CBFB

CBFB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1CL3, 1E50, 1H9D, 4N9F
Identifiers
Aliases	CBFB, PEBP2B, core-binding factor, beta subunit
External IDs	MGI: 99851 HomoloGene: 11173 GeneCards: CBFB
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • transcription coactivator activity • protein binding • DNA binding • transcription cofactor activity Cellular component • nucleus • membrane • core-binding factor complex Biological process • definitive hemopoiesis • myeloid cell differentiation • protein polyubiquitination • cell maturation • transcription from RNA polymerase II promoter • ossification • osteoblast differentiation • positive regulation of transcription from RNA polymerase II promoter • lymphocyte differentiation • regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	865	12400
Ensembl	ENSG00000067955	ENSMUSG00000031885
UniProt	Q13951	Q08024
RefSeq (mRNA)	NM_001755 NM_022845	NM_001161456 NM_001161457 NM_001161458 NM_022309
RefSeq (protein)	NP_001746.1 NP_074036.1	NP_001154928.1 NP_001154929.1 NP_001154930.1 NP_071704.3
Location (UCSC)	Chr 16: 67.03 – 67.1 Mb	Chr 8: 105.17 – 105.22 Mb
PubMed search	[1]	[2]
Wikidata

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

Further reading

PDB gallery
1cl3: MOLECULAR INSIGHTS INTO PEBP2/CBF-SMMHC ASSOCIATED ACUTE LEUKEMIA REVEALED FROM THE THREE-DIMENSIONAL STRUCTURE OF PEBP2/CBF BETA  1e50: AML1/CBF COMPLEX  1h9d: AML1/CBF-BETA/DNA COMPLEX  1ilf: NMR STRUCTURE OF APO CBFB  1io4: CRYSTAL STRUCTURE OF RUNX-1/AML1/CBFALPHA RUNT DOMAIN-CBFBETA CORE DOMAIN HETERODIMER AND C/EBPBETA BZIP HOMODIMER BOUND TO A DNA FRAGMENT FROM THE CSF-1R PROMOTER  2jhb: CORE BINDING FACTOR BETA