CEBPE

Protein identityUniProt · HPA

UniProt accession

Q15744

Gene

CEBPE

Ensembl

ENSG00000092067

Chromosome

14

Canonical length

281 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Plasma membrane,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

281 residues, UniProt reviewed canonical sequence.

>Q15744|CEBPE
     1  MSHGTYYECE PRGGQQPLEF SGGRAGPGEL GDMCEHEASI DLSAYIESGE EQLLSDLFAV
    61  KPAPEARGLK GPGTPAFPHY LPPDPRPFAY PPHTFGPDRK ALGPGIYSSP GSYDPRAVAV
   121  KEEPRGPEGS RAASRGSYNP LQYQVAHCGQ TAMHLPPTLA APGQPLRVLK APLATAAPPC
   181  SPLLKAPSPA GPLHKGKKAV NKDSLEYRLR RERNNIAVRK SRDKAKRRIL ETQQKVLEYM
   241  AENERLRSRV EQLTQELDTL RNLFRQIPEA ANLIKGVGGC S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEBPE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEBPE.

Disease | AllUniProt

Conditions CEBPE is implicated in, by any mechanism.

• Specific granule deficiency 1 (SGD1) MIM:245480
• Immunodeficiency 108 with autoinflammation (IMD108) MIM:260570

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 250 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Specific granule deficiency 1
• Specific granule deficiency
• SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT
• Pelger-Huet-like anomaly and episodic fever with abdominal pain

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1

gnomAD pLI

0.01

gnomAD missense Z

0.23

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to lipopolysaccharide
• defense response
• DNA-templated transcription
• granulocyte differentiation
• integrated stress response signaling
• macrophage differentiation
• myeloid cell differentiation
• phagocytosis
• positive regulation of gene expression
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• identical protein binding
• protein-containing complex binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleoplasm
• nucleus
• plasma membrane
• RNA polymerase II transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Basic-leucine zipper domain
• CCAAT/enhancer-binding protein, chordates
• CCAAT/enhancer-binding protein C/EBP
• Basic-leucine zipper domain superfamily
• Basic region leucine zipper

KeywordsUniProt

• Activator
• DNA-binding
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of CEBPE in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GATA1
• SMARCD2
• SPI1
• DDIT3