Runt-related transcription factor 1 (Protein name
), RUNX1_HUMAN from NCBI database.
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Gene name:
RUNX1(AML1;CBFA2);
Protein name:
Runt-related transcription factor 1;
Alternative:
Core-binding factor subunit alpha-2(CBF-alpha-2);Acute myeloid leukemia 1 protein;Polyomavirus enhancer-binding protein 2 alpha B subunit(PEA2-alpha B;PEBP2-alpha B);Oncogene AML-1;SL3/AKV core-binding factor alpha B subunit;SL3-3 enhancer factor 1 alpha B subunit;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Heterodimer with CBFB. RUNX1 binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Isoform AML-1L can neither bind DNA nor heterodimerize. Interacts with TLE1 and THOC4. Interacts with ELF1, ELF2 and SPI1. Interacts via its Runt domain with the ELF4 N-terminal region. Interaction with ELF2 isoform 2 (NERF-1a) may act to repress RUNX1-mediated transactivation. Interacts with MYST3 and MYST4. Interacts with SUV39H1, leading to abrogation of transactivating and DNA-binding properties of RUNX1. Interacts with YAP1. Interacts with HIPK2 (By similarity). Interaction with CDK6 prevents myeloid differentiation, reducing its transcription transactivation activity.
Function:
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, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits MYST4-dependent transcriptional activation.
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Cited for: ALTERNATIVE PRODUCTS;CHROMOSOMAL TRANSLOCATION WITH EAP
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Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM AML-1E);CHROMOSOMAL TRANSLOCATION WITH ETO
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Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS AML-1B; AML-1A; AML-1G AND AML-1L)
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Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM AML-1G)
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Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-177;CHROMOSOMAL TRANSLOCATION WITH MECOM IN CHRONIC MYELOCYTIC LEUKEMIA
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Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-90 (ISOFORMS AML-1H AND AML-1I)
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Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 440-453;ALTERNATIVE SPLICING
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Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-19;ALTERNATIVE SPLICING (ISOFORM AML-1G)
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Cited for: FUNCTION;INTERACTION WITH ELF1; ELF2; ELF4 AND SPI1
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Cited for: FUNCTION IN MYELOID DIFFERENTIATION;INTERACTION WITH CDK6
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Cited for: PHOSPHORYLATION AT SER-249; THR-273 AND SER-276 BY HIPK2;VARIANT GLN-174;MUTAGENESIS OF SER-67; LYS-83; GLY-108; SER-249; THR-273 AND SER-276
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Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-14 AND SER-21;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-14; SER-249; SER-266; SER-268 AND SER-276;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-24 AND LYS-43;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
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Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 59-173 IN COMPLEX WITH CBFB
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Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 54-243 IN COMPLEX WITH CBFB AND DNA;MUTAGENESIS OF ARG-80; LYS-83; THR-84; ARG-135; ARG-139; ARG-142; LYS-167; THR-169; ASP-171; ARG-174 AND ARG-177
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Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 61-174 IN COMPLEX WITH DNA
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Cited for: STRUCTURE BY NMR OF 53-178;MUTAGENESIS OF ALA-107 AND GLY-108
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Cited for: X-RAY CRYSTALLOGRAPHY (1.25 ANGSTROMS) OF 46-185;CHLORIDE-BINDING
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Cited for: CHROMOSOMAL TRANSLOCATION WITH MTG8/ETO IN AML-M2
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Cited for: CHROMOSOMAL TRANSLOCATION WITH MTG8/ETO IN AML-M2
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Cited for: CHROMOSOMAL TRANSLOCATION WITH MTG8/ETO IN AML-M2
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Cited for: CHROMOSOMAL TRANSLOCATION WITH EAP IN MYELODYSPLASIA
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Cited for: CHROMOSOMAL TRANSLOCATION WITH MTG8/ETO IN AML-M2
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Cited for: CHROMOSOMAL TRANSLOCATION WITH TEL IN ACUTE LYMPHOBLASTIC LEUKEMIA (ALL)
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Cited for: CHROMOSOMAL TRANSLOCATION WITH MTG8/ETO IN AML-M2
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Cited for: CHROMOSOMAL TRANSLOCATION WITH TEL IN ACUTE LYMPHOBLASTIC LEUKEMIA (ALL)