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Aliases for CEBPA Gene

Aliases for CEBPA Gene

  • CCAAT/Enhancer Binding Protein Alpha 2 3
  • CCAAT/Enhancer Binding Protein (C/EBP), Alpha 2 3 5
  • CEBP 3 4
  • C/EBP-Alpha 3
  • C/EBP Alpha 4

External Ids for CEBPA Gene

Previous HGNC Symbols for CEBPA Gene

  • CEBP

Previous GeneCards Identifiers for CEBPA Gene

  • GC19M034408
  • GC19M034239
  • GC19M038466
  • GC19M038482
  • GC19M033790
  • GC19M030291

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 Alpha) is a Protein Coding gene. Diseases associated with CEBPA include Leukemia, Acute Myeloid and Acute Myeloid Leukemia With Cebpa Somatic Mutations. Among its related pathways are Glucose / Energy Metabolism and Development_Leptin signaling via PI3K-dependent pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Regulatory Elements for CEBPA Gene

Enhancers for CEBPA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CEBPA on UCSC Golden Path with GeneCards custom track

Promoters for CEBPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEBPA on UCSC Golden Path with GeneCards custom track

Genomic Location for CEBPA Gene

Chromosome:
19
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

Genes around CEBPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEBPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEBPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 homodimer and as a heterodimer. Can form stable heterodimers with CEBPB, CEBPD, CEBPE 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.
  • Ubiquitination at Lys 161 and Lys 313
  • Modification sites at PhosphoSitePlus

Other Protein References for CEBPA Gene

No data available for DME Specific Peptides for CEBPA Gene

Domains & Families for CEBPA Gene

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 :
  • Contains 1 bZIP (basic-leucine zipper) domain.
  • Belongs to the bZIP family. C/EBP subfamily.
Domain:
  • Contains 1 bZIP (basic-leucine zipper) domain.
Family:
  • Belongs to the bZIP family. C/EBP subfamily.
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:0044212 transcription regulatory region DNA binding IEA,IDA 12695546
genes like me logo Genes that share ontologies with CEBPA: view
genes like me logo Genes that share phenotypes with CEBPA: view

Human Phenotype Ontology for CEBPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEBPA Gene

MGI Knock Outs for CEBPA:

Animal Model Products

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

Localization for CEBPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEBPA Gene

Nucleus.
Isoform 4: Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEBPA Gene COMPARTMENTS Subcellular localization image for CEBPA gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
peroxisome 2
endoplasmic reticulum 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CEBPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090575 RNA polymerase II transcription factor complex IMP 16946298
genes like me logo Genes that share ontologies with CEBPA: view

Pathways & Interactions for CEBPA Gene

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

SIGNOR curated interactions for CEBPA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CEBPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle IEA --
GO:0001892 embryonic placenta development IEA --
GO:0006091 generation of precursor metabolites and energy TAS 8643605
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with CEBPA: view

Drugs & Compounds for CEBPA Gene

(4) Drugs for CEBPA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for CEBPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x7.6), Adipose - Subcutaneous (x5.5), Skin - Not Sun Exposed (Suprapubic) (x5.4), Adipose - Visceral (Omentum) (x4.9), and Skin - Sun Exposed (Lower leg) (x4.8).

Protein differential expression in normal tissues from HIPED for CEBPA Gene

This gene is overexpressed in Placenta (37.1), Liver (23.2), and Fetal gut (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CEBPA: view

Protein tissue co-expression partners for CEBPA Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia CEBPA 35
  • 93.77 (n)
  • 94.33 (a)
mouse
(Mus musculus)
Mammalia Cebpa 35
  • 92 (n)
  • 95.2 (a)
Cebpa 16
Cebpa 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEBPA 35
  • 99.22 (n)
  • 99.2 (a)
CEBPA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cebpa 35
  • 91.9 (n)
  • 94.63 (a)
dog
(Canis familiaris)
Mammalia CEBPA 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEBPA 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEBPA 36
  • 69 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia cebpa 35
  • 65.32 (n)
  • 62.16 (a)
Str.15309 35
African clawed frog
(Xenopus laevis)
Amphibia cebpa-prov 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

(1) 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
VAR_072677 Leukemia, acute myelogenous (AML)
rs72291806 -- 33,299,919(+) GTTTT(-/AA)AAAGA downstream-variant-500B
rs34017519 -- 33,300,305(-) TTATT(C/T)GGTTT utr-variant-3-prime
rs74708965 -- 33,299,698(+) CCCCA(A/G)GAGAC downstream-variant-500B
rs10403561 -- 33,299,596(+) GGCCT(A/G)CCCCT downstream-variant-500B

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

Variation tolerance for CEBPA Gene

Gene Damage Index Score: 0.33; 7.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEBPA Gene

Human Gene Mutation Database (HGMD)
CEBPA

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

Disorders for CEBPA Gene

MalaCards: The human disease database

(14) MalaCards diseases for CEBPA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
acute myeloid leukemia with cebpa somatic mutations
  • aml with cebpa somatic mutations
inherited acute myeloid leukemia
  • familial aml
acute myeloid leukemia, flt3-related
  • leukemia, acute myeloid
acute myeloblastic leukemia with maturation
  • acute myeloid leukemia
- elite association - COSMIC cancer census association via MalaCards
Search CEBPA in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CEBPA

Genetic Association Database (GAD)
CEBPA
Human Genome Epidemiology (HuGE) Navigator
CEBPA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEBPA
genes like me logo Genes that share disorders with CEBPA: view

No data available for Genatlas for CEBPA Gene

Publications for CEBPA Gene

  1. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. (PMID: 18768433) Pabst T. … Mueller B.U. (J. Clin. Oncol. 2008) 3 23 48 67
  2. 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
  3. CCAAT/enhancer-binding protein alpha (CEBPA) polymorphisms and mutations in healthy individuals and in patients with peripheral artery disease, ischaemic heart disease and hyperlipidaemia. (PMID: 20492756) Fuchs O. … Chochola M. (Folia Biol. (Praha) 2010) 3 23
  4. Identification of a novel distal enhancer in human adiponectin gene. (PMID: 18931025) Segawa K. … Shimomura I. (J. Endocrinol. 2009) 3 23
  5. CCAAT enhancer-binding protein alpha is a molecular target of 1,25-dihydroxyvitamin D3 in MCF-7 breast cancer cells. (PMID: 19054766) Dhawan P. … Christakos S. (J. Biol. Chem. 2009) 3 23

Products for CEBPA Gene

Sources for CEBPA Gene

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