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Aliases for CEBPA Gene

Aliases for CEBPA Gene

  • CCAAT/Enhancer Binding Protein (C/EBP), Alpha 2 3
  • CEBP 3 4 6
  • CCAAT/Enhancer-Binding Protein Alpha 3
  • C/EBP-Alpha 3
  • C/EBP Alpha 4

External Ids for CEBPA Gene

Previous Symbols for CEBPA Gene

  • CEBP

Summaries for CEBPA Gene

Entrez Gene Summary for CEBPA Gene

  • 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]

GeneCards Summary for CEBPA Gene

CEBPA (CCAAT/Enhancer Binding Protein (C/EBP), Alpha) is a Protein Coding gene. Diseases associated with CEBPA include familial acute myeloid leukemia with mutated cebpa and acute myeloid leukemia with cebpa somatic mutations. Among its related pathways are Pathways in cancer and L1CAM interactions. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is CEBPE.

UniProtKB/Swiss-Prot for CEBPA Gene

  • Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5-T[TG]NNGNAA[TG]-3 acting as an activator on distinct target genes (PubMed:11242107). During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity). Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage (By similarity). To regulate these different processes at the proper moment and tissue, interplays with other transcription factors and modulators. Downregulates the expression of genes that maintain cells in an undifferentiated and proliferative state through E2F1 repression, which is critical for its ability to induce adipocyte and granulocyte terminal differentiation. Reciprocally E2F1 blocks adipocyte differentiation by binding to specific promoters and repressing CEBPA binding to its target gene promoters. Proliferation arrest also depends on a functional binding to SWI/SNF complex (PubMed:14660596). In liver, regulates gluconeogenesis and lipogenesis through different mechanisms. To regulate gluconeogenesis, functionally cooperates with FOXO1 binding to IRE-controlled promoters and regulating the expression of target genes such as PCK1 or G6PC. To modulate lipogenesis, interacts and transcriptionally synergizes with SREBF1 in promoter activation of specific lipogenic target genes such as ACAS2. In adipose tissue, seems to act as FOXO1 coactivator accessing to ADIPOQ promoter through FOXO1 binding sites (By similarity).

  • Isoform 3: Can act as dominant-negative. Binds DNA and have transctivation activity, even if much less efficiently than isoform 2. Does not inhibit cell proliferation (PubMed:14660596).

  • Isoform 4: Directly and specifically enhances ribosomal DNA transcription interacting with RNA polymerase I-specific cofactors and inducing histone acetylation.

Gene Wiki entry for CEBPA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEBPA Gene

Genomics for CEBPA Gene

Genomic Location for CEBPA Gene

Start:
33,299,934 bp from pter
End:
33,302,564 bp from pter
Size:
2,631 bases
Orientation:
Minus strand

Genomic View for CEBPA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEBPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEBPA Gene

Regulatory Elements for CEBPA Gene

Proteins for CEBPA Gene

  • Protein details for CEBPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49715-CEBPA_HUMAN
    Recommended name:
    CCAAT/enhancer-binding protein alpha
    Protein Accession:
    P49715
    Secondary Accessions:
    • A7LNP2
    • P78319
    • Q05CA4

    Protein attributes for CEBPA Gene

    Size:
    358 amino acids
    Molecular mass:
    37561 Da
    Quaternary structure:
    • Binds DNA as a dimer and can form stable heterodimers with CEBPB and CEBPG (By similarity). Interacts with PRDM16 (By similarity). Interacts with UBN1 (PubMed:10725330). Interacts with ZNF638; this interaction increases transcriptional activation (By similarity). Interacts with the complex TFDP2:E2F1; the interaction prevents CEBPA binding to target gene promoters and represses its transcriptional activity (PubMed:20176812). Interacts with RB1 (PubMed:15107404). Interacts (when phosphorylated at SER-190) with CDK2, CDK4, E2F4 and SMARCA2 (PubMed:15107404). Interacts with SREBPF1 (By similarity). Interacts with FOXO1 (via the Fork-head domain); the interaction increases when FOXO1 is deacetylated (By similarity). Isoform 1 and isoform 4 interacts with TAF1A and UBTF (PubMed:20075868). Isoform 4 interacts with NPM1 (PubMed:20075868). Interacts with HBV protein X (PubMed:9915821).

