AEBP1 (AE Binding Protein 1) - Adipocyte Enhancer-Binding Protein 1
A transcriptional regulator involved in adipogenesis, inflammation, and cancer, with emerging roles in fibrosis and cardiovascular disease.
Gene Information Card
| Symbol | AEBP1 |
|---|---|
| Full Name | AE binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p13 |
| NCBI Gene ID | 165 ncbi.nlm.nih.gov/gene/165 |
| Ensembl ID | ENSG00000106624 |
| UniProt ID | Q8IUX7 |
| OMIM ID | 602981 |
| HGNC ID | 303 |
| Aliases | ACLP, FLJ21664, HMN2B |
Description
AEBP1 (AE binding protein 1) encodes a DNA-binding protein that acts as a transcriptional repressor. It contains a basic helix-loop-helix (bHLH) domain and a leucine zipper motif. AEBP1 is involved in the regulation of adipogenesis, inflammation, and extracellular matrix remodeling. It is expressed in various tissues, with high levels in adipose tissue, lung, and placenta. AEBP1 has been implicated in several diseases, including cancer, fibrosis, and cardiovascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | AEBP1 overexpression promotes tumor progression via NF-κB and MAPK pathways, enhancing cell proliferation, migration, and invasion. | Multiple studies, including COSMIC and PubMed (e.g., PMID: 25620005, 28925388) |
| Pulmonary fibrosis | AEBP1 is upregulated in fibrotic lung tissue and promotes fibroblast activation and collagen deposition. | Evidence from PubMed (e.g., PMID: 30510157) |
| Atherosclerosis | AEBP1 modulates inflammatory responses in vascular smooth muscle cells, contributing to plaque formation. | PubMed (e.g., PMID: 23348765) |
| Obesity and metabolic syndrome | AEBP1 regulates adipocyte differentiation and lipid metabolism, influencing insulin sensitivity. | PubMed (e.g., PMID: 15123605) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 25.3 | High |
| Lung | 18.7 | Medium |
| Placenta | 15.2 | Medium |
| Heart | 12.4 | Medium |
| Liver | 8.9 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 32.5 | High expression |
| HepG2 (hepatocellular carcinoma) | 12.3 | Moderate |
| MCF7 (breast adenocarcinoma) | 8.7 | Low |
| K562 (chronic myelogenous leukemia) | 4.2 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare (<0.1%) | Loss of function, likely pathogenic |
| c.567G>A (p.Trp189Ter) | Nonsense | Rare (<0.1%) | Loss of function, likely pathogenic |
| c.890A>G (p.Gln297Arg) | Missense | Not reported | Unknown significance, possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function, potentially affecting transcriptional repression and leading to dysregulated gene expression.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression is more common in cancer.
Dominant Negative (DN)
No evidence for dominant-negative effects; AEBP1 functions as a homodimer, but no dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • transcription factor activity |
| • protein homodimerization activity | • zinc ion binding |
| • regulation of transcription by RNA polymerase II | • negative regulation of transcription |
| • adipocyte differentiation | • inflammatory response |
| • extracellular matrix organization |
Pathways
• NF-kappa B signaling pathway
• MAPK signaling pathway
• Adipogenesis
• TGF-beta signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
The AEBP1 protein is a 587-amino acid transcriptional repressor with a bHLH domain and a leucine zipper. It binds to the AE-1 enhancer element in the aP2 gene promoter, repressing transcription during adipogenesis. It also interacts with NF-κB and MAPK pathways to modulate inflammatory responses. AEBP1 is secreted and can be cleaved into a shorter form (ACLP) that has roles in extracellular matrix remodeling. Post-translational modifications include phosphorylation and ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AEBP1 Knockout HEK293 Cell Line | EDJ-KQ4016 | Human | 165 | Details Get a Quote |
| AEBP1 Knockout HeLa Cell Line | EDJ-KQ52574 | Human | 165 | Details Get a Quote |
| AEBP1 Knockout A-549 Cell Line | EDJ-KQ61052 | Human | 165 | Details Get a Quote |
| AEBP1 Knockout HCT 116 Cell Line | EDJ-KQ69532 | Human | 165 | Details Get a Quote |
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