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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]
AHR (Aryl Hydrocarbon Receptor) is a Protein Coding gene. Diseases associated with AHR include Retinitis Pigmentosa 85 and Retinitis Pigmentosa. Among its related pathways are Cytochrome P450 - arranged by substrate type and Aryl Hydrocarbon Receptor Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ENSG00000283321.
Aryl hydrocarbon receptors (AHRs) are cytosolic transcription factors that exist bound to co-chaperones in the resting state. Ligand binding causes the co-chaperones to dissociate, allowing AHR to translocate to the nucleus, dimerize and alter transcription of target genes.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 15681594 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0000987 | proximal promoter sequence-specific DNA binding | IDA | 23275542 |
GO:0001094 | TFIID-class transcription factor complex binding | IPI | 15641800 |
GO:0001223 | transcription coactivator binding | IPI | 15641800 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | TAS,IDA | 10395741 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | TAS | 19538249 |
GO:0005737 | cytoplasm | IDA | 15681594 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type |
.39
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2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Metabolism |
.40
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4 | Aldosterone synthesis and secretion |
.41
|
|
5 | Th17 cell differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0001568 | blood vessel development | NAS | 19538249 |
GO:0006355 | regulation of transcription, DNA-templated | IDA | 10395741 |
GO:0006357 | regulation of transcription by RNA polymerase II | IDA | 15681594 |
GO:0006366 | transcription by RNA polymerase II | IDA | 10395741 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Leflunomide | Approved, Investigational | Pharma | Target, agonist | AHR agonist,immunosuppressive agent | 91 | |
Flutamide | Approved, Investigational | Pharma | Target, agonist | 68 | ||
Mexiletine | Approved, Investigational | Pharma | Target, agonist | 21 | ||
Nimodipine | Approved, Investigational | Pharma | Activator, Potentiation, Target, agonist | Ca2+ channel blocker (L-type) | 42 | |
Diosmin | Approved, Investigational | Pharma | Target, agonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
FICZ |
|
172922-91-7 |
|
|
Compound | Action | Cas Number |
---|---|---|
6,2',4'-Trimethoxyflavone | Aryl hydrocarbon receptor antagonist | 720675-74-1 |
CH 223191 | Potent aryl hydrocarbon receptor (AhR) antagonist | 301326-22-7 |
FICZ | High affinity aryl hydrocarbon receptor (AhR) agonist | 172922-91-7 |
ITE | Endogenous agonist for the transcription factor aryl hydrocarbon receptor | 448906-42-1 |
L-Kynurenine | Tryptophan catabolite; endogenous aryl hydrocarbon receptor ligand | 2922-83-0 |
Compound | Action | Cas Number |
---|---|---|
6,2',4'-Trimethoxyflavone | 720675-74-1 | |
CH 223191 | AhR antagonist | 301326-22-7 |
DiMNF | AHR modulator | 14756-24-2 |
ITE | AHR agonist | 448906-42-1 |
Leflunomide | AHR agonist,immunosuppressive agent | 75706-12-6 |
L-Kynurenine | 2922-83-0 | |
MeBIO | CDK/Cyclin/ GSK-3/p25/AhR agonist | 667463-95-8 |
Oltipraz | An antischistosomal agent | 64224-21-1 |
Phortress | Prodrug of antitumor agent 5F 203 | 328087-38-3 |
StemRegenin 1 (SR1) | AhR antagonist | 1227633-49-9 |
SU5416 | VEGF receptor inhibitor and AHR agonist | 204005-46-9 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AHR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AHR 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AHR 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ahr 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ahr 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | AHR 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AHR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AHR 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ahr 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | AHR 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ahr1b 30 |
|
||
ahr1a 31 |
|
OneToOne | |||
ahr1 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11494 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | ss 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ahr-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12569 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709061 | Benign: not provided | 17,339,013(+) | A/G | SYNONYMOUS_VARIANT | |
724009 | Likely Benign: not provided | 17,327,755(+) | G/A | INTRON_VARIANT | |
724383 | Likely Benign: not provided | 17,339,223(+) | T/A | SYNONYMOUS_VARIANT | |
724384 | Likely Benign: not provided | 17,339,226(+) | T/A | SYNONYMOUS_VARIANT | |
726412 | Benign: not provided | 17,339,284(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv11225n54 | CNV | gain | 21841781 |
dgv6289n100 | CNV | gain | 25217958 |
dgv6290n100 | CNV | gain | 25217958 |
esv2422294 | CNV | duplication | 17116639 |
esv2759515 | CNV | gain+loss | 17122850 |
esv2764001 | CNV | gain+loss | 21179565 |
esv34717 | CNV | gain | 17911159 |
esv3612420 | CNV | loss | 21293372 |
esv3612421 | CNV | gain | 21293372 |
esv3891076 | CNV | gain | 25118596 |
esv3891077 | CNV | gain | 25118596 |
nsv1029065 | CNV | loss | 25217958 |
nsv1114920 | CNV | deletion | 24896259 |
nsv464398 | CNV | gain | 19166990 |
nsv464399 | CNV | gain | 19166990 |
nsv606343 | CNV | gain | 21841781 |
nsv8064 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 85 |
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retinitis pigmentosa |
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eosinophilia-myalgia syndrome |
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seborrheic dermatitis |
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eosinophilic fasciitis |
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