AHR aryl hydrocarbon receptor [Homo sapiens (human)] - Gene

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: FVH3; 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: mouse all
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Genomic context

Location:: 7p21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (17298652..17346147)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (17428395..17475891)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (17338276..17385771)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The aryl hydrocarbon receptor shapes monocyte transcriptional responses to interleukin-4 by prolonging STAT6 binding to promoters.
Title: The aryl hydrocarbon receptor shapes monocyte transcriptional responses to interleukin-4 by prolonging STAT6 binding to promoters.
The aryl hydrocarbon receptor pathway is a marker of lung cell activation but does not play a central pathologic role in engineered stone-associated silicosis.
Title: The aryl hydrocarbon receptor pathway is a marker of lung cell activation but does not play a central pathologic role in engineered stone-associated silicosis.
MerTK[+] macrophages promote melanoma progression and immunotherapy resistance through AhR-ALKAL1 activation.
Title: MerTK(+) macrophages promote melanoma progression and immunotherapy resistance through AhR-ALKAL1 activation.
Involvement of Aryl Hydrocarbon Receptor in Longevity and Healthspan: Insights from Humans, Mice, and C. elegans.
Title: Involvement of Aryl Hydrocarbon Receptor in Longevity and Healthspan: Insights from Humans, Mice, and C. elegans.
PGRMC1 promotes NSCLC stemness phenotypes by disrupting TRIM56-mediated ubiquitination of AHR.
Title: PGRMC1 promotes NSCLC stemness phenotypes by disrupting TRIM56-mediated ubiquitination of AHR.
Aryl hydrocarbon receptor (AhR) is regulated by hyperoxia in premature infants.
Title: Aryl hydrocarbon receptor (AhR) is regulated by hyperoxia in premature infants.
The Aryl Hydrocarbon Receptor Regulates Invasiveness and Motility in Acute Myeloid Leukemia Cells through Expressional Regulation of Non-Muscle Myosin Heavy Chain IIA.
Title: The Aryl Hydrocarbon Receptor Regulates Invasiveness and Motility in Acute Myeloid Leukemia Cells through Expressional Regulation of Non-Muscle Myosin Heavy Chain IIA.
Acute exercise activates the AHR in peripheral blood mononuclear cells in an intensity-dependent manner.
Title: Acute exercise activates the AHR in peripheral blood mononuclear cells in an intensity-dependent manner.
[The involvement and underlying mechanism of the aryl hydrocarbon receptor (AhR) in the impairment of male mammalian fertility induced by environmental pollutants].
Title: [The involvement and underlying mechanism of the aryl hydrocarbon receptor (AhR) in the impairment of male mammalian fertility induced by environmental pollutants].
The Aryl Hydrocarbon Receptor Regulates Epidermal Differentiation through Transient Activation of TFAP2A.
Title: The Aryl Hydrocarbon Receptor Regulates Epidermal Differentiation through Transient Activation of TFAP2A.

Submit: New GeneRIF Correction See all GeneRIFs (650)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2777 (e-PCR)
- UniSTS:60422

AHR (e-PCR)
- UniSTS:57369

sY3084 (e-PCR)
- UniSTS:515126

D7S1643 (e-PCR)
- UniSTS:21825

STS-AA031700 (e-PCR)
- UniSTS:36992

SHGC-57476 (e-PCR)
- UniSTS:54699

GDB:335257 (e-PCR)
- UniSTS:156595

GDB:335259 (e-PCR)
- UniSTS:156596

AHR (e-PCR)
- UniSTS:49614

RH17631 (e-PCR)
- UniSTS:222

G20414 (e-PCR)
- UniSTS:56550

A005Q15 (e-PCR)
- UniSTS:56551

AHR (e-PCR)
- UniSTS:509936

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 nuclear receptor activity	IBA Inferred from Biological aspect of Ancestor more info
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
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 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 cellular response to molecule of bacterial origin	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 negative regulation of inflammatory response	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
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
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
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

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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)

NM_001621.5 → NP_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

A4D130, P35869, Q13728, Q13803, Q13804

UniProtKB/TrEMBL

A0A2R8Y7G1

Related

ENSP00000242057.4, ENST00000242057.9

Conserved Domains (4) summary

cd00083
Location:37 → 78

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:122 → 224

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:113 → 227

PAS; PAS fold

pfam08447
Location:297 → 382

PAS_3; PAS fold