Human Gene ARNT (ENST00000358595.10_11) from GENCODE V47lift37
  Description: aryl hydrocarbon receptor nuclear translocator, transcript variant 1 (from RefSeq NM_001668.4)
Gencode Transcript: ENST00000358595.10_11
Gencode Gene: ENSG00000143437.21_13
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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:150,782,189-150,849,075)mRNA (may differ from genome)Protein (789 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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 Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer with HIF1A or EPAS1/HIF2A functions as a transcriptional regulator of the adaptive response to hypoxia.
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with AHR, AHRR, HIF1A and EPAS1/HIF2A as well as with other bHLH proteins. Interacts with TACC3 (By similarity). Interacts with NOCA7. Heterodimer with HIF1A.
INTERACTION: P35869:AHR; NbExp=5; IntAct=EBI-80809, EBI-80780; Q16665:HIF1A; NbExp=7; IntAct=EBI-80809, EBI-447269; Q8NI08:NCOA7; NbExp=2; IntAct=EBI-80809, EBI-80799; Q9Y618:NCOR2; NbExp=2; IntAct=EBI-80809, EBI-80830;
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
SIMILARITY: Contains 1 PAC (PAS-associated C-terminal) domain.
SIMILARITY: Contains 2 PAS (PER-ARNT-SIM) domains.
SEQUENCE CAUTION: Sequence=CAD38953.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ARNTID223ch1q21.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/arnt/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ARNT
Diseases sorted by gene-association score: hypoxia (15), renal cell carcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.94 RPKM in Cervix - Endocervix
Total median expression: 644.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.0032-0.375 Picture PostScript Text
3' UTR -681.802308-0.295 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom
IPR001067 - Nuc_translocat
IPR001610 - PAC
IPR000014 - PAS
IPR013767 - PAS_fold
IPR013655 - PAS_fold_3

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain
PF00989 - PAS fold
PF08447 - PAS fold
PF13426 - PAS domain
PF14598 - PAS domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain
88633 - Positive stranded ssRNA viruses
55785 - PYP-like sensor domain (PAS domain)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1D7G - Model 1X0O - NMR 2A24 - NMR 2ARN - Model 2B02 - X-ray MuPIT 2HV1 - NMR MuPIT 2K7S - NMR MuPIT 3F1N - X-ray MuPIT 3F1O - X-ray MuPIT 3F1P - X-ray MuPIT 3H7W - X-ray MuPIT 3H82 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P27540
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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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:0000989 transcription factor activity, transcription factor binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0004874 aryl hydrocarbon receptor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0017162 aryl hydrocarbon receptor binding
GO:0035326 enhancer binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0043565 sequence-specific 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

