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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 Metabolic proteins 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
8
Cytoband
q13.3
Chromosome location (bp)
70109782 - 70403808
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional coactivator for steroid receptors and nuclear receptors 1,2,3. Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1) 4,5,6. Required with NCOA1 to control energy balance between white and brown adipose tissues 7,8,9. Critical regulator of glucose metabolism regulation, acts as a RORA coactivator to specifically modulate G6PC1 expression 10,11,12. Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3 13. Positively regulates the circadian clock by acting as a transcriptional coactivator for the CLOCK-BMAL1 heterodimer (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator
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 functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]...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.
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes 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:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0001162[RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0005102[signaling receptor binding] 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:0007623[circadian rhythm] GO:0010468[regulation of gene expression] GO:0010906[regulation of glucose metabolic process] GO:0016604[nuclear body] GO:0016922[nuclear receptor binding] GO:0017162[aryl hydrocarbon receptor binding] GO:0019216[regulation of lipid metabolic process] GO:0019904[protein domain specific binding] GO:0030374[nuclear receptor coactivator activity] GO:0032570[response to progesterone] GO:0032870[cellular response to hormone stimulus] GO:0032922[circadian regulation of gene expression] GO:0032991[protein-containing complex] GO:0035357[peroxisome proliferator activated receptor signaling pathway] GO:0042789[mRNA transcription by RNA polymerase II] GO:0045475[locomotor rhythm] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0048511[rhythmic process] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1900076[regulation of cellular response to insulin stimulus] GO:1904017[cellular response to Thyroglobulin triiodothyronine] GO:1904179[positive regulation of adipose tissue development]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
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GO:0003713[transcription coactivator activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0016922[nuclear receptor binding] GO:0030374[nuclear receptor coactivator activity] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
