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AHR aryl hydrocarbon receptor [ Homo sapiens (human) ]

Gene ID: 196, updated on 4-Dec-2022

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
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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)

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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)