CBFB

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Core-binding factor, beta subunit
Protein CBFB PDB 1cl3.png
PDB rendering based on 1cl3.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CBFB ; PEBP2B
External IDs OMIM121360 MGI99851 HomoloGene11173 ChEMBL: 1615386 GeneCards: CBFB Gene
RNA expression pattern
PBB GE CBFB 202370 s at tn.png
PBB GE CBFB 206788 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 865 12400
Ensembl ENSG00000067955 ENSMUSG00000031885
UniProt Q13951 Q08024
RefSeq (mRNA) NM_001755 NM_001161456
RefSeq (protein) NP_001746 NP_001154928
Location (UCSC) Chr 16:
67.06 – 67.13 Mb
Chr 8:
105.17 – 105.22 Mb
PubMed search [1] [2]

Core-binding factor subunit beta is a protein that in humans is encoded by the CBFB gene.[1][2]

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.[3] Mutations in CBFB are implicated in cases of breast cancer.[4]

References[edit]

  1. ^ Liu P, Tarle SA, Hajra A, Claxton DF, Marlton P, Freedman M, Siciliano MJ, Collins FS (Sep 1993). "Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia". Science 261 (5124): 1041–4. doi:10.1126/science.8351518. PMID 8351518. 
  2. ^ Liu P, Seidel N, Bodine D, Speck N, Tarle S, Collins FS (Nov 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. doi:10.1101/sqb.1994.059.01.061. PMID 7587111. 
  3. ^ "Entrez Gene: CBFB core-binding factor, beta subunit". 
  4. ^ The Cancer Genome Atlas Network (2012). "Comprehensive molecular portraits of human breast tumours". Nature (Nature Publishing Group) 490 (7418): 61–70. doi:10.1038/nature11412. PMC 3465532. PMID 23000897. Retrieved 24 September 2012. 

Further reading[edit]