CEBPE

The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

Full Name

CEBPE

Function

Transcriptional activator (PubMed:26019275).
C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588).

Biological Process

Cellular response to lipopolysaccharide Source: Ensembl
Defense response Source: ProtInc
Defense response to bacterium Source: Ensembl
Granulocyte differentiation Source: UniProtKB
Macrophage differentiation Source: Ensembl
Myeloid cell differentiation Source: GO_Central
Phagocytosis Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: NTNU_SB
Regulation of transcription by RNA polymerase II Source: GO_Central

Cellular Location

Nucleus

Involvement in disease

Specific granule deficiency 1 (SGD1): An autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. Neutrophils of affected individuals lack lactoferrin and show abnormal nuclear segmentation, bilobed nuclei, low alkaline phosphatase, and increased number of neutrophil mitochondria and ribosomes.

PTM

Phosphorylated.