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
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/";
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.
Pfam Domains: PF07716 - Basic region leucine zipper
ModBase Predicted Comparative 3D Structure on P49715
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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.
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