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

Gene ID: 1053, updated on 8-Dec-2022

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; AllianceGenome:HGNC:1836
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; SGD1; IMD108; C/EBP-epsilon; 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
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Genomic context

See CEBPE in Genome Data Viewer
Location:
14q11.2
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23117306..23119255, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17317962..17319911, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23586515..23588464, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903288 Neighboring gene apoptotic chromatin condensation inducer 1 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene ciliated left-right organizer metallopeptidase 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pelger-Huet-like anomaly and episodic fever with abdominal pain
MedGen: C1850054 OMIM: 260570 GeneReviews: Not available
Compare labs
Specific granule deficiency 1
MedGen: C4551556 OMIM: 245480 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001805.4NP_001796.2  CCAAT/enhancer-binding protein epsilon

    See identical proteins and their annotated locations for NP_001796.2

    Status: REVIEWED

    Source sequence(s)
    AL117258, BC035797
    Consensus CDS
    CCDS9589.1
    UniProtKB/Swiss-Prot
    Q15744, Q99803
    Related
    ENSP00000206513.5, ENST00000206513.6
    Conserved Domains (2) summary
    PHA03247
    Location:62192
    PHA03247; large tegument protein UL36; Provisional
    cd14715
    Location:202262
    bZIP_CEBPE; Basic leucine zipper (bZIP) domain of CCAAT/enhancer-binding protein epsilon (CEBPE): a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    23117306..23119255 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17317962..17319911 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)