Human Gene CEBPA (ENST00000498907.3) from GENCODE V44
  Description: Homo sapiens CCAAT enhancer binding protein alpha (CEBPA), transcript variant 1, mRNA. (from RefSeq NM_004364)
RefSeq Summary (NM_004364): This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013].
Gencode Transcript: ENST00000498907.3
Gencode Gene: ENSG00000245848.3
Transcript (Including UTRs)
   Position: hg38 chr19:33,299,934-33,302,534 Size: 2,601 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg38 chr19:33,301,338-33,302,414 Size: 1,077 Coding Exon Count: 1 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:33,299,934-33,302,534)mRNA (may differ from genome)Protein (358 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CEBPA_HUMAN
DESCRIPTION: RecName: Full=CCAAT/enhancer-binding protein alpha; Short=C/EBP alpha;
FUNCTION: C/EBP is a DNA-binding protein that recognizes two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers.
SUBUNIT: Interacts with PRDM16 (By similarity). Binds DNA as a dimer and can form stable heterodimers with C/EBP beta and gamma. Interacts with UBN1. Interacts with HBV protein X. Interacts with ZNF638; this interaction increases transcriptional activation (By similarity).
INTERACTION: P09874:PARP1; NbExp=2; IntAct=EBI-1172054, EBI-355676;
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Belongs to the bZIP family. C/EBP subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CEBPAID40050ch19q13.html";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cebpa/";

-  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: CEBPA
Diseases sorted by gene-association score: leukemia, acute myeloid* (1626), acute myeloid leukemia, flt3-related* (126), familial acute myeloid leukemia with mutated cebpa* (100), acute myeloid leukemia with t(8;21)(q22;q22) translocation* (12), leukemia (12), acute leukemia (12), cytogenetically normal acute myeloid leukemia (8), myeloid leukemia (8), pulmonary immaturity (6), core binding factor acute myeloid leukemia (6), obesity (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: 94.96 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 706.37 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 -69.80120-0.582 Picture PostScript Text
3' UTR -614.601404-0.438 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

