UniProtKB - Q8NES3 (LFNG_HUMAN)
Protein
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
Gene
LFNG
Organism
Homo sapiens (Human)
Status
Functioni
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 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity).By similarity1 Publication
Catalytic activityi
- Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor. EC:2.4.1.222
Cofactori
Mn2+By similarity
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 129 | SubstrateBy similarity | 1 | |
Binding sitei | 201 | SubstrateBy similarity | 1 | |
Metal bindingi | 202 | ManganeseBy similarity | 1 | |
Active sitei | 290 | By similarity | 1 | |
Metal bindingi | 314 | ManganeseBy similarity | 1 |
GO - Molecular functioni
- acetylglucosaminyltransferase activity Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity Source: FlyBase
GO - Biological processi
- animal organ morphogenesis Source: UniProtKB
- compartment pattern specification Source: Ensembl
- marginal zone B cell differentiation Source: UniProtKB
- negative regulation of Notch signaling pathway involved in somitogenesis Source: UniProtKB
- ovarian follicle development Source: Ensembl
- positive regulation of meiotic cell cycle Source: Ensembl
- positive regulation of Notch signaling pathway Source: Ensembl
- positive regulation of protein binding Source: Ensembl
- regulation of Notch signaling pathway Source: UniProtKB
- regulation of somitogenesis Source: UniProtKB
- somitogenesis Source: UniProtKB
- T cell differentiation Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, Glycosyltransferase, Transferase |
Ligand | Manganese, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8NES3 |
Reactomei | R-HSA-1912420, Pre-NOTCH Processing in Golgi R-HSA-5083630, Defective LFNG causes SCDO3 |
SignaLinki | Q8NES3 |
SIGNORi | Q8NES3 |
Protein family/group databases
CAZyi | GT31, Glycosyltransferase Family 31 |
Names & Taxonomyi
Protein namesi | Recommended name: Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (EC:2.4.1.222)Alternative name(s): O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
Gene namesi | Name:LFNG |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000106003.12 |
HGNCi | HGNC:6560, LFNG |
MIMi | 602576, gene |
neXtProti | NX_Q8NES3 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane By similarity; Single-pass type II membrane protein By similarity
Extracellular region or secreted
- extracellular region Source: UniProtKB
- extracellular vesicle Source: UniProtKB
Golgi apparatus
- integral component of Golgi membrane Source: InterPro
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 8 | CytoplasmicSequence analysis | 8 | |
Transmembranei | 9 – 29 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 30 – 379 | LumenalSequence analysisAdd BLAST | 350 |
Keywords - Cellular componenti
Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Spondylocostal dysostosis 3, autosomal recessive (SCDO3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025850 | 188 | F → L in SCDO3; not localized to the correct compartment of the cell; unable to modulate Notch signaling in a cell-based assay; enzymatically inactive. 1 PublicationCorresponds to variant dbSNP:rs104894024EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, DwarfismOrganism-specific databases
DisGeNETi | 3955 |
GeneReviewsi | LFNG |
MalaCardsi | LFNG |
MIMi | 609813, phenotype |
OpenTargetsi | ENSG00000106003 |
Orphaneti | 2311, Autosomal recessive spondylocostal dysostosis |
PharmGKBi | PA30336 |
Miscellaneous databases
Pharosi | Q8NES3, Tbio |
Polymorphism and mutation databases
BioMutai | LFNG |
DMDMi | 27734417 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000219176 | 1 – 379 | Beta-1,3-N-acetylglucosaminyltransferase lunatic fringeAdd BLAST | 379 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 167 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 168 ↔ 179 | By similarity | ||
Disulfide bondi | 197 ↔ 260 | By similarity | ||
Disulfide bondi | 364 ↔ 373 | By similarity |
Post-translational modificationi
A soluble form may be derived from the membrane form by proteolytic processing.Curated
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 86 – 87 | Cleavage; by furin-like proteaseSequence analysis | 2 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q8NES3 |
MassIVEi | Q8NES3 |
MaxQBi | Q8NES3 |
PaxDbi | Q8NES3 |
PeptideAtlasi | Q8NES3 |
PRIDEi | Q8NES3 |
ProteomicsDBi | 6090 73208 [Q8NES3-1] 73209 [Q8NES3-2] 73210 [Q8NES3-3] |
PTM databases
GlyConnecti | 1031, 1 N-Linked glycan (1 site) |
GlyGeni | Q8NES3, 1 site |
iPTMneti | Q8NES3 |
PhosphoSitePlusi | Q8NES3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000106003, Expressed in vagina and 191 other tissues |
ExpressionAtlasi | Q8NES3, baseline and differential |
Genevisiblei | Q8NES3, HS |
Organism-specific databases
HPAi | ENSG00000106003, Tissue enhanced (pancreas) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 110146, 4 interactors |
STRINGi | 9606.ENSP00000222725 |
Miscellaneous databases
RNActi | Q8NES3, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycosyltransferase 31 family.Curated
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QV30, Eukaryota |
GeneTreei | ENSGT00940000158717 |
HOGENOMi | CLU_056611_1_0_1 |
InParanoidi | Q8NES3 |
OMAi | WCPPQVA |
OrthoDBi | 826272at2759 |
PhylomeDBi | Q8NES3 |
TreeFami | TF324207 |
Family and domain databases
InterProi | View protein in InterPro IPR017374, Fringe IPR003378, Fringe-like |
Pfami | View protein in Pfam PF02434, Fringe, 1 hit |
PIRSFi | PIRSF038073, B-acetylgalactosaminyltfrase, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketNote: Experimental confirmation may be lacking for some isoforms.
