CEBPA CCAAT enhancer binding protein alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEBPAprovided by HGNC
Official Full Name: CCAAT enhancer binding protein alphaprovided by HGNC
Primary source: HGNC:HGNC:1833
See related: Ensembl:ENSG00000245848 MIM:116897; AllianceGenome:HGNC:1833
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CEBP; C/EBP-alpha
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 19q13.11

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (33299934..33302534, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (35819706..35822306, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (33790840..33793440, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CEBPA double mutations associated with ABO antigen weakness in hematologic diseases.
Title: CEBPA double mutations associated with ABO antigen weakness in hematologic diseases.
Clinical features and management of germline CEBPA-mutated carriers.
Title: Clinical features and management of germline CEBPA-mutated carriers.
C/EBPalpha-p30 confers AML cell susceptibility to the terminal unfolded protein response and resistance to Venetoclax by activating DDIT3 transcription.
Title: C/EBPα-p30 confers AML cell susceptibility to the terminal unfolded protein response and resistance to Venetoclax by activating DDIT3 transcription.
C/EBPalpha mediates the maturation and antitumor functions of macrophages in human hepatocellular carcinoma.
Title: C/EBPα mediates the maturation and antitumor functions of macrophages in human hepatocellular carcinoma.
A blastic plasmacytoid dendritic cell neoplasm-like immunophenotype is negatively associated with CEBPA bZIP mutation and predicts unfavorable prognosis in acute myeloid leukemia.
Title: A blastic plasmacytoid dendritic cell neoplasm-like immunophenotype is negatively associated with CEBPA bZIP mutation and predicts unfavorable prognosis in acute myeloid leukemia.
The Role of DNMT1 and C/EBPalpha in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.
Title: The Role of DNMT1 and C/EBPα in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.
AML with CEBPA mutations: A comparison of ICC and WHO-HAEM5 criteria in patients with 20% or more blasts.
Title: AML with CEBPA mutations: A comparison of ICC and WHO-HAEM5 criteria in patients with 20% or more blasts.
Homodimer-mediated phosphorylation of C/EBPalpha-p42 S16 modulates acute myeloid leukaemia differentiation through liquid-liquid phase separation.
Title: Homodimer-mediated phosphorylation of C/EBPα-p42 S16 modulates acute myeloid leukaemia differentiation through liquid-liquid phase separation.
Immunophenotype distinctions of CEBPA mutation subtypes in acute myeloid leukemia.
Title: Immunophenotype distinctions of CEBPA mutation subtypes in acute myeloid leukemia.
C/ebpalpha represses the oncogenic Runx3-Myc axis in p53-deficient osteosarcoma development.
Title: C/ebpα represses the oncogenic Runx3-Myc axis in p53-deficient osteosarcoma development.

Submit: New GeneRIF Correction See all GeneRIFs (420)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2022-06-09) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2022-06-09) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection increases basal mRNA levels of JUN, IL6, STAT1, CEBPA, RELA, and CEBPG in monocyte derived macrophages	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of CCAAT/enhancer binding protein (C/EBP), alpha (CEBPA) in peptide-treated PBMCs	PubMed
Nef	nef	Knockdown of C/EBPalpha, C/EBPgamma, and AP-1 by siRNA shows significant reduction of CCL5 levels, suggesting that C/EBPalpha, C/EBPgamma, and AP-1 proteins are involved in Nef-mediated upregulation of CCL5	PubMed
Tat	tat	HIV-1 Tat-mediated upregulation of CCL5 involves JAK2/3, AKT2/3, p38delta, NF-kappaB (p65/p50), C/EBP alpha/gamma, and AP-1 proteins	PubMed
	tat	Specific C/EBP and NF-kappaB transcription factor binding elements within the IL-1beta promoter are involved in Tat regulation of IL-1beta production	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:485918

