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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).
Disease related genes Human disease 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
15
Cytoband
q25.1
Chromosome location (bp)
80404350 - 80597933
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function 1. Specifically recognizes the xenobiotic response element (XRE)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
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 member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor 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:0007417[central nervous system development] GO:0007420[brain development] GO:0017162[aryl hydrocarbon receptor binding] GO:0034751[aryl hydrocarbon receptor complex] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
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:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor 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:0007417[central nervous system development] GO:0007420[brain development] GO:0017162[aryl hydrocarbon receptor binding] GO:0034751[aryl hydrocarbon receptor complex] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
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:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor 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:0007417[central nervous system development] GO:0007420[brain development] GO:0017162[aryl hydrocarbon receptor binding] GO:0034751[aryl hydrocarbon receptor complex] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:1990837[sequence-specific double-stranded DNA binding]