This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NES3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLKRCGRRLL LALAGALLAC LLVLTADPPP PPLPAERGRR ALRSLAGPAG
60 70 80 90 100
AAPAPGLGAA AAAPGALVRD VHSLSEYFSL LTRARRDAGP PPGAAPRPAD
110 120 130 140 150
GHPRPLAEPL APRDVFIAVK TTKKFHRARL DLLLETWISR HKEMTFIFTD
160 170 180 190 200
GEDEALARHT GNVVITNCSA AHSRQALSCK MAVEYDRFIE SGRKWFCHVD
210 220 230 240 250
DDNYVNLRAL LRLLASYPHT RDVYVGKPSL DRPIQAMERV SENKVRPVHF
260 270 280 290 300
WFATGGAGFC ISRGLALKMS PWASGGHFMN TAERIRLPDD CTIGYIVEAL
310 320 330 340 350
LGVPLIRSGL FHSHLENLQQ VPTSELHEQV TLSYGMFENK RNAVHVKGPF
360 370
SVEADPSRFR SIHCHLYPDT PWCPRTAIF
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087X191 | A0A087X191_HUMAN | Beta-1,3-N-acetylglucosaminyltransf... | LFNG | 248 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 104 | R → A in AAF07187 (Ref. 5) Curated | 1 | |
Sequence conflicti | 212 | R → L in AAC51360 (PubMed:9187150).Curated | 1 | |
Sequence conflicti | 221 | R → L in AAC51360 (PubMed:9187150).Curated | 1 | |
Sequence conflicti | 297 | V → M in BAG53248 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046785 | 38 | G → R1 Publication | 1 | |
Natural variantiVAR_025850 | 188 | F → L in SCDO3; not localized to the correct compartment of the cell; unable to modulate Notch signaling in a cell-based assay; enzymatically inactive. 1 PublicationCorresponds to variant dbSNP:rs104894024EnsemblClinVar. | 1 | |
Natural variantiVAR_046786 | 346 | V → M1 PublicationCorresponds to variant dbSNP:rs71647813EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001792 | 1 – 129 | Missing in isoform 2. 1 PublicationAdd BLAST | 129 | |
Alternative sequenceiVSP_044850 | 1 – 73 | MLKRC…RDVHS → MDEQTGRLRLDTYCMSAKQI WAWSKCSGRLWDEHMKWMEG WTDRWTDGWMDGWMDEWSPT PALRSYGGGLSQQ in isoform 4. 1 PublicationAdd BLAST | 73 | |
Alternative sequenceiVSP_044851 | 74 – 144 | Missing in isoform 4. 1 PublicationAdd BLAST | 71 | |
Alternative sequenceiVSP_001793 | 130 – 145 | LDLLL…HKEMT → MTPGRCCLAADIQVET in isoform 2. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_001794 | 359 – 361 | FRS → WGN in isoform 3. 2 Publications | 3 | |
Alternative sequenceiVSP_001795 | 362 – 379 | Missing in isoform 3. 2 PublicationsAdd BLAST | 18 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK096284 mRNA Translation: BAG53248.1 AC092488 Genomic DNA No translation available. U94354 mRNA Translation: AAC51360.1 AY124582 Genomic DNA Translation: AAM93542.1 AF193612 mRNA Translation: AAF07187.1 BC014851 mRNA Translation: AAH14851.1 |
CCDSi | CCDS34586.1 [Q8NES3-3] CCDS34587.1 [Q8NES3-1] CCDS55081.1 [Q8NES3-4] CCDS55082.1 [Q8NES3-2] |
RefSeqi | NP_001035257.1, NM_001040167.1 [Q8NES3-1] NP_001035258.1, NM_001040168.1 [Q8NES3-3] NP_001159827.1, NM_001166355.1 [Q8NES3-4] NP_002295.1, NM_002304.2 [Q8NES3-2] |
Genome annotation databases
Ensembli | ENST00000222725; ENSP00000222725; ENSG00000106003 [Q8NES3-1] ENST00000338732; ENSP00000343095; ENSG00000106003 [Q8NES3-2] ENST00000359574; ENSP00000352579; ENSG00000106003 [Q8NES3-3] ENST00000402045; ENSP00000384786; ENSG00000106003 [Q8NES3-2] ENST00000402506; ENSP00000385764; ENSG00000106003 [Q8NES3-4] |
GeneIDi | 3955 |
KEGGi | hsa:3955 |
UCSCi | uc003smf.4, human [Q8NES3-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Functional Glycomics Gateway - GTase Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK096284 mRNA Translation: BAG53248.1 AC092488 Genomic DNA No translation available. U94354 mRNA Translation: AAC51360.1 AY124582 Genomic DNA Translation: AAM93542.1 AF193612 mRNA Translation: AAF07187.1 BC014851 mRNA Translation: AAH14851.1 |
