ARNT (Aryl Hydrocarbon Receptor Nuclear Translocator)
A key transcription factor in hypoxia signaling and xenobiotic metabolism
Gene Information Card
| Symbol | ARNT |
|---|---|
| Full Name | Aryl Hydrocarbon Receptor Nuclear Translocator |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 405 ncbi.nlm.nih.gov/gene/405 |
| Ensembl ID | ENSG00000143437 |
| UniProt ID | P27540 |
| OMIM ID | 126110 |
| HGNC ID | 700 |
| Aliases | HIF1B, HIF-1β, TANGO, bHLHe2 |
Description
The ARNT gene encodes the aryl hydrocarbon receptor nuclear translocator protein, a basic helix-loop-helix (bHLH) transcription factor that forms heterodimers with various partners, including the aryl hydrocarbon receptor (AHR) and hypoxia-inducible factor 1α (HIF1A). ARNT is essential for mediating cellular responses to environmental toxins (via AHR) and hypoxia (via HIF1A). It is widely expressed and involved in development, metabolism, and angiogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 diabetes | ARNT deficiency in pancreatic β-cells impairs insulin secretion and glucose sensing | PMID: 15864305 |
| Pulmonary hypertension | Reduced ARNT expression disrupts HIF signaling, contributing to vascular remodeling | PMID: 21149582 |
| Breast cancer | ARNT overexpression correlates with poor prognosis and promotes tumor growth via HIF pathway | PMID: 23382210 |
| Clear cell renal cell carcinoma | Loss of ARNT function leads to pseudohypoxic drive and tumor progression | PMID: 21746835 |
| AHR pathway-related toxicity | ARNT dimerization with AHR mediates dioxin-induced carcinogenesis and developmental defects | PMID: 12897163 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 14.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 11.5 | Medium |
| Brain | 9.3 | Low |
| Heart | 8.7 | Low |
| Pancreas | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 16.5 | Embryonic kidney, high expression |
| HeLa | 14.0 | Cervical carcinoma, moderate |
| HepG2 | 13.2 | Hepatocellular carcinoma, moderate |
| A549 | 12.1 | Lung carcinoma, moderate |
| MCF7 | 10.8 | Breast carcinoma, low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.166C>T (p.Arg56*) | Nonsense | <0.01% | Loss of function; truncation of bHLH domain |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Reduced dimerization with HIF1A |
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Impaired nuclear translocation |
| c.1345_1346insA (p.Thr449Asnfs*12) | Frameshift | <0.01% | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg56*, p.Thr449Asnfs*12) lead to truncated or unstable protein, impairing heterodimerization and transcriptional activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ARNT.
Dominant Negative (DN)
Missense mutations in the bHLH or PAS domains (e.g., p.Gly153Ser) may produce proteins that compete with wild-type ARNT for dimerization partners, reducing functional complexes.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • protein heterodimerization activity |
| • response to hypoxia | • xenobiotic metabolic process |
| • circadian rhythm | • positive regulation of transcription by RNA polymerase II |
Pathways
• HIF-1 signaling pathway (KEGG: hsa04066)
• Aryl hydrocarbon receptor pathway (Reactome: R-HSA-8939211)
• Circadian entrainment (KEGG: hsa04713)
• Cellular response to hypoxia (Reactome: R-HSA-1234174)
Protein Summary
ARNT (HIF1β) is a 789-amino acid protein containing bHLH and PAS domains that mediate dimerization and DNA binding. It serves as the obligate partner for several bHLH-PAS transcription factors, including AHR, HIF1A, and SIM1. ARNT is constitutively expressed and shuttles between cytoplasm and nucleus. Its activity is regulated by ligand binding (for AHR) or oxygen-dependent stabilization (for HIF1A). ARNT is critical for embryonic development, angiogenesis, and metabolic homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARNT Knockout HEK293 Cell Line | EDJ-KQ914 | Human | 405 | Details Get a Quote |
| ARNT2 Knockout HEK293 Cell Line | EDJ-KQ6166 | Human | 9915 | Details Get a Quote |
| ARNT Knockout A-549 Cell Line | EDJ-KQ21109 | Human | 405 | Details Get a Quote |
| ARNT Knockout HCT 116 Cell Line | EDJ-KQ21111 | Human | 405 | Details Get a Quote |
| ARNT Knockout HeLa Cell Line | EDJ-KQ21112 | Human | 405 | Details Get a Quote |
| ARNT2 Knockout A-549 Cell Line | EDJ-KQ31341 | Human | 9915 | Details Get a Quote |
| ARNT2 Knockout HCT 116 Cell Line | EDJ-KQ31342 | Human | 9915 | Details Get a Quote |
| ARNT2 Knockout HeLa Cell Line | EDJ-KQ55278 | Human | 9915 | Details Get a Quote |
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