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FLASH GENE
Symbol AEBP1 contributors: mct - updated : 22-05-2018
HGNC name AE binding protein 1
HGNC id 303
Corresponding disease
EDSOP Ehlers-Danlos syndrome with osteoporosis
Location 7p13      Physical location : 44.143.959 - 44.154.158
Synonym name
  • aortic carboxypeptidase-like-protein
  • adipocyte enhancer binding protein 1
  • Synonym symbol(s) ACLP, FLJ33612
    DNA
    TYPE functioning gene
    STRUCTURE 10.25 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 4102 - 1158 - 2012 22723309
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta    Homo sapiens
    Digestivesalivary gland   highly
    Nervousbrainlimbic systemhippocampus   Homo sapiens
    Skin/Tegumentskin   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveboneperiosteum highly Homo sapiensFetal
    Muscularsmooth    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervouspyramidal cell Homo sapiens
    not specificfibroblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal signal peptide
  • a lysine/proline/glutamic acid-rich motif,
  • a discoidin domain,
  • a catalytically inactive metallocarboxypeptidase domain that shares similarity with carboxypeptidase E (CPE)
  • HOMOLOGY
    interspecies homolog to murine Aebp1
    intraspecies homolog to AGTBP1
    Homologene
    FAMILY regulatory B-like CP family
    CATEGORY motor/contractile , transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • may play a role in differentiated vascular smooth muscle cells
  • down-regulator of adipogenesis through its transcriptional repression activity, as well as through its interaction with mitogen-activated protein kinase (MAPK), which protects MAPK from its specific phosphatases
  • is a transcriptional repressor that impedes macrophage cholesterol efflux, promoting foam cell formation, via PPARG and NR1H3 down-regulation
  • plays critical regulatory roles in macrophage cholesterol homeostasis, foam cell formation, and proinflammation
  • macrophage AEBP1 plays critical regulatory roles in atherogenesis
  • role of AEBP1 in the signaling pathways regulating the cross-talk between mammary epithelium and stroma that could predispose the mammary tissue to tumorigenesis
  • stimulates the fibroblast-to-myofibroblast transition by promoting smooth muscle alpha-actin (SMA) expression via TGFB1 signaling and promoting collagen expression through a TGFB1 receptor-independent pathway
  • activates inflammatory responses via the NFKB1 pathway in macrophages and regulates adipogenesis in preadipocytes
  • has a role in the progression of Alzheimer pathology
  • involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells
  • enhances collagen polymerization and binds to several fibrillar collagens via its discoidin domain
  • is likely involved in organization and remodeling of the ECM through direct binding of collagens and modulation of collagen fibrillogenesis
  • CELLULAR PROCESS nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text bone development maintenance
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to a regulatory sequence, adipocyte enhancer 1 (AE1), located in the proximal promoter region of the adipose P2 (aP2) gene, which encodes the adipocyte fatty-acid binding protein
  • with MAPK (interaction enhances and subsequent phosphorylation decreases the DNA-binding ability of AEBP1)
  • negatively regulates adipose tissue PTEN levels, in conjunction with its role in proliferation and differentiation of pre-adipocytes, as a key functional role in modulation of adiposity
  • regulatory functions of AEBP1 on PPARG1 and NR1H3 transcriptional activity in the context of macrophage cholesterol homeostasis and inflammation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EDSOP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the pyramidal neurons and some astrocytes in Alzheimer disease hippocampi
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerskin 
    may represent a novel therapeutic target for treating BRAF inhibitor-resistant melanoma
    cardiovascularatheroma 
    may serve as a potential therapeutic target for the prevention or treatment of atherosclerosis
    ANIMAL & CELL MODELS
  • Aebp1-/- mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation
  • Aclp knockout mice are significantly protected from bleomycin-induced fibrosis
  • Aebp1-null mice are also resistant to diet-induced obesity, suggesting a regulatory role for AEBP1 in energy homeostasis