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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q21.3
Chromosome location (bp)
150809713 - 150876708
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1. 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 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001666[response to hypoxia] GO:0001938[positive regulation of endothelial cell proliferation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0016604[nuclear body] GO:0017162[aryl hydrocarbon receptor binding] GO:0030522[intracellular receptor signaling pathway] GO:0030949[positive regulation of vascular endothelial growth factor receptor signaling pathway] GO:0034751[aryl hydrocarbon receptor complex] GO:0034753[nuclear aryl hydrocarbon receptor complex] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA binding] 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:0045944[positive regulation of transcription by RNA polymerase II] GO:0046886[positive regulation of hormone biosynthetic process] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001666[response to hypoxia] GO:0001892[embryonic placenta development] GO:0001938[positive regulation of endothelial cell proliferation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0016604[nuclear body] GO:0017162[aryl hydrocarbon receptor binding] 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:0034751[aryl hydrocarbon receptor complex] GO:0034753[nuclear aryl hydrocarbon receptor complex] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA binding] 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 DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046886[positive regulation of hormone biosynthetic process] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001666[response to hypoxia] GO:0001938[positive regulation of endothelial cell proliferation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0016604[nuclear body] GO:0017162[aryl hydrocarbon receptor binding] GO:0030522[intracellular receptor signaling pathway] GO:0030949[positive regulation of vascular endothelial growth factor receptor signaling pathway] GO:0034751[aryl hydrocarbon receptor complex] GO:0034753[nuclear aryl hydrocarbon receptor complex] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA binding] 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:0045944[positive regulation of transcription by RNA polymerase II] GO:0046886[positive regulation of hormone biosynthetic process] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001666[response to hypoxia] GO:0001938[positive regulation of endothelial cell proliferation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0016604[nuclear body] GO:0017162[aryl hydrocarbon receptor binding] GO:0030522[intracellular receptor signaling pathway] GO:0030949[positive regulation of vascular endothelial growth factor receptor signaling pathway] GO:0034751[aryl hydrocarbon receptor complex] GO:0034753[nuclear aryl hydrocarbon receptor complex] GO:0042803[protein homodimerization activity] GO:0043565[sequence-specific DNA binding] 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:0045944[positive regulation of transcription by RNA polymerase II] GO:0046886[positive regulation of hormone biosynthetic process] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