    Alternative splice isoforms for CEBPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEBPA Gene

Proteomics data for CEBPA Gene at MOPED

Post-translational modifications for CEBPA Gene

  • Phosphorylation at Ser-190 is required for interaction with CDK2, CDK4 and SWI/SNF complex leading to cell cycle inhibiton. Dephosphorylated at Ser-190 by protein phosphatase 2A (PP2A) through PI3K/AKT signaling pathway regulation (PubMed:15107404). Phosphorylation at Thr-226 and Thr-230 by GSK3 is constitutive in adipose tissue and lung. In liver, both Thr-226 and Thr-230 are phosphorylated only during feeding but not during fasting. Phosphorylation of the GSK3 consensus sites selectively decreases transactivation activity on IRE-controlled promoters.
  • Sumoylated, sumoylation blocks the inhibitory effect on cell proliferation by disrupting the interaction with SMARCA2.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys161 and Lys313

Other Protein References for CEBPA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CEBPA Gene

Domains for CEBPA Gene

Gene Families for CEBPA Gene

HGNC:
  • bZIP :basic leucine zipper proteins

Protein Domains for CEBPA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEBPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49715

UniProtKB/Swiss-Prot:

CEBPA_HUMAN
Domain:
  • Contains 1 bZIP (basic-leucine zipper) domain.:
    • P49715
Family:
  • Belongs to the bZIP family. C/EBP subfamily.:
    • P49715
genes like me logo Genes that share domains with CEBPA: view

Function for CEBPA Gene

Molecular function for CEBPA Gene

GENATLAS Biochemistry: CCAAT enhancer binding protein alpha (C/EBP),expressed at highest level in placenta,also expressed in liver,lung,skeletal muscle,pancreas,colon,small intestine,peripheral lymphocytes,not expressed in preadipocytes,induced by CEBPB and CEBPD,coexpressed with and cross-regulated by PPARG,jointly required for full adipocyte differentiation,likely involved in adipocyte differentiation putative down regulated c-Myc target gene,
UniProtKB/Swiss-Prot Function: Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5-T[TG]NNGNAA[TG]-3 acting as an activator on distinct target genes (PubMed:11242107). During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity). Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage (By similarity). To regulate these different processes at the proper moment and tissue, interplays with other transcription factors and modulators. Downregulates the expression of genes that maintain cells in an undifferentiated and proliferative state through E2F1 repression, which is critical for its ability to induce adipocyte and granulocyte terminal differentiation. Reciprocally E2F1 blocks adipocyte differentiation by binding to specific promoters and repressing CEBPA binding to its target gene promoters. Proliferation arrest also depends on a functional binding to SWI/SNF complex (PubMed:14660596). In liver, regulates gluconeogenesis and lipogenesis through different mechanisms. To regulate gluconeogenesis, functionally cooperates with FOXO1 binding to IRE-controlled promoters and regulating the expression of target genes such as PCK1 or G6PC. To modulate lipogenesis, interacts and transcriptionally synergizes with SREBF1 in promoter activation of specific lipogenic target genes such as ACAS2. In adipose tissue, seems to act as FOXO1 coactivator accessing to ADIPOQ promoter through FOXO1 binding sites (By similarity).
UniProtKB/Swiss-Prot Function: Isoform 3: Can act as dominant-negative. Binds DNA and have transctivation activity, even if much less efficiently than isoform 2. Does not inhibit cell proliferation (PubMed:14660596).
UniProtKB/Swiss-Prot Function: Isoform 4: Directly and specifically enhances ribosomal DNA transcription interacting with RNA polymerase I-specific cofactors and inducing histone acetylation.

Gene Ontology (GO) - Molecular Function for CEBPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001013 RNA polymerase I regulatory region DNA binding IDA 20075868
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding TAS 8643605
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 11242107
genes like me logo Genes that share ontologies with CEBPA: view
genes like me logo Genes that share phenotypes with CEBPA: view

Animal Models for CEBPA Gene

MGI Knock Outs for CEBPA:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CEBPA Gene

Localization for CEBPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEBPA Gene

Nucleus.
Isoform 4: Nucleus, nucleolus.

Gene Ontology (GO) - Cellular Components for CEBPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 7575576
GO:0005667 transcription factor complex --
GO:0005730 nucleolus IDA 20075868
GO:0016363 nuclear matrix IEA --
GO:0035189 Rb-E2F complex IEA --
genes like me logo Genes that share ontologies with CEBPA: view

No data available for Subcellular locations from COMPARTMENTS for CEBPA Gene

Pathways for CEBPA Gene

genes like me logo Genes that share pathways with CEBPA: view

Gene Ontology (GO) - Biological Process for CEBPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle IEA --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001889 liver development ISS --
GO:0001892 embryonic placenta development IEA --
GO:0006091 generation of precursor metabolites and energy TAS 8643605
genes like me logo Genes that share ontologies with CEBPA: view

Compounds for CEBPA Gene

(13) Novoseek inferred chemical compound relationships for CEBPA Gene

Compound -log(P) Hits PubMed IDs
sterol 49.9 4
glycerol 3-phosphate 49.8 2
leucine 45.5 4
triacylglycerol 36.5 1
fatty acid 31.4 6
genes like me logo Genes that share compounds with CEBPA: view

Transcripts for CEBPA Gene

mRNA/cDNA for CEBPA Gene

Unigene Clusters for CEBPA Gene

CCAAT/enhancer binding protein (C/EBP), alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEBPA Gene

