Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 57491
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol AHRR   Gene   UCSC   Ensembl
Aliases AHH, AHHR, bHLHe77
Gene name aryl-hydrocarbon receptor repressor
Alternate names aryl hydrocarbon receptor repressor, ahR repressor, aryl hydrocarbon hydroxylase regulator, class E basic helix-loop-helix protein 77, dioxin receptor repressor,
Gene location 5p15.33 (39329705: 39333679)     Exons: 2     NC_000003.12
Gene summary(Entrez) The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
OMIM 606517

Protein Summary
Protein general information A9YTQ3  

Name: Aryl hydrocarbon receptor repressor (AhR repressor) (AhRR) (Class E basic helix-loop-helix protein 77) (bHLHe77)

Length: 701  Mass: 76,265

Tissue specificity: Highly expressed in testis, lung, ovary, spleen and pancreas. Highly expressed in mononuclear cells (MNCs) from umbilical cord blood. Isoform 3 is highly expressed in lung, kidney, spleen and thymus. Down-regulated malignant tissue fro

Sequence MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSV
SYLRVKSFFQVVQEQSSRQPAAGAPSPGDSCPLAGSAVLEGRLLLESLNGFALVVSAEGTIFYASATIVDYLGFH
QTDVMHQNIYDYIHVDDRQDFCRQLHWAMDPPQVVFGQPPPLETGDDAILGRLLRAQEWGTGTPTEYSAFLTRCF
ICRVRCLLDSTSGFLTMQFQGKLKFLFGQKKKAPSGAMLPPRLSLFCIAAPVLLPSAAEMKMRSALLRAKPRADT
AATADAKVKATTSLCESELHGKPNYSAGRSSRESGVLVLREQTDAGRWAQVPARAPCLCLRGGPDLVLDPKGGSG
DREEEQHRMLSRASGVTGRRETPGPTKPLPWTAGKHSEDGARPRLQPSKNDPPSLRPMPRGSCLPCPCVQGTFRN
SPISHPPSPSPSAYSSRTSRPMRDVGEDQVHPPLCHFPQRSLQHQLPQPGAQRFATRGYPMEDMKLQGVPMPPGD
LCGPTLLLDVSIKMEKDSGCEGAADGCVPSQVWLGASDRSHPATFPTRMHLKTEPDSRQQVYISHLGHGVRGAQP
HGRATAGRSRELTPFHPAHCACLEPTDGLPQSEPPHQLCARGRGEQSCTCRAAEAAPVVKREPLDSPQWATHSQG
MVPGMLPKSALATLVPPQASGCTFLP
Structural information
Protein Domains
 bHLH. (28-81)
PAS. (112-182)
Interpro:  IPR011598 IPR036638 IPR000014 IPR035965 IPR013767
Prosite:   PS50888 PS50112

Pfam:  		 PF00010 PF00989
CDD:   cd00083 cd00130

PDB:  		 5Y7Y
PDBsum:   5Y7Y
STRING:   ENSP00000323816;
Other Databases GeneCards:  AHRR;  Malacards:  AHRR

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological_process
GO:0001191 transcriptional repressor
activity, RNA polymerase
II transcription factor
binding
 IBA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0009410 response to xenobiotic st
imulus
 IBA biological_process
GO:0046983 protein dimerization acti
vity
 IEA molecular_function
GO:0034753 nuclear aryl hydrocarbon
receptor complex
 IBA cellular_component
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IBA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological_process
GO:0001191 transcriptional repressor
activity, RNA polymerase
II transcription factor
binding
 IBA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 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:0009410 response to xenobiotic st
imulus
 IBA biological_process
GO:0046983 protein dimerization acti
vity
 IEA molecular_function
GO:0034753 nuclear aryl hydrocarbon
receptor complex
 IBA cellular_component
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IBA biological_process
GO:0001191 transcriptional repressor
activity, RNA polymerase
II transcription factor
binding
 IBA molecular_function
GO:0009410 response to xenobiotic st
imulus
 IBA biological_process
GO:0034753 nuclear aryl hydrocarbon
receptor complex
 IBA cellular_component
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IBA biological_process

Diseases

Associated diseases References
Adenocarcinoma GAD20453000
Micropenis GAD11835227
Lung cancer GAD18676680
Endometriosis GAD17513317
Chronic obstructive pulmonary disease (COPD) GAD19625176
Bladder cancer GAD18632753
Azoospermia GAD17559847
Endometriosis PubMed26101050

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26101050 Endometrio
sis
 AhR Arg554Lys, ARNT Val189Val, AhRR Pro185Ala

AhR
ARNT
AhRR
 Show abstract
22017422 Endometrio
sis

CYP1A1
CYP1B1
GSTM1
GSTT1
GSTP1
AhR
ARNT
and AhRR
 Show abstract
17513317 Endometrio
sis
 Korean
 572 (316 women
with advanced s
tage endometrio
sis, 256 contro
l women without
endometriosis)
 AhRR
GSTT1
 Show abstract
16084889 Endometrio
sis
 Japanes
e
 138 with or wit
hout endometrio
sis
Show abstract