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Gene id

196

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

AHR Gene UCSC Ensembl

Aliases

bHLHe76

Gene name

aryl hydrocarbon receptor

Alternate names

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

Gene location

7p21.1 (17298651: 17346150) Exons: 11 NC_000007.14

Gene summary(Entrez)

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]

OMIM

600253

SNPs

rs2040623

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000669.2   g.17341038A>C
NC_000007.13   g.17380662A>C
NC_000007.14   g.17341038A>C
NM_001621.4   c.2403+810A>C
rs2066853

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000669.2   g.17339486G>A
NC_000007.13   g.17379110G>A
NC_000007.14   g.17339486G>A
NM_001621.4   c.1661G>A
NP_001612.1   p.Arg554Lys
rs2106728

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000669.2   g.17342116T>C
NC_000007.13   g.17381740T>C
NC_000007.14   g.17342116T>C
NM_001621.4   c.2404-805T>C
rs2282883

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000669.2   g.17316723T>C
CM000669.2   g.17316723T>G
NC_000007.13   g.17356347T>C
NC_000007.14   g.17316723T>C
NC_000007.14   g.17316723T>G
NM_001621.4   c.254-5778T>C
NM_001621.4   c.254-5778T>G
rs713150

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000669.2   g.17300533G>C
CM000669.2   g.17300533G>T
NC_000007.13   g.17340157G>C
NC_000007.14   g.17300533G>C
NC_000007.14   g.17300533G>T
NM_001621.4   c.65+1204G>C
NM_001621.4   c.65+1204G>T
XR_242133.1   n.-1415C>G
XR_927073.2   n.-1995C>A
XR_927073.2   n.-1995C>G

Protein Summary

Protein general information

P35869

Name: Aryl hydrocarbon receptor (Ah receptor) (AhR) (Class E basic helix loop helix protein 76) (bHLHe76)

Length: 848 Mass: 96,147

Tissue specificity: Expressed in all tissues tested including blood, brain, heart, kidney, liver, lung, pancreas and skeletal muscle. {ECO

Sequence

MNSSSANITYASRKRRKPVQKTVKPIPAEGIKSNPSKRHRDRLNTELDRLASLLPFPQDVINKLDKLSVLRLSVS
YLRAKSFFDVALKSSPTERNGGQDNCRAANFREGLNLQEGEFLLQALNGFVLVVTTDALVFYASSTIQDYLGFQQ
SDVIHQSVYELIHTEDRAEFQRQLHWALNPSQCTESGQGIEEATGLPQTVVCYNPDQIPPENSPLMERCFICRLR
CLLDNSSGFLAMNFQGKLKYLHGQKKKGKDGSILPPQLALFAIATPLQPPSILEIRTKNFIFRTKHKLDFTPIGC
DAKGRIVLGYTEAELCTRGSGYQFIHAADMLYCAESHIRMIKTGESGMIVFRLLTKNNRWTWVQSNARLLYKNGR
PDYIIVTQRPLTDEEGTEHLRKRNTKLPFMFTTGEAVLYEATNPFPAIMDPLPLRTKNGTSGKDSATTSTLSKDS
LNPSSLLAAMMQQDESIYLYPASSTSSTAPFENNFFNESMNECRNWQDNTAPMGNDTILKHEQIDQPQDVNSFAG
GHPGLFQDSKNSDLYSIMKNLGIDFEDIRHMQNEKFFRNDFSGEVDFRDIDLTDEILTYVQDSLSKSPFIPSDYQ
QQQSLALNSSCMVQEHLHLEQQQQHHQKQVVVEPQQQLCQKMKHMQVNGMFENWNSNQFVPFNCPQQDPQQYNVF
TDLHGISQEFPYKSEMDSMPYTQNFISCNQPVLPQHSKCTELDYPMGSFEPSPYPTTSSLEDFVTCLQLPENQKH
GLNPQSAIITPQTCYAGAVSMYQCQPEPQHTHVGQMQYNPVLPGQQAFLNKFQNGVLNETYPAELNNINNTQTTT
HLQPLHHPSEARPFPDLTSSGFL

Structural information

Protein Domains	bHLH. (27-80) PAS (111-181) PAS (275-342) PAC. (348-386)
Interpro:	IPR033348 IPR011598 IPR001610 IPR000014 IPR013767 IPR013655
Prosite:	PS50888 PS50112
Pfam:	PF00010 PF00989 PF08447
CDD:	cd00083 cd00130
DIP:	946
MINT:	6597538
STRING:	ENSP00000242057;