A002S24 (e-PCR)
- UniSTS:35898

CEBPA_537 (e-PCR)
- UniSTS:277093

SHGC-35476 (e-PCR)
- UniSTS:15241

RH64933 (e-PCR)
- UniSTS:6031

NoName (e-PCR)
- UniSTS:481683

Cebpa (e-PCR), detects polymorphism
- UniSTS:516500

Cebpa (e-PCR), detects polymorphism
- UniSTS:527283

WI-16546 (e-PCR)
- UniSTS:45508

STS-T52003 (e-PCR)
- UniSTS:70876

STS-X87248 (e-PCR)
- UniSTS:34799

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables STAT family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lithium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in embryonic placenta development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell maturation	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in granulocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in integrated stress response signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in interleukin-6-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in liver development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung development	ISS Inferred from Sequence or Structural Similarity more info
involved_in macrophage differentiation	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in myeloid cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in myeloid cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of macrophage activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in urea cycle	IEA Inferred from Electronic Annotation more info
involved_in white fat cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of C/EBP complex	IPI Inferred from Physical Interaction more info	PubMed
part_of CHOP-C/EBP complex	IPI Inferred from Physical Interaction more info	PubMed
part_of RNA polymerase II transcription regulator complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of RNA polymerase II transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: CCAAT/enhancer-binding protein alpha

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012022.1 RefSeqGene

Range

4961..7591

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_456

mRNA and Protein(s)

NM_001285829.2 → NP_001272758.1 CCAAT/enhancer-binding protein alpha isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (1) can initiate translation from an upstream non-AUG (GUG) site, and also from three downstream, in-frame AUG sites. The isoform (b, also known as C/EBP-30) represented in this RefSeq results from translation initiation at the third AUG start codon. Isoform b has a shorter N-terminus, compared to isoform c.

Source sequence(s)

AC008738

UniProtKB/Swiss-Prot

P49715

Conserved Domains (1) summary

cd14711
Location:161 → 221

bZIP_CEBPA; Basic leucine zipper (bZIP) domain of CCAAT/enhancer-binding protein alpha (CEBPA): a DNA-binding and dimerization domain
NM_001287424.2 → NP_001274353.1 CCAAT/enhancer-binding protein alpha isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (1) can initiate translation from an upstream non-AUG (GUG) site, and also from three downstream, in-frame AUG sites. The isoform (c, also known as extended) represented in this RefSeq results from translation initiation at the upstream GUG start codon. Isoform c is the longest isoform.

Source sequence(s)

AC008738

UniProtKB/Swiss-Prot

P49715

Conserved Domains (1) summary

cd14711
Location:315 → 375

bZIP_CEBPA; Basic leucine zipper (bZIP) domain of CCAAT/enhancer-binding protein alpha (CEBPA): a DNA-binding and dimerization domain
NM_001287435.2 → NP_001274364.1 CCAAT/enhancer-binding protein alpha isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (1) can initiate translation from an upstream non-AUG (GUG) site, and also from three downstream, in-frame AUG sites. The isoform (d) represented in this RefSeq results from translation initiation at the second AUG start codon. Isoform d has a shorter N-terminus, compared to isoform c.

Source sequence(s)

AC008738

UniProtKB/Swiss-Prot

P49715

Conserved Domains (1) summary

cd14711
Location:266 → 326

bZIP_CEBPA; Basic leucine zipper (bZIP) domain of CCAAT/enhancer-binding protein alpha (CEBPA): a DNA-binding and dimerization domain
NM_004364.5 → NP_004355.2 CCAAT/enhancer-binding protein alpha isoform a

See identical proteins and their annotated locations for NP_004355.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) can initiate translation from an upstream non-AUG (GUG) site, and also from three downstream, in-frame AUG sites. The isoform (a, also known as C/EBP-42) represented in this RefSeq results from translation initiation at the first AUG start codon. Isoform a has a shorter N-terminus, compared to isoform c.

Source sequence(s)

AC008738

Consensus CDS

CCDS54243.1

UniProtKB/Swiss-Prot

A7LNP2, P49715, P78319, Q05CA4

Related

ENSP00000427514.1, ENST00000498907.3

Conserved Domains (1) summary

cd14711
Location:280 → 340

bZIP_CEBPA; Basic leucine zipper (bZIP) domain of CCAAT/enhancer-binding protein alpha (CEBPA): a DNA-binding and dimerization domain