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0016604 nuclear body
GO:0090575 RNA polymerase II transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  BC041121 - Homo sapiens aryl hydrocarbon receptor nuclear translocator, mRNA (cDNA clone IMAGE:5555271).
JD556811 - Sequence 537835 from Patent EP1572962.
JD501031 - Sequence 482055 from Patent EP1572962.
JD489725 - Sequence 470749 from Patent EP1572962.
JD426811 - Sequence 407835 from Patent EP1572962.
JD217829 - Sequence 198853 from Patent EP1572962.
JD278376 - Sequence 259400 from Patent EP1572962.
JD218936 - Sequence 199960 from Patent EP1572962.
JD086495 - Sequence 67519 from Patent EP1572962.
JD462820 - Sequence 443844 from Patent EP1572962.
BC028362 - Homo sapiens cDNA clone IMAGE:4828364, containing frame-shift errors.
BC060838 - Homo sapiens aryl hydrocarbon receptor nuclear translocator, mRNA (cDNA clone MGC:71732 IMAGE:5300334), complete cds.
JD358679 - Sequence 339703 from Patent EP1572962.
JD394071 - Sequence 375095 from Patent EP1572962.
JD358027 - Sequence 339051 from Patent EP1572962.
JD565210 - Sequence 546234 from Patent EP1572962.
JD152629 - Sequence 133653 from Patent EP1572962.
AB209877 - Homo sapiens mRNA for aryl hydrocarbon receptor nuclear translocator isoform 1 variant protein.
JD085921 - Sequence 66945 from Patent EP1572962.
JD083841 - Sequence 64865 from Patent EP1572962.
JD433426 - Sequence 414450 from Patent EP1572962.
JD559441 - Sequence 540465 from Patent EP1572962.
JD434641 - Sequence 415665 from Patent EP1572962.
JD133143 - Sequence 114167 from Patent EP1572962.
JD422934 - Sequence 403958 from Patent EP1572962.
JD350205 - Sequence 331229 from Patent EP1572962.
JD339456 - Sequence 320480 from Patent EP1572962.
AK223459 - Homo sapiens mRNA for aryl hydrocarbon receptor nuclear translocator isoform 2 variant, clone: FCC115G09.
AL834279 - Homo sapiens mRNA; cDNA DKFZp547B0614 (from clone DKFZp547B0614).
AK304772 - Homo sapiens cDNA FLJ54656 complete cds, highly similar to Aryl hydrocarbon receptor nuclear translocator.
JD501961 - Sequence 482985 from Patent EP1572962.
AK293027 - Homo sapiens cDNA FLJ78688 complete cds, highly similar to Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.
M69238 - Human aryl hydrocarbon receptor nuclear translocator (ARNT) mRNA, complete cds.
JD502149 - Sequence 483173 from Patent EP1572962.
JD428721 - Sequence 409745 from Patent EP1572962.
AK291705 - Homo sapiens cDNA FLJ75039 complete cds, highly similar to Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 3, mRNA.
JD147327 - Sequence 128351 from Patent EP1572962.
AK315812 - Homo sapiens cDNA, FLJ79461 complete cds, highly similar to Aryl hydrocarbon receptor nuclear translocator.
AF001307 - Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT) mRNA, splice variant, complete cds.
AK290177 - Homo sapiens cDNA FLJ78555 complete cds, highly similar to Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.
AK313780 - Homo sapiens cDNA, FLJ94387, highly similar to Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), mRNA.
AB385121 - Synthetic construct DNA, clone: pF1KB5562, Homo sapiens ARNT gene for aryl hydrocarbon receptor nuclear translocator, complete cds, without stop codon, in Flexi system.
JD084495 - Sequence 65519 from Patent EP1572962.
JD273182 - Sequence 254206 from Patent EP1572962.
HQ448538 - Synthetic construct Homo sapiens clone IMAGE:100071973; CCSB010907_01 aryl hydrocarbon receptor nuclear translocator (ARNT) gene, encodes complete protein.
KJ901291 - Synthetic construct Homo sapiens clone ccsbBroadEn_10685 ARNT gene, encodes complete protein.
CU687456 - Synthetic construct Homo sapiens gateway clone IMAGE:100021160 5' read ARNT mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P27540 (Reactome details) participates in the following event(s):

R-HSA-1234171 HIF-alpha binds ARNT (HIF1-beta) forming HIF-alpha:ARNT
R-HSA-8936851 AHRR binds ARNT
R-HSA-8937177 AHR:TCDD binds ARNT
R-HSA-1234158 Regulation of gene expression by Hypoxia-inducible Factor
R-HSA-8937144 Aryl hydrocarbon receptor signalling
R-HSA-1234174 Regulation of Hypoxia-inducible Factor (HIF) by oxygen
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-2262749 Cellular response to hypoxia
R-HSA-211859 Biological oxidations
R-HSA-2262752 Cellular responses to stress
R-HSA-1430728 Metabolism
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: ARNT , ARNT_HUMAN, B2R9H1, BHLHE2, C4AMA1, ENST00000358595.1, ENST00000358595.2, ENST00000358595.3, ENST00000358595.4, ENST00000358595.5, ENST00000358595.6, ENST00000358595.7, ENST00000358595.8, ENST00000358595.9, F8WAP6, NM_001668, P27540, Q59ED4, Q5QP39, Q8NDC7, uc318aqf.1, uc318aqf.2
UCSC ID: ENST00000358595.10_11
RefSeq Accession: NM_001668.4
Protein: P27540 (aka ARNT_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.