Human Gene CEBPE (ENST00000206513.6) from GENCODE V44
  Description: Homo sapiens CCAAT enhancer binding protein epsilon (CEBPE), mRNA. (from RefSeq NM_001805)
RefSeq Summary (NM_001805): 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].
Gencode Transcript: ENST00000206513.6
Gencode Gene: ENSG00000092067.7
Transcript (Including UTRs)
   Position: hg38 chr14:23,117,306-23,119,255 Size: 1,950 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr14:23,117,487-23,119,091 Size: 1,605 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:23,117,306-23,119,255)mRNA (may differ from genome)Protein (281 aa)
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OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CEBPE_HUMAN
DESCRIPTION: RecName: Full=CCAAT/enhancer-binding protein epsilon; Short=C/EBP epsilon;
FUNCTION: C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers.
SUBUNIT: Binds DNA as a dimer and can form stable heterodimers with C/EBP delta.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines.
PTM: Phosphorylated.
SIMILARITY: Belongs to the bZIP family. C/EBP subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.
SEQUENCE CAUTION: Sequence=AAC51130.1; Type=Frameshift; Positions=4;
WEB RESOURCE: Name=CEBPEbase; Note=CEBPE mutation db; URL="http://bioinf.uta.fi/CEBPEbase/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CEBPE
Diseases sorted by gene-association score: specific granule deficiency* (928), neutrophil-specific granule deficiency* (769), b-cell childhood acute lymphoblastic leukemia (12), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.94 RPKM in Whole Blood
Total median expression: 8.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -51.70164-0.315 Picture PostScript Text
3' UTR -63.60181-0.351 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004827 - bZIP
IPR016468 - CCAAT/enhancer-binding

Pfam Domains:
PF07716 - Basic region leucine zipper

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3T92 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15744
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006909 phagocytosis
GO:0006952 defense response
GO:0010628 positive regulation of gene expression
GO:0030099 myeloid cell differentiation
GO:0030225 macrophage differentiation
GO:0030851 granulocyte differentiation
GO:0042089 cytokine biosynthetic process
GO:0042742 defense response to bacterium
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0071222 cellular response to lipopolysaccharide

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  U48866 - Human C/EBP epsilon (CEBPE) mRNA, partial cds.
BC035797 - Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon, mRNA (cDNA clone MGC:46225 IMAGE:5735297), complete cds.
EU831797 - Synthetic construct Homo sapiens clone HAIB:100066826; DKFZo008E0521 CCAAT/enhancer binding protein (C/EBP), epsilon protein (CEBPE) gene, encodes complete protein.
KJ890895 - Synthetic construct Homo sapiens clone ccsbBroadEn_00289 CEBPE gene, encodes complete protein.
EU831874 - Synthetic construct Homo sapiens clone HAIB:100066903; DKFZo004E0522 CCAAT/enhancer binding protein (C/EBP), epsilon protein (CEBPE) gene, encodes complete protein.
EU446853 - Synthetic construct Homo sapiens clone IMAGE:100070296; IMAGE:100012062; FLH258766.01L CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE) gene, encodes complete protein.
AB587592 - Synthetic construct DNA, clone: pF1KB8929, Homo sapiens CEBPE gene for CCAAT/enhancer binding protein (C/EBP), epsilon, without stop codon, in Flexi system.
CU690200 - Synthetic construct Homo sapiens gateway clone IMAGE:100021073 5' read CEBPE mRNA.
JD373164 - Sequence 354188 from Patent EP1572962.
JD384524 - Sequence 365548 from Patent EP1572962.
JD442190 - Sequence 423214 from Patent EP1572962.
JD228085 - Sequence 209109 from Patent EP1572962.
JD317975 - Sequence 298999 from Patent EP1572962.
JD097286 - Sequence 78310 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CEBPE_HUMAN, ENST00000206513.1, ENST00000206513.2, ENST00000206513.3, ENST00000206513.4, ENST00000206513.5, NM_001805, Q15744, Q15745, Q8IYI2, Q99803, uc001wiv.1, uc001wiv.2, uc001wiv.3, uc001wiv.4
UCSC ID: ENST00000206513.6
RefSeq Accession: NM_001805
Protein: Q15744 (aka CEBPE_HUMAN)
CCDS: CCDS9589.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.