Other Databases

GeneCards: AHR; Malacards: AHR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001568	blood vessel development	NAS	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0004874	aryl hydrocarbon receptor activity	IEA	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-activated sequence- specific DNA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005667	transcription factor comp lex	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IDA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IDA	biological_process
GO:0006805	xenobiotic metabolic proc ess	TAS	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0009410	response to xenobiotic st imulus	IDA	biological_process
GO:0009636	response to toxic substan ce	IDA	biological_process
GO:0010468	regulation of gene expres sion	IDA	biological_process
GO:0030522	intracellular receptor si gnaling pathway	IEA	biological_process
GO:0030888	regulation of B cell prol iferation	IDA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0032922	circadian regulation of g ene expression	ISS	biological_process
GO:0034752	cytosolic aryl hydrocarbo n receptor complex	TAS	cellular_component
GO:0034753	nuclear aryl hydrocarbon receptor complex	IBA	cellular_component
GO:0035326	enhancer binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IBA	biological_process
GO:0046982	protein heterodimerizatio n activity	TAS	molecular_function
GO:0046983	protein dimerization acti vity	TAS	molecular_function
GO:0051879	Hsp90 protein binding	IDA	molecular_function
GO:0070888	E-box binding	ISS	molecular_function
GO:0071385	cellular response to gluc ocorticoid stimulus	IEA	biological_process
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001568	blood vessel development	NAS	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0004874	aryl hydrocarbon receptor activity	IEA	molecular_function
GO:0004874	aryl hydrocarbon receptor activity	IEA	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-activated sequence- specific DNA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005667	transcription factor comp lex	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IDA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IDA	biological_process
GO:0006805	xenobiotic metabolic proc ess	TAS	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0009410	response to xenobiotic st imulus	IEA	biological_process
GO:0009410	response to xenobiotic st imulus	IDA	biological_process
GO:0009636	response to toxic substan ce	IDA	biological_process
GO:0010468	regulation of gene expres sion	IDA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0030522	intracellular receptor si gnaling pathway	IEA	biological_process
GO:0030888	regulation of B cell prol iferation	IDA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0032922	circadian regulation of g ene expression	ISS	biological_process
GO:0034751	aryl hydrocarbon receptor complex	IEA	cellular_component
GO:0034752	cytosolic aryl hydrocarbo n receptor complex	TAS	cellular_component
GO:0034753	nuclear aryl hydrocarbon receptor complex	IBA	cellular_component
GO:0035326	enhancer binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IBA	biological_process
GO:0046982	protein heterodimerizatio n activity	TAS	molecular_function
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0046983	protein dimerization acti vity	TAS	molecular_function
GO:0048511	rhythmic process	IEA	biological_process
GO:0051879	Hsp90 protein binding	IDA	molecular_function
GO:0070888	E-box binding	ISS	molecular_function
GO:0071385	cellular response to gluc ocorticoid stimulus	IEA	biological_process
GO:0001568	blood vessel development	NAS	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-activated sequence- specific DNA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005667	transcription factor comp lex	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IDA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IDA	biological_process
GO:0006805	xenobiotic metabolic proc ess	TAS	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0009410	response to xenobiotic st imulus	IDA	biological_process
GO:0009636	response to toxic substan ce	IDA	biological_process
GO:0010468	regulation of gene expres sion	IDA	biological_process
GO:0030888	regulation of B cell prol iferation	IDA	biological_process
GO:0032922	circadian regulation of g ene expression	ISS	biological_process
GO:0034752	cytosolic aryl hydrocarbo n receptor complex	TAS	cellular_component
GO:0034753	nuclear aryl hydrocarbon receptor complex	IBA	cellular_component
GO:0035326	enhancer binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IBA	biological_process
GO:0046982	protein heterodimerizatio n activity	TAS	molecular_function
GO:0046983	protein dimerization acti vity	TAS	molecular_function
GO:0051879	Hsp90 protein binding	IDA	molecular_function
GO:0070888	E-box binding	ISS	molecular_function

KEGG pathways

hsa04659 Th17 cell differentiation

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Azoospermia	PMID: 15474075
Cancer	PMID: 16103451
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Cryptorchidism	PMID: 22648180
Dementia	PMID: 12852830
Endometrial cancer	PMID: 23208493
Endometriosis	PMID: 11393538
Hypospadias	PMID: 22648180
Macular degeneration	PMID: 15774926
Male infertility	PMID: 21689841
Micropenis	PMID: 15758562
Myocardial infarction	PMID: 17053541
Oligozoospermia	PMID: 15474075
Endometriosis	INFBASE22017422

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23141164	Endometrio sis	GG + AG [from AhR -1661G/A (GG) and GSTP1 -313A/G (AG)]	Han Chi nese	925 (432 endome triosis patient s, 493 patients with fallopian tube ligation, tubal recanali zation, laparos copic hydrotuba tion, benign ov arian tumor and teratoma surge ries without en dometriosis as control group )		AhR GSTP1	Show abstract
22017422	Endometrio sis		Taiwane se Han			CYP1A1 CYP1B1 GSTM1 GSTT1 GSTP1 AhR ARNT and AhRR	Show abstract