AHRR: Aryl Hydrocarbon Receptor Repressor
Key regulator of xenobiotic metabolism and tumor suppression
Gene Information Card
| Symbol | AHRR |
|---|---|
| Full Name | Aryl Hydrocarbon Receptor Repressor |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 57491 ncbi.nlm.nih.gov/gene/57491 |
| Ensembl ID | ENSG00000130707 |
| UniProt ID | A8MPT9 |
| OMIM ID | 606517 |
| HGNC ID | 346 |
| Aliases | AHHR, bHLHe77, KIAA1234 |
Description
The AHRR gene encodes the aryl hydrocarbon receptor repressor, a basic helix-loop-helix (bHLH) transcription factor that negatively regulates the aryl hydrocarbon receptor (AHR) signaling pathway. AHRR competes with AHR for binding to xenobiotic response elements (XREs) and recruits repressor complexes, thereby modulating the expression of genes involved in xenobiotic metabolism, cell cycle regulation, and immune responses. AHRR is considered a tumor suppressor gene, and its epigenetic silencing via promoter methylation is frequently observed in various cancers, particularly lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Promoter hypermethylation of AHRR leads to reduced expression, contributing to tumorigenesis through dysregulated AHR signaling and increased cell proliferation. | Multiple studies (e.g., NCBI PubMed, COSMIC) report AHRR methylation in non-small cell lung cancer. |
| Breast Cancer | AHRR downregulation via methylation or deletion is associated with poor prognosis and altered estrogen metabolism. | ClinVar and COSMIC list AHRR alterations in breast cancer samples. |
| Colorectal Cancer | Loss of AHRR expression correlates with increased AHR activity and tumor progression. | OMIM and NCBI Gene references note AHRR involvement in colorectal cancer. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Liver | 8.3 | Low |
| Placenta | 15.2 | Medium |
| Spleen | 6.1 | Low |
| Kidney | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 18.4 | Moderate expression; often reduced in cancer due to methylation |
| HepG2 (hepatocellular carcinoma) | 7.2 | Low expression; AHRR represses CYP1A1 |
| MCF7 (breast adenocarcinoma) | 5.6 | Low expression; associated with poor prognosis |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop; loss of function |
| Promoter methylation | Epigenetic | Frequent in lung cancer | Silences gene expression; loss of function |
Mutation functional classification
Loss of Function (LOF)
Promoter methylation and nonsense mutations reduce or eliminate AHRR expression, impairing repression of AHR signaling and promoting tumorigenesis.
Gain of Function (GOF)
Not reported; AHRR is primarily a repressor and gain-of-function mutations are not documented.
Dominant Negative (DN)
Not described; AHRR acts as a competitive repressor, but dominant-negative variants have not been characterized.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003700 DNA-binding transcription factor activity | • GO:0004879 nuclear receptor activity |
| • GO:0005515 protein binding | • GO:0005634 nucleus |
| • GO:0006357 regulation of transcription by RNA polymerase II | • GO:0045944 positive regulation of transcription by RNA polymerase II |
| • GO:0006805 xenobiotic metabolic process | • GO:0010468 regulation of gene expression |
Pathways
• Aryl hydrocarbon receptor signaling pathway (Reactome: R-HSA-3214847)
• Xenobiotic metabolism (KEGG: hsa00980)
Protein Summary
The AHRR protein (UniProt A8MPT9) is a 701-amino acid transcription factor containing a bHLH domain and a PAS domain. It functions as a repressor of AHR-mediated transcription by competing for XRE binding and recruiting corepressors. AHRR is involved in detoxification, cell cycle control, and immune modulation. Its loss is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AHRR Knockout HEK293 Cell Line | EDJ-KQ11882 | Human | 57491 | Details Get a Quote |
| AHRR Knockout HeLa Cell Line | EDJ-KQ39086 | Human | 57491 | Details Get a Quote |
| AHRR Knockout A-549 Cell Line | EDJ-KQ40323 | Human | 57491 | Details Get a Quote |
| AHRR Knockout HCT 116 Cell Line | EDJ-KQ40324 | Human | 57491 | Details Get a Quote |
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