CBFB (subunit b of core binding factor)

1999-06-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
16q22.1
IMAGE
Atlas Image
LEGEND
CBFB (16q22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
IMAGE
Atlas Image
LEGEND
CBFB (subunit b of core binding factor) Hybridization with LSI CBFB dual-color break part probe (Abbott Molecular, US), showing CBFB on 16q22.11 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova.
LOCUSID
ALIAS
PEBP2B
FUSION GENES

DNA/RNA

Atlas Image

Description

6 exons; 50 kb

Transcription

alternate splicing at cDNA positions 495 (in exon 5) and 526

Proteins

Description

2 alternative forms of 182 and 187 amino acids with the first 165 N-term identical amino acids and different C-term; 22 kDa

Expression

wide

Localisation

cytoplasmic when not dimerized

Function

CBF is a heterodimer comprising the subunit b (CBFb) and the subunit CBFa (3 CBFa genes are known, of which is CBFa2, also called AML1, involved in the well known t(8;21), t(12;21), and in other leukaemias); CBF binds to a core motif of the DNA (herein the name); CBFb by itself does not contain any known DNA binding motif or any transcriptional activation domain; CBFa binds to DNA; CBFb increases CBFas affinity to DNA by 5 to 10 fold; CBF is a transcription factor which regulates the expression of myeloid and T-cell specific genes such as: GM-CSF, M-CSFR, IL3, T- Cell receptors TCRA-D, TCRB and TCRG; CBF cooperate with various tissue specific factors to activate these lineage-restricted transcriptions; homozygous knock down of either CBFb or CBFa results in embryonic lethality, showing that they are essential for fetal liver hematopoiesis

Homology

highly conserved through the species

Implicated in

Entity name
inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (AML) or myelodysplastic syndromes (MDS) --> CBFB - MYH11
Disease
nearly pathognomonic of M4eo-AML: with eosinophilia; frequent CNS involvement
Prognosis
high CR rate; better prognosis than most other AML
Cytogenetics
the 3 chromosome anomalies are variants of each other
Hybrid gene
5 CBFb - 3 MYH11
Fusion protein
the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain

Bibliography

Pubmed IDLast YearTitleAuthors
89295371996Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11.Castilla LH et al
83389411993Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia.Liu P et al
83868781993Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha.Ogawa E et al
83417101993PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene.Ogawa E et al
89295381996The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo.Wang Q et al
84972541993Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor.Wang S et al
86372271996Acute myelogenous leukemia: a disorder of gene splicing?van der Reijden BA et al

Other Information

Locus ID:

NCBI: 865
MIM: 121360
HGNC: 1539
Ensembl: ENSG00000067955

Variants:

dbSNP: 865
ClinVar: 865
TCGA: ENSG00000067955
COSMIC: CBFB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000067955ENST00000290858Q13951
ENSG00000067955ENST00000290858A0A024R6X2
ENSG00000067955ENST00000412916Q13951
ENSG00000067955ENST00000561924J3KS23
ENSG00000067955ENST00000563939J3KRT0
ENSG00000067955ENST00000564034H3BSC0
ENSG00000067955ENST00000565389J3KTD8
ENSG00000067955ENST00000650873A0A494C0A9

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
221900372011Vif hijacks CBF-β to degrade APOBEC3G and promote HIV-1 infection.172
221900362011T-cell differentiation factor CBF-β regulates HIV-1 Vif-mediated evasion of host restriction.137
244022812014Structural basis for hijacking CBF-β and CUL5 E3 ligase complex by HIV-1 Vif.87
293862182018Long Noncoding RNA LINC01234 Functions as a Competing Endogenous RNA to Regulate CBFB Expression by Sponging miR-204-5p in Gastric Cancer.50
222057462012Vif proteins of human and simian immunodeficiency viruses require cellular CBFβ to degrade APOBEC3 restriction factors.43
191561452009Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer.40
155856522005Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11.39
240025882014CBFB-MYH11/RUNX1 together with a compendium of hematopoietic regulators, chromatin modifiers and basal transcription factors occupies self-renewal genes in inv(16) acute myeloid leukemia.27
191794692009CBFbeta is critical for AML1-ETO and TEL-AML1 activity.25
153864192005Frequent downregulation of the runt domain transcription factors RUNX1, RUNX3 and their cofactor CBFB in gastric cancer.24

Citation

Jean-Loup Huret

CBFB (subunit b of core binding factor)

Atlas Genet Cytogenet Oncol Haematol. 1999-06-01

Online version: http://atlasgeneticsoncology.org/gene/45/cbfbid45