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FLASH GENE

Symbol

CEBPE

contributors: mct/npt - updated : 23-03-2010

HGNC name	CCAAT/enhancer binding protein (C/EBP), epsilon
HGNC id	1836

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SGD neutrophil-specific granule deficiency
Location	14q11.2      Physical location : 23.586.514 - 23.588.474
Synonym name	myeloid cell-specific transcription factor
	CCAAT/enhancer-binding protein epsilon
Synonym symbol(s)	C/EBP-epsilon, CRP1

DNA

TYPE	functioning gene
STRUCTURE	1.96 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - TRP1 - TRL1 - TRP2 - TRA@ - D14S990 - D14S264 - CEBPE /D14S275 - GZMB - CTSG - CMA1 - NP - TGM1 - qter
Authors	Antonson (96),Koike (97)

RNA

TRANSCRIPTS	type	messenger

text	4 isoforms (32, 30, 27, and 14 kDa) through differential RNA splicing, and alternative promoters and translational start sites (Bedi 2009)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001805 2 splicing 1250 30 281 - Chumakov (1997), Bedi (2009) transcriptional activator variant 4 - splicing - isoform 4 32 - - Bedi (2009) also called CEBPE32 transcriptional activator variant 3 - splicing - isoform 3 27 - - Bedi (2009) also called CEBPE27 interacts with and represses GATA1 transactivation of eosinophil promoters strongly inhibits eosinophil differentiation and gene expression, including GATA1, promoting granulocyte (neutrophil)-macrophage differentiation variant 2 - splicing - isoform 2 14 - - Bedi (2009) also called CEBPE14 contains only DNA-binding and -dimerization domains and may function as a dominant-negative regulator strongly inhibits eosinophil development and gene expression, promoting erythroid differentiation, an effect enhanced by erythropoietin

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon       liver         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte

cell lineage	cells of myeloid lineage, promyelocyte and late-myeloblast-like cell lines
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

basic leucine zipper (bZIP) protein (C/EBP)

HOMOLOGY

interspecies

ortholog to rattus crp1

Homologene

FAMILY

leucine zipper family of transcription factors

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	myelocyte differentiation, premyelocyte to myelocyte transition
	may be playing an essential role for terminal differentiation and functional maturation of committed granulocyte progenitor cells
	essential and sufficient for the expression of a particular subset of neutrophil secondary granule genes
	critical transcription factor in TNFalpha-induced up-regulation of GPX4 expression (Hattori 2007)
	important regulator of cytokine expression in human neutrophils (Cloutier 2009)
	required for the terminal differentiation of neutrophils and eosinophils (Bedi 2009)

CELLULAR PROCESS	nucleotide, transcription
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	myelopoiesis, hematopoiesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binds DNA as a dimer
	binding to CCAAT enhancer

RNA

small molecule

protein	expressing the eosinophil granule major basic protein (PRG2) and antagonizing the GATA1/SPI1 synergy
	interacting with RB1 and E2F1 important in C/EBPepsilon-induced terminal granulocytic differentiation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SGD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS