Immunogen sequence: PQPQSQMQDT RQIQPSPPWS YDQSYQYLGS IASPSVHPAT PISPGRASGM TTLSAELSSR LSTAPDLTAF SDPRQFPALP SISDPRMHYP GAFTYSPTPV TSGI
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 myeloid leukemia 1 protein; AML1-EVI-1 fusion protein; AMLCR1; CBF-alpha-2; CBFA2; Core-binding factor subunit alpha-2; core-binding factor, runt domain, alpha subunit 2; Oncogene AML-1; PEA2-alpha B; PEBP2-alpha B; PEBP2A2; Polyomavirus enhancer-binding protein 2 alpha B subunit; Runt-related transcription factor 1; RUNX1/ZNF687 fusion; SL3-3 enhancer factor 1 alpha B subunit; SL3/AKV core-binding factor alpha B subunit; transcription factor
Gene Aliases: AML1; AML1-EVI-1; AMLCR1; CBF2alpha; CBFA2; EVI-1; PEBP2aB; PEBP2alpha; RUNX1
UniProt ID: (Human) Q01196
Entrez Gene ID: (Human) 861