CCDSi | CCDS34586.1 [Q8NES3-3] CCDS34587.1 [Q8NES3-1] CCDS55081.1 [Q8NES3-4] CCDS55082.1 [Q8NES3-2] |
RefSeqi | NP_001035257.1, NM_001040167.1 [Q8NES3-1] NP_001035258.1, NM_001040168.1 [Q8NES3-3] NP_001159827.1, NM_001166355.1 [Q8NES3-4] NP_002295.1, NM_002304.2 [Q8NES3-2] |
3D structure databases
SMRi | Q8NES3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110146, 4 interactors |
STRINGi | 9606.ENSP00000222725 |
Protein family/group databases
CAZyi | GT31, Glycosyltransferase Family 31 |
PTM databases
GlyConnecti | 1031, 1 N-Linked glycan (1 site) |
GlyGeni | Q8NES3, 1 site |
iPTMneti | Q8NES3 |
PhosphoSitePlusi | Q8NES3 |
Polymorphism and mutation databases
BioMutai | LFNG |
DMDMi | 27734417 |
Proteomic databases
jPOSTi | Q8NES3 |
MassIVEi | Q8NES3 |
MaxQBi | Q8NES3 |
PaxDbi | Q8NES3 |
PeptideAtlasi | Q8NES3 |
PRIDEi | Q8NES3 |
ProteomicsDBi | 6090 73208 [Q8NES3-1] 73209 [Q8NES3-2] 73210 [Q8NES3-3] |
Protocols and materials databases
Antibodypediai | 24378, 317 antibodies |
Genome annotation databases
Ensembli | ENST00000222725; ENSP00000222725; ENSG00000106003 [Q8NES3-1] ENST00000338732; ENSP00000343095; ENSG00000106003 [Q8NES3-2] ENST00000359574; ENSP00000352579; ENSG00000106003 [Q8NES3-3] ENST00000402045; ENSP00000384786; ENSG00000106003 [Q8NES3-2] ENST00000402506; ENSP00000385764; ENSG00000106003 [Q8NES3-4] |
GeneIDi | 3955 |
KEGGi | hsa:3955 |
UCSCi | uc003smf.4, human [Q8NES3-1] |
Organism-specific databases
CTDi | 3955 |
DisGeNETi | 3955 |
EuPathDBi | HostDB:ENSG00000106003.12 |
GeneCardsi | LFNG |
GeneReviewsi | LFNG |
HGNCi | HGNC:6560, LFNG |
HPAi | ENSG00000106003, Tissue enhanced (pancreas) |
MalaCardsi | LFNG |
MIMi | 602576, gene 609813, phenotype |
neXtProti | NX_Q8NES3 |
OpenTargetsi | ENSG00000106003 |
Orphaneti | 2311, Autosomal recessive spondylocostal dysostosis |
PharmGKBi | PA30336 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QV30, Eukaryota |
GeneTreei | ENSGT00940000158717 |
HOGENOMi | CLU_056611_1_0_1 |
InParanoidi | Q8NES3 |
OMAi | WCPPQVA |
OrthoDBi | 826272at2759 |
PhylomeDBi | Q8NES3 |
TreeFami | TF324207 |
Enzyme and pathway databases
PathwayCommonsi | Q8NES3 |
Reactomei | R-HSA-1912420, Pre-NOTCH Processing in Golgi R-HSA-5083630, Defective LFNG causes SCDO3 |
SignaLinki | Q8NES3 |
SIGNORi | Q8NES3 |
Miscellaneous databases
BioGRID-ORCSi | 3955, 2 hits in 850 CRISPR screens |
ChiTaRSi | LFNG, human |
GeneWikii | LFNG |
GenomeRNAii | 3955 |
Pharosi | Q8NES3, Tbio |
PROi | PR:Q8NES3 |
RNActi | Q8NES3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106003, Expressed in vagina and 191 other tissues |
ExpressionAtlasi | Q8NES3, baseline and differential |
Genevisiblei | Q8NES3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR017374, Fringe IPR003378, Fringe-like |
Pfami | View protein in Pfam PF02434, Fringe, 1 hit |
PIRSFi | PIRSF038073, B-acetylgalactosaminyltfrase, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LFNG_HUMAN | |
Accessioni | Q8NES3Primary (citable) accession number: Q8NES3 Secondary accession number(s): B3KTY6 Q9UJW5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 10, 2003 |
Last sequence update: | January 10, 2003 | |
Last modified: | December 2, 2020 | |
This is version 162 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations