GeneID: 207
Names
| Common Name: | CEBPE | Type: | Gene |
|---|---|---|---|
| Chromosome: | 14 (NC_000014.9) | Locus: | NG_009617.1 (CEBPE) |
| HUGO Symbol: | CEBPE | Full Name: | CCAAT/enhancer binding protein epsilon |
| Exons: | 2 | Introns: | 1 |
Description:
The CEBPE gene is a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. It plays a critical role in terminal myeloid differentiation and acts during the various stages of cell cycle arrest, functional maturation and apoptosis. It is preferentially expressed during granulocytic differentiation. It works downstream of granulocyte colony-stimulating factor (G-CSF), which plays a key role in the development and function of neutrophils. It induces apoptosis by down-regulating anti-apoptotic proteins such as Bcl-2 and Bcl-x. It is implicated in the regulation of cytokine gene expression in mature cells. Different sized polypeptides can be produced for C/EBPE via alternative use of promoters and differential splicing. Mutations in this gene have been associated with Specific Granule Deficiency, as well as leukemogenesis. Polymorphisms in this gene were shown to affect the transfusion regimen, the pre-transfusion Hb level and the moderation of the β-thalassaemia phenotype, possibly via modification of the CEBPE action to reduce its apoptotic action, thereby reducing hemolysis.
Synonyms: CRP1 , C/EBP-epsilon
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Yamanaka R, Barlow C, Lekstrom-Himes J, Castilla LH, Liu PP, Eckhaus M, Decker T, Wynshaw-Boris A, Xanthopoulos KG, Impaired granulopoiesis, myelodysplasia, and early lethality in CCAAT/enhancer binding protein epsilon-deficient mice., Proc. Natl. Acad. Sci. U.S.A. , 94(24), 13187-92, 1997
- Williams SC, Du Y, Schwartz RC, Weiler SR, Ortiz M, Keller JR, Johnson PF, C/EBPepsilon is a myeloid-specific activator of cytokine, chemokine, and macrophage-colony-stimulating factor receptor genes., J. Biol. Chem. , 273(22), 13493-501, 1998
- Ramji DP, Foka P, CCAAT/enhancer-binding proteins: structure, function and regulation., Biochem. J. , 365(0), 561-75, 2002
- Nakajima H, Watanabe N, Shibata F, Kitamura T, Ikeda Y, Handa M, N-terminal region of CCAAT/enhancer-binding protein epsilon is critical for cell cycle arrest, apoptosis, and functional maturation during myeloid differentiation., J. Biol. Chem. , 281(20), 14494-502, 2006
- Mejri A, Mansri M, Hadj Fredj S, Ouali F, Bibi A, Hafsia R, Messaoud T, Siala H, First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients., Hemoglobin , 2016