No ASD Table

Relevant External Links for CEBPA Gene

GeneLoc Exon Structure for
CEBPA
ECgene alternative splicing isoforms for
CEBPA

Expression for CEBPA Gene

mRNA expression in normal human tissues for CEBPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CEBPA Gene

This gene is overexpressed in Liver (7.6), Adipose - Subcutaneous (5.5), Skin - Not Sun Exposed (Suprapubic) (5.4), Adipose - Visceral (Omentum) (4.9), and Skin - Sun Exposed (Lower leg) (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CEBPA Gene

SOURCE GeneReport for Unigene cluster for CEBPA Gene Hs.76171

genes like me logo Genes that share expressions with CEBPA: view

No data available for mRNA Expression by UniProt/SwissProt for CEBPA Gene

Orthologs for CEBPA Gene

This gene was present in the common ancestor of animals.

Orthologs for CEBPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEBPA 35
  • 99.22 (n)
  • 99.2 (a)
CEBPA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEBPA 35
  • 93.77 (n)
  • 94.33 (a)
dog
(Canis familiaris)
Mammalia CEBPA 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cebpa 35
  • 92 (n)
  • 95.2 (a)
Cebpa 16
Cebpa 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEBPA 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEBPA 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cebpa 35
  • 91.9 (n)
  • 94.63 (a)
chicken
(Gallus gallus)
Aves CEBPA 35
  • 75.13 (n)
  • 66.77 (a)
EBP 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia cebpa-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cebpa 35
  • 65.32 (n)
  • 62.16 (a)
Str.15309 35
zebrafish
(Danio rerio)
Actinopterygii cebpa 35
  • 65.72 (n)
  • 61.21 (a)
cebpa 36
  • 65 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cebp-2 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for CEBPA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CEBPA Gene

ENSEMBL:
Gene Tree for CEBPA (if available)
TreeFam:
Gene Tree for CEBPA (if available)

Paralogs for CEBPA Gene

Paralogs for CEBPA Gene

Selected SIMAP similar genes for CEBPA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CEBPA: view

Variants for CEBPA Gene

Sequence variations from dbSNP and Humsavar for CEBPA Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs12691 -- 33,300,221(-) GACTC(C/T)CTTTC utr-variant-3-prime
rs707656 -- 33,300,623(-) AGTCA(C/G)ACCAG utr-variant-3-prime
rs2376497 -- 33,300,743(-) CGCCT(C/T)TCCCA utr-variant-3-prime
rs10403561 -- 33,299,596(+) GGCCT(A/G)CCCCT downstream-variant-500B
rs35196724 -- 33,300,022(-) AGGAC(C/G)GCTTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CEBPA Gene

Variant ID Type Subtype PubMed ID
nsv833808 CNV Loss 17160897
dgv3841n71 CNV Loss 21882294
nsv911593 CNV Loss 21882294
dgv3844n71 CNV Loss 21882294
dgv1073e1 CNV Complex 17122850
nsv2463 CNV Loss 18451855

Relevant External Links for CEBPA Gene

HapMap Linkage Disequilibrium report
CEBPA
Human Gene Mutation Database (HGMD)
CEBPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEBPA Gene

Disorders for CEBPA Gene

(1) OMIM Diseases for CEBPA Gene (116897)

UniProtKB/Swiss-Prot

CEBPA_HUMAN
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269 PubMed:11242107, ECO:0000269 PubMed:12661007, ECO:0000269 PubMed:15575056}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for CEBPA Gene

Disease -log(P) Hits PubMed IDs
leukemia 36.6 3
retinoblastoma 34.2 2
acute leukemia 28.4 1
obesity 22.2 1
tumors 4.73 6

Relevant External Links for CEBPA

Genetic Association Database (GAD)
CEBPA
Human Genome Epidemiology (HuGE) Navigator
CEBPA
genes like me logo Genes that share disorders with CEBPA: view

Publications for CEBPA Gene

  1. Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF). (PMID: 1535333) Szpirer C. … Szpirer J. (Genomics 1992) 2 3 23
  2. Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. (PMID: 11242107) Pabst T. … Tenen D.G. (Nat. Genet. 2001) 3 4 23
  3. Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA). (PMID: 12351377) Preudhomme C. … Dombret H. (Blood 2002) 3 23 48
  4. Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2. (PMID: 12661007) Snaddon J. … Fitzgibbon J. (Genes Chromosomes Cancer 2003) 3 4 23
  5. The CCAAT enhancer-binding protein alpha (C/EBPalpha) requires a SWI/SNF complex for proliferation arrest. (PMID: 14660596) MA1ller C. … Leutz A. (J. Biol. Chem. 2004) 3 4 23

Products for CEBPA Gene

  • Addgene plasmids for CEBPA

Sources for CEBPA Gene

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