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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 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
7
Cytoband
p22.3
Chromosome location (bp)
2512529 - 2529177
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 1. Essential mediator of somite segmentation and patterning (By similarity)....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.
Manganese, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]...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.
Enzymes ENZYME proteins Transferases MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system 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:0000139[Golgi membrane] GO:0001541[ovarian follicle development] GO:0001756[somitogenesis] GO:0002315[marginal zone B cell differentiation] GO:0005576[extracellular region] GO:0005794[Golgi apparatus] GO:0007386[compartment pattern specification] GO:0007389[pattern specification process] GO:0008375[acetylglucosaminyltransferase activity] GO:0008593[regulation of Notch signaling pathway] GO:0009887[animal organ morphogenesis] GO:0014807[regulation of somitogenesis] GO:0016020[membrane] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0030173[integral component of Golgi membrane] GO:0030217[T cell differentiation] GO:0032092[positive regulation of protein binding] GO:0033829[O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity] GO:0045747[positive regulation of Notch signaling pathway] GO:0046872[metal ion binding] GO:0051446[positive regulation of meiotic cell cycle] GO:1902367[negative regulation of Notch signaling pathway involved in somitogenesis] GO:1903561[extracellular vesicle]
Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000139[Golgi membrane] GO:0001756[somitogenesis] GO:0002315[marginal zone B cell differentiation] GO:0005576[extracellular region] GO:0005794[Golgi apparatus] GO:0007389[pattern specification process] GO:0008375[acetylglucosaminyltransferase activity] GO:0008593[regulation of Notch signaling pathway] GO:0009887[animal organ morphogenesis] GO:0014807[regulation of somitogenesis] GO:0016020[membrane] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0030217[T cell differentiation] GO:0033829[O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity] GO:0046872[metal ion binding] GO:1902367[negative regulation of Notch signaling pathway involved in somitogenesis] GO:1903561[extracellular vesicle]
Enzymes ENZYME proteins Transferases MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system 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:0000139[Golgi membrane] GO:0001756[somitogenesis] GO:0002315[marginal zone B cell differentiation] GO:0005576[extracellular region] GO:0005794[Golgi apparatus] GO:0007389[pattern specification process] GO:0008375[acetylglucosaminyltransferase activity] GO:0008593[regulation of Notch signaling pathway] GO:0009887[animal organ morphogenesis] GO:0014807[regulation of somitogenesis] GO:0016020[membrane] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0030173[integral component of Golgi membrane] GO:0030217[T cell differentiation] GO:0033829[O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity] GO:0046872[metal ion binding] GO:1902367[negative regulation of Notch signaling pathway involved in somitogenesis] GO:1903561[extracellular vesicle]
Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system 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:0000139[Golgi membrane] GO:0001756[somitogenesis] GO:0002315[marginal zone B cell differentiation] GO:0005576[extracellular region] GO:0005794[Golgi apparatus] GO:0007389[pattern specification process] GO:0008375[acetylglucosaminyltransferase activity] GO:0008593[regulation of Notch signaling pathway] GO:0009887[animal organ morphogenesis] GO:0014807[regulation of somitogenesis] GO:0016020[membrane] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0030217[T cell differentiation] GO:0033829[O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity] GO:0046872[metal ion binding] GO:1902367[negative regulation of Notch signaling pathway involved in somitogenesis] GO:1903561[extracellular vesicle]
Enzymes ENZYME proteins Transferases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139[Golgi membrane] GO:0001756[somitogenesis] GO:0002315[marginal zone B cell differentiation] GO:0005576[extracellular region] GO:0005794[Golgi apparatus] GO:0007389[pattern specification process] GO:0008375[acetylglucosaminyltransferase activity] GO:0008593[regulation of Notch signaling pathway] GO:0009887[animal organ morphogenesis] GO:0014807[regulation of somitogenesis] GO:0016020[membrane] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0030217[T cell differentiation] GO:0033829[O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity] GO:0046872[metal ion binding] GO:1902367[negative regulation of Notch signaling pathway involved in somitogenesis] GO:1903561[extracellular vesicle]
The Human Protein Atlas project is funded
