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CEBPE CCAAT enhancer binding protein epsilon [ Homo sapiens (human) ]

Gene ID: 1053, updated on 2-Oct-2018

Summary

Official Symbol
CEBPEprovided by HGNC
Official Full Name
CCAAT enhancer binding protein epsilonprovided by HGNC
Primary source
HGNC:HGNC:1836
See related
Ensembl:ENSG00000092067 MIM:600749; Vega:OTTHUMG00000028719
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRP1; C/EBP-epsilon
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]
Expression
Biased expression in bone marrow (RPKM 14.1) and small intestine (RPKM 1.0) See more
Orthologs

Genomic context

See CEBPE in Genome Data Viewer
Location:
14q11.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (23117306..23119611, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23586515..23588820, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene apoptotic chromatin condensation inducer 1 Neighboring gene uncharacterized LOC107984665 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene leishmanolysin like peptidase 2 Neighboring gene solute carrier family 7 member 8 Neighboring gene RNA, U6 small nuclear 1138, pseudogene Neighboring gene uncharacterized LOC105370406 Neighboring gene ring finger protein 212B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Specific granule deficiency
MedGen: C0398593 OMIM: 245480 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
NHGRI GWA Catalog
Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.
NHGRI GWA Catalog
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.
NHGRI GWA Catalog
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of CCAAT/enhancer binding protein epsilon subunit (CEBPE) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
cytokine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
defense response TAS
Traceable Author Statement
more info
PubMed 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
granulocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
macrophage differentiation IEA
Inferred from Electronic Annotation
more info
 
phagocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
CCAAT/enhancer-binding protein epsilon
Names
CCAAT/enhancer binding protein (C/EBP), epsilon
c/EBP epsilon

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009617.1 RefSeqGene

    Range
    4655..6960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_45

mRNA and Protein(s)

  1. NM_001805.3NP_001796.2  CCAAT/enhancer-binding protein epsilon

    See identical proteins and their annotated locations for NP_001796.2

    Status: REVIEWED

    Source sequence(s)
    BC035797, BX346756, BY995857
    Consensus CDS
    CCDS9589.1
    UniProtKB/Swiss-Prot
    Q15744
    Related
    ENSP00000206513.5, OTTHUMP00000164547, ENST00000206513.5, OTTHUMT00000071716
    Conserved Domains (2) summary
    cd14715
    Location:202262
    bZIP_CEBPE; Basic leucine zipper (bZIP) domain of CCAAT/enhancer-binding protein epsilon (CEBPE): a DNA-binding and dimerization domain
    cl26464
    Location:62192
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    23117306..23119611 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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