U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    AHR aryl hydrocarbon receptor [ Homo sapiens (human) ]

    Gene ID: 196, updated on 22-Jan-2023

    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; AllianceGenome:HGNC:348
    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
    RP85; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AHR in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (17298652..17346147)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (17428395..17475891)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (17338276..17385771)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901596 Neighboring gene uncharacterized LOC107986772 Neighboring gene uncharacterized LOC101927609 Neighboring gene uncharacterized LOC105375171 Neighboring gene long intergenic non-protein coding RNA 2888 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Retinitis pigmentosa 85
    MedGen: C5193041 OMIM: 618345 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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_001621.5NP_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, Q13804
      UniProtKB/TrEMBL
      A0A024R9Z8
      Related
      ENSP00000242057.4, ENST00000242057.9
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      17298652..17346147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      17428395..17475891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)