CBFB

Core-binding factor, beta subunit
PDB rendering based on 1cl3.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1cl3​, 1e50​, 1h9d​, 1ilf​, 1io4​, 2jhb​
Identifiers
Symbols	CBFB ; PEBP2B
External IDs	Template:OMIM5 Template:MGI HomoloGene: 11173
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Core-binding factor, beta subunit, also known as CBFB, is a human gene.

The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene.

Further reading

• Hart SM, Foroni L (2003). "Core binding factor genes and human leukemia". Haematologica. 87 (12): 1307–23. PMID 12495904.
• Liu P, Seidel N, Bodine D; et al. (1995). "Acute myeloid leukemia with Inv (16) produces a chimeric transcription factor with a myosin heavy chain tail". Cold Spring Harb. Symp. Quant. Biol. 59: 547–53. PMID 7587111.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hajra A, Collins FS (1995). "Structure of the leukemia-associated human CBFB gene". Genomics. 26 (3): 571–9. PMID 7607682.
• Bae SC, Takahashi E, Zhang YW; et al. (1995). "Cloning, mapping and expression of PEBP2 alpha C, a third gene encoding the mammalian Runt domain". Gene. 159 (2): 245–8. PMID 7622058.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Liu P, Tarlé SA, Hajra A; et al. (1993). "Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia". Science. 261 (5124): 1041–4. PMID 8351518.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Hillier LD, Lennon G, Becker M; et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. PMID 8889549.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hajra A, Collins FS (1997). "Structure of the leukemia-associated human CBFB gene". Genomics. 38 (1): 107. PMID 9064279.
• Chiba N, Watanabe T, Nomura S; et al. (1997). "Differentiation dependent expression and distinct subcellular localization of the protooncogene product, PEBP2beta/CBFbeta, in muscle development". Oncogene. 14 (21): 2543–52. doi:10.1038/sj.onc.1201109. PMID 9191054.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tanaka Y, Watanabe T, Chiba N; et al. (1997). "The protooncogene product, PEBP2beta/CBFbeta, is mainly located in the cytoplasm and has an affinity with cytoskeletal structures". Oncogene. 15 (6): 677–83. doi:10.1038/sj.onc.1201235. PMID 9264408.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kitabayashi I, Ida K, Morohoshi F; et al. (1998). "The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1". Mol. Cell. Biol. 18 (2): 846–58. PMID 9447981.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Levanon D, Goldstein RE, Bernstein Y; et al. (1998). "Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors". Proc. Natl. Acad. Sci. U.S.A. 95 (20): 11590–5. PMID 9751710.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kogan SC, Lagasse E, Atwater S; et al. (1998). "The PEBP2betaMYH11 fusion created by Inv(16)(p13;q22) in myeloid leukemia impairs neutrophil maturation and contributes to granulocytic dysplasia". Proc. Natl. Acad. Sci. U.S.A. 95 (20): 11863–8. PMID 9751756.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Goger M, Gupta V, Kim WY; et al. (1999). "Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta". Nat. Struct. Biol. 6 (7): 620–3. doi:10.1038/10664. PMID 10404215.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lutterbach B, Hou Y, Durst KL, Hiebert SW (1999). "The inv(16) encodes an acute myeloid leukemia 1 transcriptional corepressor". Proc. Natl. Acad. Sci. U.S.A. 96 (22): 12822–7. PMID 10536006.CS1 maint: Multiple names: authors list (link)
• Warren AJ, Bravo J, Williams RL, Rabbitts TH (2000). "Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta". EMBO J. 19 (12): 3004–15. doi:10.1093/emboj/19.12.3004. PMID 10856244.CS1 maint: Multiple names: authors list (link)
• Kanto S, Chiba N, Tanaka Y; et al. (2000). "The PEBP2beta/CBF beta-SMMHC chimeric protein is localized both in the cell membrane and nuclear subfractions of leukemic cells carrying chromosomal inversion 16". Leukemia. 14 (7): 1253–9. PMID 10914550.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• O'Reilly J, Chipper L, Springall F, Herrmann R (2000). "A unique structural abnormality of chromosome 16 resulting in a CBF beta-MYH11 fusion transcript in a patient with acute myeloid leukemia, FAB M4". Cancer Genet. Cytogenet. 121 (1): 52–5. PMID 10958941.CS1 maint: Multiple names: authors list (link)
• Bravo J, Li Z, Speck NA, Warren AJ (2001). "The leukemia-associated AML1 (Runx1)--CBF beta complex functions as a DNA-induced molecular clamp". Nat. Struct. Biol. 8 (4): 371–8. doi:10.1038/86264. PMID 11276260.CS1 maint: Multiple names: authors list (link)
• Bäckström S, Wolf-Watz M, Grundström C; et al. (2002). "The RUNX1 Runt domain at 1.25A resolution: a structural switch and specifically bound chloride ions modulate DNA binding". J. Mol. Biol. 322 (2): 259–72. PMID 12217689.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)