ModBase Predicted Comparative 3D Structure on P49715
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  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:0001013 RNA polymerase I regulatory region DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019900 kinase binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0000050 urea cycle
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001889 liver development
GO:0001892 embryonic placenta development
GO:0006091 generation of precursor metabolites and energy
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006360 transcription from RNA polymerase I promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007005 mitochondrion organization
GO:0007219 Notch signaling pathway
GO:0007275 multicellular organism development
GO:0008203 cholesterol metabolic process
GO:0008285 negative regulation of cell proliferation
GO:0016032 viral process
GO:0019221 cytokine-mediated signaling pathway
GO:0030099 myeloid cell differentiation
GO:0030225 macrophage differentiation
GO:0030324 lung development
GO:0030851 granulocyte differentiation
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0042127 regulation of cell proliferation
GO:0042593 glucose homeostasis
GO:0045444 fat cell differentiation
GO:0045600 positive regulation of fat cell differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045786 negative regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0045945 positive regulation of transcription from RNA polymerase III promoter
GO:0048469 cell maturation
GO:0048839 inner ear development
GO:0050872 white fat cell differentiation
GO:0050873 brown fat cell differentiation
GO:0055088 lipid homeostasis
GO:0071285 cellular response to lithium ion
GO:0071356 cellular response to tumor necrosis factor
GO:0071407 cellular response to organic cyclic compound
GO:2000144 positive regulation of DNA-templated transcription, initiation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005730 nucleolus
GO:0043231 intracellular membrane-bounded organelle
GO:0090575 RNA polymerase II transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  LF213916 - JP 2014500723-A/21419: Polycomb-Associated Non-Coding RNAs.
MA449493 - JP 2018138019-A/21419: Polycomb-Associated Non-Coding RNAs.
LF207621 - JP 2014500723-A/15124: Polycomb-Associated Non-Coding RNAs.
MA443198 - JP 2018138019-A/15124: Polycomb-Associated Non-Coding RNAs.
BC063874 - Homo sapiens CCAAT/enhancer binding protein (C/EBP), alpha, mRNA (cDNA clone IMAGE:30407360), complete cds.
X87248 - H.sapiens mRNA for HP8 protein.
Y11525 - H.sapiens mRNA for CCAAT/enhancer binding protein alpha.
JD095458 - Sequence 76482 from Patent EP1572962.
JD192839 - Sequence 173863 from Patent EP1572962.
JD401311 - Sequence 382335 from Patent EP1572962.
JD157109 - Sequence 138133 from Patent EP1572962.
JD167396 - Sequence 148420 from Patent EP1572962.
JD485284 - Sequence 466308 from Patent EP1572962.
JD396593 - Sequence 377617 from Patent EP1572962.
JD188501 - Sequence 169525 from Patent EP1572962.
JD056897 - Sequence 37921 from Patent EP1572962.
JD106254 - Sequence 87278 from Patent EP1572962.
LF212102 - JP 2014500723-A/19605: Polycomb-Associated Non-Coding RNAs.
MA447679 - JP 2018138019-A/19605: Polycomb-Associated Non-Coding RNAs.
JD279130 - Sequence 260154 from Patent EP1572962.
JD280914 - Sequence 261938 from Patent EP1572962.
JD356190 - Sequence 337214 from Patent EP1572962.
JD146705 - Sequence 127729 from Patent EP1572962.
LF213080 - JP 2014500723-A/20583: Polycomb-Associated Non-Coding RNAs.
MA448657 - JP 2018138019-A/20583: Polycomb-Associated Non-Coding RNAs.
JD416990 - Sequence 398014 from Patent EP1572962.
JD398195 - Sequence 379219 from Patent EP1572962.
JD087659 - Sequence 68683 from Patent EP1572962.
JD242070 - Sequence 223094 from Patent EP1572962.
JD383680 - Sequence 364704 from Patent EP1572962.
JD383452 - Sequence 364476 from Patent EP1572962.
JD383679 - Sequence 364703 from Patent EP1572962.
JD445851 - Sequence 426875 from Patent EP1572962.
JD389200 - Sequence 370224 from Patent EP1572962.
JD447406 - Sequence 428430 from Patent EP1572962.
JD307331 - Sequence 288355 from Patent EP1572962.
LF367535 - JP 2014500723-A/175038: Polycomb-Associated Non-Coding RNAs.
MA603112 - JP 2018138019-A/175038: Polycomb-Associated Non-Coding RNAs.
JD076614 - Sequence 57638 from Patent EP1572962.
JD196343 - Sequence 177367 from Patent EP1572962.
JD222255 - Sequence 203279 from Patent EP1572962.
JD254518 - Sequence 235542 from Patent EP1572962.
JD520604 - Sequence 501628 from Patent EP1572962.
JD470647 - Sequence 451671 from Patent EP1572962.
BC160133 - Synthetic construct Homo sapiens clone IMAGE:100064165, MGC:193248 CCAAT/enhancer binding protein (C/EBP), alpha (CEBPA) mRNA, encodes complete protein.
AB590467 - Synthetic construct DNA, clone: pFN21AE1842, Homo sapiens CEBPA gene for CCAAT/enhancer binding protein (C/EBP), alpha, without stop codon, in Flexi system.
BC027902 - Homo sapiens CCAAT/enhancer binding protein (C/EBP), alpha, mRNA (cDNA clone IMAGE:5228934), partial cds.
LF367534 - JP 2014500723-A/175037: Polycomb-Associated Non-Coding RNAs.
MA603111 - JP 2018138019-A/175037: Polycomb-Associated Non-Coding RNAs.
DD153948 - New method.
DD153949 - New method.
JD216909 - Sequence 197933 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05200 - Pathways in cancer
hsa05221 - Acute myeloid leukemia

BioCarta from NCI Cancer Genome Anatomy Project
h_mapkPathway - MAPKinase Signaling Pathway
h_keratinocytePathway - Keratinocyte Differentiation

Reactome (by CSHL, EBI, and GO)

Protein P49715 (Reactome details) participates in the following event(s):

R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A7LNP2, CEBPA_HUMAN, ENST00000498907.1, ENST00000498907.2, NM_004364, P49715, P78319, Q05CA4, uc002nun.1, uc002nun.2, uc002nun.3, uc002nun.4, uc002nun.5
UCSC ID: ENST00000498907.3
RefSeq Accession: NM_004364
Protein: P49715 (aka CEBPA_HUMAN)
CCDS: CCDS54243.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CEBPA:
cebpa-aml (CEBPA-Associated Familial Acute Myeloid Leukemia (AML))

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