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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.
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
19
Cytoband
q13.33
Chromosome location (bp)
50329653 - 50383388
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity 1. Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Induces LPCAT3-dependent phospholipid remodeling in endoplasmic reticulum (ER) membranes of hepatocytes, driving SREBF1 processing and lipogenesis (By similarity). Via LPCAT3, triggers the incorporation of arachidonate into phosphatidylcholines of ER membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles (By similarity). Via LPCAT3 also counteracts lipid-induced ER stress response and inflammation, likely by modulating SRC kinase membrane compartmentalization and limiting the synthesis of lipid inflammatory mediators (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
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.
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes Mapped to neXtProt neXtProt - Evidence at protein level 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:0000981[DNA-binding transcription factor 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:0004879[nuclear receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006629[lipid metabolic process] GO:0008270[zinc ion binding] GO:0009755[hormone-mediated signaling pathway] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010745[negative regulation of macrophage derived foam cell differentiation] GO:0010867[positive regulation of triglyceride biosynthetic process] GO:0010875[positive regulation of cholesterol efflux] GO:0010884[positive regulation of lipid storage] GO:0010887[negative regulation of cholesterol storage] GO:0030154[cell differentiation] GO:0031490[chromatin DNA binding] GO:0031667[response to nutrient levels] GO:0032369[negative regulation of lipid transport] GO:0032376[positive regulation of cholesterol transport] GO:0034191[apolipoprotein A-I receptor binding] GO:0036151[phosphatidylcholine acyl-chain remodeling] GO:0042632[cholesterol homeostasis] GO:0042789[mRNA transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:0044255[cellular lipid metabolic process] GO:0045723[positive regulation of fatty acid biosynthetic process] GO:0045861[negative regulation of proteolysis] 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:0046872[metal ion binding] GO:0046965[nuclear retinoid X receptor binding] GO:0048384[retinoic acid receptor signaling pathway] GO:0048550[negative regulation of pinocytosis] GO:0051006[positive regulation of lipoprotein lipase activity] GO:0051117[ATPase binding] GO:0051247[positive regulation of protein metabolic process] GO:0055088[lipid homeostasis] GO:0060336[negative regulation of interferon-gamma-mediated signaling pathway] GO:0090108[positive regulation of high-density lipoprotein particle assembly] GO:0090187[positive regulation of pancreatic juice secretion] GO:0090340[positive regulation of secretion of lysosomal enzymes] GO:0090575[RNA polymerase II transcription regulator complex] GO:0120163[negative regulation of cold-induced thermogenesis] GO:1902895[positive regulation of miRNA transcription] GO:1903573[negative regulation of response to endoplasmic reticulum stress]
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver 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: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: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:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006629[lipid metabolic process] GO:0008270[zinc ion binding] GO:0009755[hormone-mediated signaling pathway] GO:0010745[negative regulation of macrophage derived foam cell differentiation] GO:0010867[positive regulation of triglyceride biosynthetic process] GO:0010875[positive regulation of cholesterol efflux] GO:0010887[negative regulation of cholesterol storage] GO:0030154[cell differentiation] GO:0032369[negative regulation of lipid transport] GO:0032376[positive regulation of cholesterol transport] GO:0034191[apolipoprotein A-I receptor binding] GO:0036151[phosphatidylcholine acyl-chain remodeling] GO:0042632[cholesterol homeostasis] GO:0042789[mRNA transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:0045723[positive regulation of fatty acid biosynthetic process] 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:0046872[metal ion binding] GO:0048550[negative regulation of pinocytosis] GO:0051006[positive regulation of lipoprotein lipase activity] GO:0051117[ATPase binding] GO:0051247[positive regulation of protein metabolic process] GO:0060336[negative regulation of interferon-gamma-mediated signaling pathway] GO:0090575[RNA polymerase II transcription regulator complex] GO:0120163[negative regulation of cold-induced thermogenesis] GO:1903573[negative regulation of response to endoplasmic reticulum stress]
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver 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: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: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:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006629[lipid metabolic process] GO:0008270[zinc ion binding] GO:0009755[hormone-mediated signaling pathway] GO:0010745[negative regulation of macrophage derived foam cell differentiation] GO:0010867[positive regulation of triglyceride biosynthetic process] GO:0010875[positive regulation of cholesterol efflux] GO:0010887[negative regulation of cholesterol storage] GO:0030154[cell differentiation] GO:0032369[negative regulation of lipid transport] GO:0032376[positive regulation of cholesterol transport] GO:0034191[apolipoprotein A-I receptor binding] GO:0036151[phosphatidylcholine acyl-chain remodeling] GO:0042632[cholesterol homeostasis] GO:0042789[mRNA transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:0045723[positive regulation of fatty acid biosynthetic process] 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:0046872[metal ion binding] GO:0048550[negative regulation of pinocytosis] GO:0051006[positive regulation of lipoprotein lipase activity] GO:0051117[ATPase binding] GO:0051247[positive regulation of protein metabolic process] GO:0060336[negative regulation of interferon-gamma-mediated signaling pathway] GO:0090575[RNA polymerase II transcription regulator complex] GO:0120163[negative regulation of cold-induced thermogenesis] GO:1903573[negative regulation of response to endoplasmic reticulum stress]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver 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: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: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:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006629[lipid metabolic process] GO:0008270[zinc ion binding] GO:0009755[hormone-mediated signaling pathway] GO:0010745[negative regulation of macrophage derived foam cell differentiation] GO:0010867[positive regulation of triglyceride biosynthetic process] GO:0010875[positive regulation of cholesterol efflux] GO:0010887[negative regulation of cholesterol storage] GO:0030154[cell differentiation] GO:0032369[negative regulation of lipid transport] GO:0032376[positive regulation of cholesterol transport] GO:0034191[apolipoprotein A-I receptor binding] GO:0036151[phosphatidylcholine acyl-chain remodeling] GO:0042632[cholesterol homeostasis] GO:0042789[mRNA transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:0045723[positive regulation of fatty acid biosynthetic process] 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:0046872[metal ion binding] GO:0048550[negative regulation of pinocytosis] GO:0051006[positive regulation of lipoprotein lipase activity] GO:0051117[ATPase binding] GO:0051247[positive regulation of protein metabolic process] GO:0060336[negative regulation of interferon-gamma-mediated signaling pathway] GO:0090575[RNA polymerase II transcription regulator complex] GO:0120163[negative regulation of cold-induced thermogenesis] GO:1903573[negative regulation of response to endoplasmic reticulum stress]
The Human Protein Atlas project is funded
