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

    Gene ID: 1053, updated on 19-Feb-2024

    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
    NEW
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    Genomic context

    See CEBPE in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23117306..23119255, complement)
    RS_2023_10 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 MED14-independent group 3 enhancer GRCh37_chr14:23547601-23548800 Neighboring gene apoptotic chromatin condensation inducer 1 Neighboring gene hESC enhancers GRCh37_chr14:23564101-23564624 and GRCh37_chr14:23564625-23565148 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene Sharpr-MPRA regulatory region 2207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23583091-23583809 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:23583975-23585174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23589263-23589793 Neighboring gene ciliated left-right organizer metallopeptidase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23592799-23593298 Neighboring gene Sharpr-MPRA regulatory region 2117 Neighboring gene solute carrier family 7 member 8 Neighboring gene RNA, U6 small nuclear 1138, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23641243-23641744 Neighboring gene uncharacterized LOC105370406 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23667234-23668018 Neighboring gene ring finger protein 212B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:23675605-23676210

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in granulocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in integrated stress response signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myeloid cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of 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)

    NEW Try the new Transcript table

    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, Q15745, Q8IYI2, 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: GCF_000001405.40-RS_2023_10

    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)