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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 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
6
Cytoband
q21
Chromosome location (bp)
108559835 - 108684774
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional activator that recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy 1,2,3,4. Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, enters the nucleus following dephosphorylation and binds the promoters of autophagy genes, such as GABARAP1L, MAP1LC3B and ATG12, thereby activating their expression, resulting in proteolysis of skeletal muscle proteins (By similarity). Triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress 5,6. Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation 7. In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription 8. In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription. Also acts as a key regulator of chondrogenic commitment of skeletal progenitor cells in response to lipid availability: when lipids levels are low, translocates to the nucleus and promotes expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Also acts as a key regulator of regulatory T-cells (Treg) differentiation by activating expression of FOXP3 9....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.
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]...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 Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] 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:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006390[mitochondrial transcription] GO:0006417[regulation of translation] GO:0006915[apoptotic process] GO:0008013[beta-catenin binding] GO:0010508[positive regulation of autophagy] GO:0014737[positive regulation of muscle atrophy] GO:0016020[membrane] GO:0019901[protein kinase binding] GO:0030336[negative regulation of cell migration] GO:0031490[chromatin DNA binding] GO:0032991[protein-containing complex] GO:0033209[tumor necrosis factor-mediated signaling pathway] GO:0034246[mitochondrial transcription factor activity] GO:0034599[cellular response to oxidative stress] GO:0042149[cellular response to glucose starvation] GO:0042594[response to starvation] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045591[positive regulation of regulatory T cell differentiation] GO:0045648[positive regulation of erythrocyte differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0070542[response to fatty acid] GO:0090571[RNA polymerase II transcription repressor complex] GO:1902895[positive regulation of miRNA transcription] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] 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:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006390[mitochondrial transcription] GO:0006417[regulation of translation] GO:0006915[apoptotic process] GO:0008013[beta-catenin binding] GO:0010508[positive regulation of autophagy] GO:0014737[positive regulation of muscle atrophy] GO:0016020[membrane] GO:0019901[protein kinase binding] GO:0030336[negative regulation of cell migration] GO:0031490[chromatin DNA binding] GO:0032991[protein-containing complex] GO:0033209[tumor necrosis factor-mediated signaling pathway] GO:0034246[mitochondrial transcription factor activity] GO:0034599[cellular response to oxidative stress] GO:0042149[cellular response to glucose starvation] GO:0042594[response to starvation] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045591[positive regulation of regulatory T cell differentiation] GO:0045648[positive regulation of erythrocyte differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0070542[response to fatty acid] GO:0090571[RNA polymerase II transcription repressor complex] GO:1902895[positive regulation of miRNA transcription] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] 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:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006390[mitochondrial transcription] GO:0006417[regulation of translation] GO:0006915[apoptotic process] GO:0008013[beta-catenin binding] GO:0010508[positive regulation of autophagy] GO:0014737[positive regulation of muscle atrophy] GO:0016020[membrane] GO:0019901[protein kinase binding] GO:0030336[negative regulation of cell migration] GO:0031490[chromatin DNA binding] GO:0032991[protein-containing complex] GO:0033209[tumor necrosis factor-mediated signaling pathway] GO:0034246[mitochondrial transcription factor activity] GO:0034599[cellular response to oxidative stress] GO:0042149[cellular response to glucose starvation] GO:0042594[response to starvation] GO:0043065[positive regulation of apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045591[positive regulation of regulatory T cell differentiation] GO:0045648[positive regulation of erythrocyte differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0070542[response to fatty acid] GO:0090571[RNA polymerase II transcription repressor complex] GO:1902895[positive regulation of miRNA transcription] GO:1990837[sequence-specific double-stranded DNA binding]
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