CEBPE (CCAAT enhancer binding protein epsilon)

Gene

• Entrez ID: 1053
• Gene name: CCAAT enhancer binding protein epsilon
• Gene symbol: CEBPE
• Synonyms: C/EBP-epsilon, CRP1, c/EBP epsilon
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs760325316	G>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022958	hsa-miR-124-3p	Microarray	18668037

Transcription factors

Transcription factor	Regulation	Reference
STAT1	Activation	16918696

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	10233885
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	10233885
GO:0005515	Function	Protein binding	IPI	26019275
GO:0005634	Component	Nucleus	IDA	11313242
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006909	Process	Phagocytosis	IEA
GO:0006952	Process	Defense response	TAS	8661101
GO:0030099	Process	Myeloid cell differentiation	IBA	21873635
GO:0030225	Process	Macrophage differentiation	IEA
GO:0030851	Process	Granulocyte differentiation	IMP	10359588
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10233885
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600749
• HGNC: 1836
• e!Ensembl: ENSG00000092067

Protein

• UniProt ID: Q15744
• Protein name: CCAAT/enhancer-binding protein epsilon (C/EBP epsilon)
• Protein 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).
• PDB: 3T92
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07716	bZIP_2	203 → 256	Basic region leucine zipper	Coiled-coil

• Sequence:

  MSHGTYYECEPRGGQQPLEFSGGRAGPGELGDMCEHEASIDLSAYIESGEEQLLSDLFAV
  KPAPEARGLKGPGTPAFPHYLPPDPRPFAYPPHTFGPDRKALGPGIYSSPGSYDPRAVAV
  KEEPRGPEGSRAASRGSYNPLQYQVAHCGQTAMHLPPTLAAPGQPLRVLKAPLATAAPPC
  SPLLKAPSPAGPLHKGKKAVNKDSLEYRLRRERNNIAVRKSRDKAKRRILETQQKVLEYM
  AENERLRSRVEQLTQELDTLRNLFRQIPEAANLIKGVGGCS

• Sequence length: 281