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Symbol AHR contributors: mct/npt/pgu - updated : 19-06-2018
HGNC name aryl hydrocarbon receptor
HGNC id 348
Corresponding disease
RP85 retinitis pigmentosa 85
Location 7p21.1      Physical location : 17.338.275 - 17.385.775
Synonym name
  • aromatic hydrocarbon receptor
  • AH-receptor
  • Synonym symbol(s) bHLHe76
    TYPE functioning gene
    STRUCTURE 47.47 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure involvement of Sp1 binding site in AHR gene regulation.
    MAPPING cloned Y linked N status confirmed
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 5827 96.1 848 - 2009 19592671
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
    Lymphoid/Immunethymus   highly
    Nervousnerve   highly
    Reproductivemale systemmale genital tractepididymis highly Homo sapiens
    Skin/Tegumentskin   highly Homo sapiens
    Urinarybladder   highly
    Visualeyeretina    Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • basic helix-loop-helix (bHLH)
  • a stretch of approximately 300 AA, termed the PAS (Per - ARNT - Sim) domain
    FAMILY basic helix-loop-helix/PER-ARNT-SIM family
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • retained in cytoplasm in resting state in association with HSP90, and with AIP (AH receptor associated protein 9)
  • released after exposure to xenobiotics
  • ligand-activated transcription factor, mediating xenobiotic signaling to enhance the expression of target genes, including drug-metabolizing cytochrome P450s
  • involved in xenobiotic induced regulation of the UGT1A3
  • having a proproliferative, antiapoptotic function that likely plays a role in tumor progression
  • mediates most, if not all, of the many toxicological effects of the environmental pollutant 2,3,7,8-tetrachlorodibenzo- p-dioxin [(TCDD) or dioxin
  • its activation inhibits differentiation of human monocytes and Langerhans dendritic cells
  • plays an essential role in the toxic response to environmental pollutants
  • modulates expression of human MT2A via the glucocorticoid response element and protein-protein interactions with glucocorticoid receptor (GR)
  • HSP90AA1 was co-localized with AHR after the nuclear translocation
  • in osteoclast lineage cells are a negative regulator of bone mass
  • regulatory role of AHR in not only adaptive but also innate lymphocytes including recently discovered innate lymphoid cells
  • role of AHR signaling in the gene regulation of epidermal barrier proteins
  • modulates the degradation of proteins involved in cell cycle control, consistent with previous reports demonstrating an essential role of the AHR in cell cycle regulation
  • plays an important role in the pathogenesis of retinal diseases including age-related macular degeneration
  • untimely expression of the Ahr gene needs to be repressed to maintain ES cell mitotic progression and prevent premature loss of pluripotency
  • functional AHR expression is critical for skin barrier integrity and that AHR represents a molecular target for the development of therapeutic approaches for skin barrier diseases, including by dietary intervention
  • is a transcription factor modulated by exogenous and endogenous ligands that is important in the homeostasis of immune cells at barrier sites, such as the skin and gut
  • protective role of the AHR against carcinogenesis and oxidative stress because causal role of the AHR in the antioxidant response
  • is required for optimal B-cell proliferation
  • recognizes xenobiotics as well as natural compounds such as tryptophan metabolites, dietary components and microbiota-derived factors, and it is important for maintenance of homeostasis at mucosal surfaces
  • AHR-induced inhibition that influences circadian rhythm amplitude
  • ligand-activated transcription factor that is known as a mediator of toxic responses
  • plays an important physiological role in hematopoiesis
  • regulates early human hemato-lymphoid cell development and may be targeted to enhance production of specific cell populations derived from human pluripotent stem cells
  • ligand-activated transcription factor whose activity is regulated by small molecules provided by the diet, the commensal flora, environmental pollutants and the metabolism
  • potential role for the larger AHR pathway in melanoma risk
    a component
  • dimerizing with ARNT for inhibition of estrogen action and translocated to the nucleus interacting with pRB1 to induce G1 arrest
  • AHR-ARNT dimer specifically associates with the enhancer regions of dioxin-responsive genes, leading to their increased transcription
    small molecule
  • participated in SNAI2 induction, which, in turn, regulates cellular physiology including cell adhesion and migration
  • interacting with NCOA4 (NCOA4-facilitation of AHR activity was abolished by overexpression of AR, suggesting a potential competition of AHR and AR for NCOA4)
  • AHR paradoxically regulates IGFBP1 and LPL expressions in the liver
  • binds to E2F1 and inhibits E2F1-induced apoptosis
  • bound to MAF and promoted transactivation of the IL10 and IL21 promoters, which resulted in the generation of Type 1 regulatory T cells (TR1)
  • expression of AIP in hepatocytes is essential to maintain high levels of functional cytosolic AHR protein in the mammalian liver, and expression of the AIP protein is essential for dioxin-induced hepatotoxicity
  • VAV3, an activator of Rho/Rac GTPases, is an AHR transcriptional target in embryonic fibroblasts
  • CCNG2 is an AHR target gene
  • FOXA1, but not ESR1, is essential for AHR-dependent regulation of CCNG2, assigning a role for FOXA1 in AHR action
  • STC2 gene expression is refractory to classic exogenous AHR agonists, but responds to cellular stress in an AHR-dependent mechanism consistent with a process promoting cell survival
  • AHR was recruited to the glucocorticoid response element in the MT2A promoter
  • LHCGR signaling in regulating the AHR message involves protein kinase A pathway and is attributable to decreased transcription rate
  • critical link between AHR and IDO1 in the development of regulatory T cells and Th17 cells, which are key factors in a variety of human autoimmune diseases
  • biphasic role of NCOA2 between AHR and hypoxic conditions, thus providing a novel mechanism underlying the cross talk between AHR and hypoxia that affects disease development and progression
  • transcription factor that mediates the effects of xenobiotics implicated in carcinogenesis
  • DLX3 is a positive regulator of the aryl hydrocarbon receptor
  • MAGED1 binds and positively regulates the transcriptional activity of family members SIM1, SIM2, NPAS4 and ARNT2, but does not interact with AHR, HIF1A and ARNT
  • ARNT plays an important role in the modulation of the dual functions of the AHR
  • cross-talk between NR1I2 and AHR plays a role in the regulation of CYP3A4 gene expression
  • upon activation, AHR translocates to the nucleus and forms a complex with aryl hydrocarbon receptor nuclear translocator (ARNT), which binds to a DNA recognition sequence and initiates gene transcription
  • cell & other
    activated by is activated in response to a number of environmental factors, including dioxins and UVR
    induced by DLX3 (induces AHR promoter activity by binding to a regulatory region that resides ~5.5 kb upstream of the transcriptional start site)
    repressed by EGF (repression of aryl hydrocarbon receptor transcriptional activity by epidermal growth factor)
    Other regulated by NFE2L2 (directly modulates AHR signaling, highlighting bidirectional interactions of these pathways)
    corresponding disease(s) RP85
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of AHR mRNA and protein expression is associated with the pathogenesis of unexplained miscarriage
    constitutional       loss of function
    alters macrophage polarization when compared to WT macrophage
    Susceptibility to primary melanoma
    Variant & Polymorphism other
  • rs117132860, located within a melanocyte enhancer and displays allele-specific cis-regulatory activity, and is associated with primary melanoma
  • Candidate gene
    Therapy target
    manipulating AHR signaling could be beneficial in the resolution of excessive inflammatory responses
    importance of AHR antagonists as potential sensitizers for melanoma target therapy
  • presence of sympathoexcitation and new cardiorespiratory defects in Ahr(-/-) mice