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Protein Page:
AML3 (human)

Overview
AML3 Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. 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, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE). Inhibits KAT6B-dependent transcriptional activation. Interaction with SATB2 results in enhanced DNA binding and transactivation by these transcription factors. Heterodimer of an alpha and a beta subunit. Interacts with HIVEP3 and HIPK3. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with XRCC6 (Ku70) and XRCC5 (Ku80). Interacts with KAT6A and KAT6B. Binds to cyclin B1 CCNB1. Interacts with DDX5. Specifically expressed in osteoblasts. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 6p21
Cellular Component: nuclear chromatin; nucleoplasm; nucleus
Molecular Function: protein binding
Biological Process: BMP signaling pathway; chondrocyte differentiation; hemopoiesis; negative regulation of transcription, DNA-dependent; neuron differentiation; ossification; osteoblast differentiation; positive regulation of transcription, DNA-dependent; regulation of cell differentiation; regulation of transcription from RNA polymerase II promoter
Disease: Cleidocranial Dysplasia; Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Reference #:  Q13950 (UniProtKB)
Alt. Names/Synonyms: Acute myeloid leukemia 3 protein; AML3; CBF-alpha 1; CBF-alpha-1; CBFA1; CCD; CCD1; Core-binding factor subunit alpha-1; core-binding factor, runt domain, alpha subunit 1; MGC120022; MGC120023; Oncogene AML-3; OSF-2; OSF2; Osteoblast-specific transcription factor 2; PEA2-alpha A; PEA2aA; PEBP2-alpha A; PEBP2A; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1; polyomavirus enhancer binding protein 2 alpha A subunit; Polyomavirus enhancer-binding protein 2 alpha A subunit; Runt-related transcription factor 2; RUNX2; SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV core-binding factor alpha A subunit
Gene Symbols: RUNX2
Molecular weight: 56,648 Da
Basal Isoelectric point: 9.03  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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AML3

Protein Structure Not Found.


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