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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. Specifically expressed in osteoblasts. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: DNA-binding; Transcription factor |
| Chromosomal Location of human Ortholog: 6p21.1 |
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Cellular Component:
chromatin; cytosol; nucleoplasm; nucleus; transcription regulator complex
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Molecular Function:
ATP binding; bHLH transcription factor binding; chromatin DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; protein binding; protein domain specific binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific double-stranded DNA binding
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Biological Process:
BMP signaling pathway; cell maturation; cellular response to BMP stimulus; chondrocyte development; chondrocyte differentiation; embryonic cranial skeleton morphogenesis; embryonic forelimb morphogenesis; endochondral ossification; epithelial cell proliferation; gene expression; hemopoiesis; ligamentous ossification; negative regulation of DNA-templated transcription; negative regulation of smoothened signaling pathway; neuron differentiation; odontogenesis of dentin-containing tooth; ossification; osteoblast development; osteoblast differentiation; osteoblast fate commitment; positive regulation of chondrocyte differentiation; positive regulation of DNA-templated transcription; positive regulation of epithelial cell proliferation; positive regulation of gene expression; positive regulation of osteoblast differentiation; positive regulation of stem cell proliferation; positive regulation of transcription by RNA polymerase II; positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus; regulation of cell differentiation; regulation of fibroblast growth factor receptor signaling pathway; regulation of odontogenesis of dentin-containing tooth; regulation of ossification; regulation of transcription by RNA polymerase II; response to L-ascorbic acid; response to sodium phosphate; SMAD protein signal transduction; smoothened signaling pathway; stem cell differentiation; stem cell proliferation; T cell differentiation
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Disease: Cleidocranial Dysplasia; Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
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Reference #:
Q13950
(UniProtKB)
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Alt. Names/Synonyms: Acute myeloid leukemia 3 protein; AML3; CBF-alpha 1; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; 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; Runt-related transcription factor 2; RUNX family transcription factor 2; RUNX2; SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV core-binding factor alpha A subunit
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Gene Symbols: RUNX2
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Molecular weight:
56,648 Da
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Basal Isoelectric point:
9.03
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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