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]

Description

CCAAT enhancer binding protein epsilon

Tissue specificity

Tissue enriched (bone marrow)

Subcell location

Nucleoplasm, Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

14 (23117306 - 23119255)

Ensembl ID

ENSG00000092067  (ver. 103.38)

Orthologs

Mouse Cebpe: ENSMUSG00000052435

UniProt

Q15744

neXtProt

NX_Q15744

Human splice variants
Mouse splice variants

Protein structure