CBFB

Core-binding factor subunit beta is a protein that in humans is encoded by the CBFB gene.[5][6]

CBFB
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCBFB, PEBP2B, core-binding factor, beta subunit, core-binding factor beta subunit, core-binding factor subunit beta
External IDsOMIM: 121360 MGI: 99851 HomoloGene: 11173 GeneCards: CBFB
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16q22.1Start67,028,984 bp[1]
End67,101,058 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

865

12400

Ensembl

ENSG00000067955

ENSMUSG00000031885

UniProt

Q13951

Q08024

RefSeq (mRNA)

NM_001161456
NM_001161457
NM_001161458
NM_022309

RefSeq (protein)

NP_001154928
NP_001154929
NP_001154930
NP_071704

Location (UCSC)Chr 16: 67.03 – 67.1 MbChr 8: 105.17 – 105.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

Mutations in CBFB are implicated in cases of breast cancer.[8]

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.[9]

References

  1. GRCh38: Ensembl release 89: ENSG00000067955 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031885 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: CBFB core-binding factor, beta subunit".
  8. 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.
  9. "CBFB Gene." Genetics Home Reference. US National Library of Medicine, 10 Sept. 2015. Web. 27 Sept. 2015.

Further reading

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