Human Gene ARNT (ENST00000358595.10_10) from GENCODE V45lift37
Description: Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA. (from RefSeq NM_001668) RefSeq Summary (NM_001668): This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]. Gencode Transcript: ENST00000358595.10_10 Gencode Gene: ENSG00000143437.21_12 Transcript (Including UTRs) Position: hg19 chr1:150,782,189-150,849,075 Size: 66,887 Total Exon Count: 22 Strand: - Coding Region Position: hg19 chr1:150,784,497-150,849,043 Size: 64,547 Coding Exon Count: 22
ID:ARNT_HUMAN DESCRIPTION: RecName: Full=Aryl hydrocarbon receptor nuclear translocator ; Short=ARNT protein; AltName: Full=Class E basic helix-loop-helix protein 2; Short=bHLHe2; AltName: Full=Dioxin receptor, nuclear translocator; AltName: Full=Hypoxia-inducible factor 1-beta; Short=HIF-1-beta; Short=HIF1-beta; FUNCTION: Required for activity of the AHR. Upon ligand binding, AHR translocates into the nucleus, where it heterodimerizes with ARNT and induces transcription by binding to xenobiotic response elements (XRE). Not required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding (PubMed:34521881). The complex initiates transcription of genes involved in the regulation of a variety of biological processes, including angiogenesis, hematopoiesis, drug and lipid metabolism, cell motility and immune modulation (Probable). The heterodimer binds to core DNA sequence 5'- TACGTG-3' within the hypoxia response element (HRE) of target gene promoters and functions as a transcriptional regulator of the adaptive response to hypoxia (By similarity). The heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28396409). SUBUNIT: Monomer. Homodimer only upon binding to a DNA (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Interacts with TACC3 (By similarity). Interacts with HIF1A, EPAS1, NPAS1 and NPAS3; forms a heterodimer that binds core DNA sequence 5'- TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (PubMed:20699359, PubMed:16181639) (By similarity). Forms a heterodimer with AHRR, as well as with other bHLH proteins (Probable). Interacts with NOCA7 (PubMed:10395741). Interacts with TACC3 (By similarity). Interacts with AHR; the heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28396409, PubMed:34521881). Interacts with SIM1 and NPAS4 (By similarity). INTERACTION: P27540; P35869: AHR; NbExp=6; IntAct=EBI-80809, EBI-80780; P27540; Q99814: EPAS1; NbExp=8; IntAct=EBI-80809, EBI-447470; P27540; Q16665: HIF1A; NbExp=12; IntAct=EBI-80809, EBI-447269; P27540; Q8NI08: NCOA7; NbExp=2; IntAct=EBI-80809, EBI-80799; P27540; Q9Y618: NCOR2; NbExp=2; IntAct=EBI-80809, EBI-80830; SUBCELLULAR LOCATION: Nucleus SEQUENCE CAUTION: Sequence=BAD93114.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=CAD38953.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/223/ARNT"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/arnt/";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ARNT CDC HuGE Published Literature: ARNT Positive Disease Associations: micropenis Related Studies:
micropenis Fujita, H. et al. 2002, Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis., Teratology. 2002 Jan;65(1):8-Oct.
[PubMed 11835227]
Homozygosity for the 185Pro allele of AHRR may increase the susceptibility of a fetus to the undermasculinizing effects of dioxin exposure in utero, presumably through the diminished inhibition of AHR-mediated signaling.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P27540
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Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003713 transcription coactivator activity GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0017162 aryl hydrocarbon receptor binding GO:0035326 enhancer binding GO:0042803 protein homodimerization activity GO:0043565 sequence-specific DNA binding GO:0046982 protein heterodimerization activity GO:0046983 protein dimerization activity GO:1990837 sequence-specific double-stranded DNA binding
Biological Process: GO:0001666 response to hypoxia GO:0001892 embryonic placenta development GO:0001938 positive regulation of endothelial cell proliferation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006805 xenobiotic metabolic process GO:0010575 positive regulation of vascular endothelial growth factor production GO:0030154 cell differentiation GO:0030522 intracellular receptor signaling pathway GO:0030949 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0033235 positive regulation of protein sumoylation GO:0042789 mRNA transcription from RNA polymerase II promoter GO:0043619 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0045648 positive regulation of erythrocyte differentiation GO:0045821 positive regulation of glycolytic process GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046886 positive regulation of hormone biosynthetic process GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
