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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 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
5
Cytoband
q31.1
Chromosome location (bp)
132440440 - 132508719
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses 1,2,3,4,5,6,7,8,9. Regulates transcription of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage 10,11,12,13,14,15,16,17. Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters 18,19,20,21,22,23,24,25,26. Has an essentail role in IFNG-dependent immunity to mycobacteria 27. Competes with the transcriptional repressor ZBED2 for binding to a common consensus sequence in gene promoters 28. Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, RIGI, TNFSF10/TRAIL, ZBP1, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as GBP2, GBP5 and NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA; metabolic enzymes, such as ACOD1/IRG1 29,30,31,32,33,34,35,36. Represses genes involved in anti-proliferative response, such as BIRC5/survivin, CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such as FOXP3, IL4, ANXA2 and TLR4 37,38. Stimulates p53/TP53-dependent transcription through enhanced recruitment of EP300 leading to increased acetylation of p53/TP53 39,40. Plays an important role in immune response directly affecting NK maturation and activity, macrophage production of IL12, Th1 development and maturation of CD8+ T-cells 41,42,43,44. Also implicated in the differentiation and maturation of dendritic cells and in the suppression of regulatory T (Treg) cells development 45,46,47,48. Acts as a tumor suppressor and plays a role not only in antagonism of tumor cell growth but also in stimulating an immune response against tumor cells 49....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]...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 Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cancers Cancers of the lung and pleura Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] 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:0002376[immune system process] GO:0002819[regulation of adaptive immune response] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0010468[regulation of gene expression] GO:0032481[positive regulation of type I interferon production] GO:0032728[positive regulation of interferon-beta production] GO:0032735[positive regulation of interleukin-12 production] GO:0034124[regulation of MyD88-dependent toll-like receptor signaling pathway] GO:0035458[cellular response to interferon-beta] GO:0043374[CD8-positive, alpha-beta T cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045087[innate immune response] GO:0045088[regulation of innate immune response] GO:0045590[negative regulation of regulatory T cell differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050776[regulation of immune response] GO:0051607[defense response to virus] GO:0051726[regulation of cell cycle] GO:0060333[type II interferon-mediated signaling pathway] GO:0071260[cellular response to mechanical stimulus] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000564[regulation of CD8-positive, alpha-beta T cell proliferation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Cancers Cancers of the lung and pleura Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] 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:0002376[immune system process] GO:0002819[regulation of adaptive immune response] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0032481[positive regulation of type I interferon production] GO:0032728[positive regulation of interferon-beta production] GO:0034124[regulation of MyD88-dependent toll-like receptor signaling pathway] GO:0035458[cellular response to interferon-beta] GO:0045087[innate immune response] GO:0045088[regulation of innate immune response] GO:0045590[negative regulation of regulatory T cell differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050776[regulation of immune response] GO:0051607[defense response to virus] GO:0051726[regulation of cell cycle] GO:0060333[type II interferon-mediated signaling pathway] GO:0071260[cellular response to mechanical stimulus] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000564[regulation of CD8-positive, alpha-beta T cell proliferation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the lung and pleura
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GO:0003700[DNA-binding transcription factor activity] GO:0006355[regulation of DNA-templated transcription] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0050776[regulation of immune response]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the lung and pleura
Show all
GO:0003700[DNA-binding transcription factor activity] GO:0006355[regulation of DNA-templated transcription] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0050776[regulation of immune response]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the lung and pleura
Show all
GO:0003700[DNA-binding transcription factor activity] GO:0006355[regulation of DNA-templated transcription] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0050776[regulation of immune response]
The Human Protein Atlas project is funded
