binding factor; Core-binding factor subunit alpha-2; core-binding factor, runt domain, alpha subunit 2; core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related; Cyclin-D-related protein; Eight twenty one protein; ETO; MTG8; myeloid translocation gene on 8q22; Oncogene AML-1; PEA2-alpha B; PEBP2-alpha B; PEBP2aB; Polyomavirus enhancer-binding protein 2 alpha B subunit; Protein CBFA2T1; Protein ETO; Protein MTG8; runt domain; runt related transcription factor 1; translocated to, 1 (cyclin D related); Runt-related transcription factor 1; runt-related transcription factor 1; translocated to, 1 (cyclin D-related); RUNX1-RUNX1T1 fusion protein; RUNX1/ZNF687 fusion; RUNX1T1; SL3-3 enhancer factor 1 alpha B subunit; SL3/AKV core-binding factor alpha B subunit; transcription factor; Zinc finger MYND domain-containing protein 2; ZMYND2
Gene Aliases: AML1; AML1-EVI-1; AML1-MTG8; AML1T1; AMLCR1; CBF2alpha; CBFA2; CBFA2T1; CDR; ETO; EVI-1; MTG8; PEBP2aB; PEBP2alpha; RUNX1; RUNX1T1; ZMYND2