Details for: CEBPE

Gene ID: 1053

Symbol: CEBPE

Ensembl ID: ENSG00000092067

Description: CCAAT enhancer binding protein epsilon

Associated with

Other Information

Genular Protein ID: 2989185112

Symbol: CEBPE_HUMAN

Name: CCAAT/enhancer-binding protein epsilon

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8661101

Title: A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus.

PubMed ID: 8661101

DOI: 10.1006/geno.1996.0319

PubMed ID: 9032264

Title: Cloning of the novel human myeloid-cell-specific C/EBP-epsilon transcription factor.

PubMed ID: 9032264

DOI: 10.1128/mcb.17.3.1375

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10359588

Title: Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.

PubMed ID: 10359588

DOI: 10.1084/jem.189.11.1847

PubMed ID: 11313242

Title: Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon.

PubMed ID: 11313242

DOI: 10.1182/blood.v97.9.2561

PubMed ID: 26019275

Title: A novel in-frame deletion in the leucine zipper domain of C/EBPepsilon leads to neutrophil-specific granule deficiency.

PubMed ID: 26019275

DOI: 10.4049/jimmunol.1402222

PubMed ID: 28369036

Title: Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.

PubMed ID: 28369036

DOI: 10.1038/ng.3833

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 31201888

Title: Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

PubMed ID: 31201888

DOI: 10.1016/j.jaci.2019.06.003

PubMed ID: 17244686

Title: Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.

PubMed ID: 17244686

DOI: 10.1182/blood-2005-05-022004

PubMed ID: 29651288

Title: CEBPE-mutant specific granule deficiency correlates with aberrant granule organization and substantial proteome alterations in neutrophils.

PubMed ID: 29651288

DOI: 10.3389/fimmu.2018.00588

PubMed ID: 32391290

Title: Brain Abscess as Severe Presentation of Specific Granule Deficiency.

PubMed ID: 32391290

DOI: 10.3389/fped.2020.00117

Sequence Information:

  • Length: 281
  • Mass: 30603
  • Checksum: B0A1DFA88C04C3D0
  • Sequence:
  • MSHGTYYECE PRGGQQPLEF SGGRAGPGEL GDMCEHEASI DLSAYIESGE EQLLSDLFAV 
    KPAPEARGLK GPGTPAFPHY LPPDPRPFAY PPHTFGPDRK ALGPGIYSSP GSYDPRAVAV 
    KEEPRGPEGS RAASRGSYNP LQYQVAHCGQ TAMHLPPTLA APGQPLRVLK APLATAAPPC 
    SPLLKAPSPA GPLHKGKKAV NKDSLEYRLR RERNNIAVRK SRDKAKRRIL ETQQKVLEYM 
    AENERLRSRV EQLTQELDTL RNLFRQIPEA ANLIKGVGGC S

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.