CBFB

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CBFB
Protein CBFB PDB 1cl3.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CBFB, PEBP2B, core-binding factor, beta subunit
External IDs MGI: 99851 HomoloGene: 11173 GeneCards: CBFB
RNA expression pattern
PBB GE CBFB 206788 s at fs.png

PBB GE CBFB 202370 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001755
NM_022845

NM_001161456
NM_001161457
NM_001161458
NM_022309

RefSeq (protein)

NP_001746
NP_074036

Location (UCSC) Chr 16: 67.03 – 67.1 Mb Chr 8: 105.17 – 105.22 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Core-binding factor subunit beta is a protein that in humans is encoded by the CBFB gene.[3][4]

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 the 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.[5] Mutations in CBFB are implicated in cases of breast cancer.[6]

Core binding factor acute myeloid leukaemia is a cancer related to genetic changes in the CBF gene. It is most commonly caused by an inversion of particular region of chromosome 16; however it can also be caused by translocation between copies of chromosome 16. The rearrangements cause formation of CBF but with impaired function. This prevents proper differentiation of blood cells, leading to the formation of Myeloblast.[7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ "Entrez Gene: CBFB core-binding factor, beta subunit". 
  6. ^ 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 3465532Freely accessible. PMID 23000897. Retrieved 24 September 2012. 
  7. ^ "CBFB Gene." Genetics Home Reference. US National Library of Medicine, 10 Sept. 2015. Web. 27 Sept. 2015.

External links[edit]

Further reading[edit]