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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 Enzymes Human disease related genes Metabolic proteins Potential drug targets
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
X
Cytoband
q13.1
Chromosome location (bp)
71533087 - 71575892
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc) 1,2,3,4,5,6,7,8,9,10,11,12,13. Glycosylates a large and diverse number of proteins including histone H2B, AKT1, AMPK, ATG4B, CAPRIN1, EZH2, FNIP1, GSDMD, KRT7, LMNA, LMNB1, LMNB2, RPTOR, HOXA1, PFKL, KMT2E/MLL5, MAPT/TAU, TET2, RBL2, RET, NOD2 and HCFC1 14,15,16,17,18,19,20,21,22,23,24,25,26,27,28. Can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing 29. Involved in insulin resistance in muscle and adipocyte cells via glycosylating insulin signaling components and inhibiting the 'Thr-308' phosphorylation of AKT1, enhancing IRS1 phosphorylation and attenuating insulin signaling (By similarity). Involved in glycolysis regulation by mediating glycosylation of 6-phosphofructokinase PFKL, inhibiting its activity 30. Plays a key role in chromatin structure by mediating O-GlcNAcylation of 'Ser-112' of histone H2B: recruited to CpG-rich transcription start sites of active genes via its interaction with TET proteins (TET1, TET2 or TET3) 31,32. As part of the NSL complex indirectly involved in acetylation of nucleosomal histone H4 on several lysine residues 33. O-GlcNAcylation of 'Ser-75' of EZH2 increases its stability, and facilitating the formation of H3K27me3 by the PRC2/EED-EZH2 complex 34. Stabilizes KMT2E/MLL5 by mediating its glycosylation, thereby preventing KMT2E/MLL5 ubiquitination 35. Regulates circadian oscillation of the clock genes and glucose homeostasis in the liver (By similarity). Stabilizes clock proteins BMAL1 and CLOCK through O-glycosylation, which prevents their ubiquitination and subsequent degradation (By similarity). Promotes the CLOCK-BMAL1-mediated transcription of genes in the negative loop of the circadian clock such as PER1/2 and CRY1/2. O-glycosylates HCFC1 and regulates its proteolytic processing and transcriptional activity 36,37,38. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 39. Regulates mitochondrial motility in neurons by mediating glycosylation of TRAK1 (By similarity). Promotes autophagy by mediating O-glycosylation of ATG4B 40. Acts as a regulator of mTORC1 signaling by mediating O-glycosylation of RPTOR and FNIP1: O-GlcNAcylation of RPTOR in response to glucose sufficiency promotes activation of the mTORC1 complex 41,42....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Lipid-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]...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.
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000123[histone acetyltransferase complex] GO:0000423[mitophagy] GO:0005515[protein binding] GO:0005547[phosphatidylinositol-3,4,5-trisphosphate binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006110[regulation of glycolytic process] GO:0006111[regulation of gluconeogenesis] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006486[protein glycosylation] GO:0006493[protein O-linked glycosylation] GO:0006915[apoptotic process] GO:0007165[signal transduction] GO:0007584[response to nutrient] GO:0008289[lipid binding] GO:0008375[acetylglucosaminyltransferase activity] GO:0016020[membrane] GO:0016485[protein processing] GO:0016580[Sin3 complex] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0017122[protein N-acetylglucosaminyltransferase complex] GO:0030097[hemopoiesis] GO:0030336[negative regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0031397[negative regulation of protein ubiquitination] GO:0031966[mitochondrial membrane] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032868[response to insulin] GO:0032922[circadian regulation of gene expression] GO:0032991[protein-containing complex] GO:0035020[regulation of Rac protein signal transduction] GO:0042995[cell projection] GO:0043981[histone H4-K5 acetylation] GO:0043982[histone H4-K8 acetylation] GO:0043984[histone H4-K16 acetylation] GO:0044545[NSL complex] GO:0045862[positive regulation of proteolysis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046626[regulation of insulin receptor signaling pathway] GO:0048015[phosphatidylinositol-mediated signaling] GO:0048511[rhythmic process] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0060544[regulation of necroptotic process] GO:0061087[positive regulation of histone H3-K27 methylation] GO:0097363[protein O-GlcNAc transferase activity] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900095[regulation of dosage compensation by inactivation of X chromosome] GO:1902455[negative regulation of stem cell population maintenance] GO:1902459[positive regulation of stem cell population maintenance]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000123[histone acetyltransferase complex] GO:0000423[mitophagy] GO:0005515[protein binding] GO:0005547[phosphatidylinositol-3,4,5-trisphosphate binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006110[regulation of glycolytic process] GO:0006111[regulation of gluconeogenesis] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006486[protein glycosylation] GO:0006493[protein O-linked glycosylation] GO:0006915[apoptotic process] GO:0007165[signal transduction] GO:0007584[response to nutrient] GO:0008289[lipid binding] GO:0008375[acetylglucosaminyltransferase activity] GO:0016020[membrane] GO:0016485[protein processing] GO:0016580[Sin3 complex] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0017122[protein N-acetylglucosaminyltransferase complex] GO:0030097[hemopoiesis] GO:0030336[negative regulation of cell migration] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0031397[negative regulation of protein ubiquitination] GO:0031490[chromatin DNA binding] GO:0031966[mitochondrial membrane] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032868[response to insulin] GO:0032922[circadian regulation of gene expression] GO:0032991[protein-containing complex] GO:0035020[regulation of Rac protein signal transduction] GO:0042995[cell projection] GO:0043981[histone H4-K5 acetylation] GO:0043982[histone H4-K8 acetylation] GO:0043984[histone H4-K16 acetylation] GO:0044545[NSL complex] GO:0045202[synapse] GO:0045862[positive regulation of proteolysis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046626[regulation of insulin receptor signaling pathway] GO:0048015[phosphatidylinositol-mediated signaling] GO:0048511[rhythmic process] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051963[regulation of synapse assembly] GO:0060544[regulation of necroptotic process] GO:0061087[positive regulation of histone H3-K27 methylation] GO:0097363[protein O-GlcNAc transferase activity] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane] GO:0098978[glutamatergic synapse] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1900095[regulation of dosage compensation by inactivation of X chromosome] GO:1902455[negative regulation of stem cell population maintenance] GO:1902459[positive regulation of stem cell population maintenance]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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