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    AHR aryl hydrocarbon receptor [ Homo sapiens (human) ]

    Gene ID: 196, updated on 7-Oct-2018

    Summary

    Official Symbol
    AHRprovided by HGNC
    Official Full Name
    aryl hydrocarbon receptorprovided by HGNC
    Primary source
    HGNC:HGNC:348
    See related
    Ensembl:ENSG00000106546 MIM:600253; Vega:OTTHUMG00000149967
    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
    bHLHe76
    Summary
    The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 37.2), gall bladder (RPKM 28.4) and 24 other tissues See more
    Orthologs

    Genomic context

    See AHR in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (17298652..17346151)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (17338276..17385775)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375170 Neighboring gene bromodomain and WD repeat domain containing 1 pseudogene 3 Neighboring gene uncharacterized LOC107986772 Neighboring gene uncharacterized LOC101927609 Neighboring gene uncharacterized LOC105375171 Neighboring gene renal clear cell carcinoma-associated transcript 333 Neighboring gene uncharacterized LOC105375172

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog
    Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif interacts with AHR; predicted interaction to be relevant to gene regulation PubMed
    Vpr vpr HIV-1 Vpr-induced chromatin recruitment of open reading frame-1 (ORF1) encoding protein is dependent on AhR during the retrotransposition of long interspersed element-1 PubMed
    vpr HIV-1 Vpr-induced retrotransposition of long interspersed element-1 depends on an AhR-MAPK/p38-C/EBP-beta cascade via the LQQLL motif of Vpr PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Aryl Hydrocarbon Receptor, organism-specific biosystem (from WikiPathways)
      Aryl Hydrocarbon Receptor, organism-specific biosystemThe Aryl Hydrocarbon receptor (AhR) is ligand activated transcription factor that regulates wide spectrum of gene expression. The main mediator of AhR is 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) or...
    • Aryl Hydrocarbon Receptor Pathway, organism-specific biosystem (from WikiPathways)
      Aryl Hydrocarbon Receptor Pathway, organism-specific biosystemThe aryl hydrocarbon receptor (AhR) is a transcription factor (part of the group of nuclear receptors) that responds to the presence of aromatic hydrocarbons. It regulates genes involved xenobiotic m...
    • Aryl hydrocarbon receptor signalling, organism-specific biosystem (from REACTOME)
      Aryl hydrocarbon receptor signalling, organism-specific biosystemThe aryl hydrocarbon receptor (AHR) is a ligand-activated transcription factor that belongs to the basic helix-loop-helix/PER-ARNT-SIM family of DNA binding proteins and controls the expression of a ...
    • Biological oxidations, organism-specific biosystem (from REACTOME)
      Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
      Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
    • Development and heterogeneity of the ILC family, organism-specific biosystem (from WikiPathways)
      Development and heterogeneity of the ILC family, organism-specific biosystemDevelopment and heterogeneity of the ILC family. ILCs develop from distinct progenitors in the fetal liver or bone marrow and then develop into mature ILCs in the periphery. Different transcription f...
    • Endogenous sterols, organism-specific biosystem (from REACTOME)
      Endogenous sterols, organism-specific biosystemA number of CYPs take part in cholesterol biosynthesis and elimination, thus playing an important role in maintaining cholesterol homeostasis. Under normal physiological conditions, cholesterol intak...
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
      PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
    • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
      Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
    • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
      Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
    • Th17 cell differentiation, organism-specific biosystem (from KEGG)
      Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Th17 cell differentiation, conserved biosystem (from KEGG)
      Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Xenobiotics, organism-specific biosystem (from REACTOME)
      Xenobiotics, organism-specific biosystemOf the 50 microsomal CYPs, 15 act on xenobiotics. They all possess wide substrate specificity to cater for most foreign compounds that find their way into the body.

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    E-box binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Hsp90 protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    TBP-class protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    TFIID-class transcription factor complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    aryl hydrocarbon receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enhancer binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    blood vessel development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cAMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to 2,3,7,8-tetrachlorodibenzodioxine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to forskolin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of B cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to toxic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to xenobiotic stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    cytosolic aryl hydrocarbon receptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription factor complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    aryl hydrocarbon receptor
    Names
    AH-receptor
    ah receptor
    aromatic hydrocarbon receptor
    class E basic helix-loop-helix protein 76

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001621.4NP_001612.1  aryl hydrocarbon receptor

      See identical proteins and their annotated locations for NP_001612.1

      Status: REVIEWED

      Source sequence(s)
      AA329775, AC003075, AK307495, BX505160, D16354, L19872
      Consensus CDS
      CCDS5366.1
      UniProtKB/Swiss-Prot
      P35869
      UniProtKB/TrEMBL
      A0A024R9Z8
      Related
      ENSP00000242057.4, OTTHUMP00000195583, ENST00000242057.8, OTTHUMT00000314620
      Conserved Domains (4) summary
      cd00083
      Location:3778
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      cd00130
      Location:122224
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00989
      Location:113227
      PAS; PAS fold
      pfam08447
      Location:297382
      PAS_3; PAS fold

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      17298652..17346151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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