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Entry version 152 (13 Feb 2019)
Sequence version 2 (10 Jan 2003)
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Protein

Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

Gene

LFNG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei129SubstrateBy similarity1
Binding sitei201SubstrateBy similarity1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi202ManganeseBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei290By similarity1
Metal bindingi314ManganeseBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, Glycosyltransferase, Transferase
LigandManganese, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1912420 Pre-NOTCH Processing in Golgi
R-HSA-5083630 Defective LFNG causes SCDO3

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8NES3

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8NES3

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT31 Glycosyltransferase Family 31

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LFNG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000106003.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6560 LFNG

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602576 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NES3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 8CytoplasmicSequence analysis8
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei9 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini30 – 379LumenalSequence analysisAdd BLAST350

Keywords - Cellular componenti

Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
See also OMIM:609813
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_025850188F → 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, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
3955

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
LFNG

MalaCards human disease database

More...
MalaCardsi
LFNG
MIMi609813 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000106003

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2311 Autosomal recessive spondylocostal dysostosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30336

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LFNG

Domain mapping of disease mutations (DMDM)

More...
DMDMi
27734417

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002191761 – 379Beta-1,3-N-acetylglucosaminyltransferase lunatic fringeAdd BLAST379

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi167N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi168 ↔ 179By similarity
Disulfide bondi197 ↔ 260By similarity
Disulfide bondi364 ↔ 373By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

A soluble form may be derived from the membrane form by proteolytic processing.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei86 – 87Cleavage; by furin-like proteaseSequence analysis2

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NES3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NES3

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NES3

PeptideAtlas

More...
PeptideAtlasi
Q8NES3

PRoteomics IDEntifications database

More...
PRIDEi
Q8NES3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73208
73209 [Q8NES3-2]
73210 [Q8NES3-3]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1031

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NES3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NES3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000106003 Expressed in 174 organ(s), highest expression level in vagina

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NES3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NES3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA069130

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110146, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000222725

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8NES3

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8NES3

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410II9W Eukaryota
ENOG410XS8Y LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158717

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000046678

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG007986

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NES3

KEGG Orthology (KO)

More...
KOi
K05948

Identification of Orthologs from Complete Genome Data

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OMAi
MKPWASG

Database of Orthologous Groups

More...
OrthoDBi
826272at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NES3

TreeFam database of animal gene trees

More...
TreeFami
TF324207

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR017374 Fringe
IPR003378 Fringe-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02434 Fringe, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF038073 B-acetylgalactosaminyltfrase, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:379
Mass (Da):41,773
Last modified:January 10, 2003 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4400ECA731B36B45
GO
Isoform 2 (identifier: Q8NES3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-129: Missing.
     130-145: LDLLLETWISRHKEMT → MTPGRCCLAADIQVET

Show »
Length:250
Mass (Da):28,151
Checksum:iE09162F8B0016412
GO
Isoform 3 (identifier: Q8NES3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     359-361: FRS → WGN
     362-379: Missing.

Show »
Length:361
Mass (Da):39,588
Checksum:iAC5CE1662524395B
GO
Isoform 4 (identifier: Q8NES3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: MLKRCGRRLL...PGALVRDVHS → MDEQTGRLRL...RSYGGGLSQQ
     74-144: Missing.

Note: No experimental confirmation available.
Show »
Length:308
Mass (Da):35,266
Checksum:i2FE290EDD113DD28
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X191A0A087X191_HUMAN
Beta-1,3-N-acetylglucosaminyltransf...
LFNG
248Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti104R → A in AAF07187 (Ref. 5) Curated1
Sequence conflicti212R → L in AAC51360 (PubMed:9187150).Curated1
Sequence conflicti221R → L in AAC51360 (PubMed:9187150).Curated1
Sequence conflicti297V → M in BAG53248 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04678538G → R1 Publication1
Natural variantiVAR_025850188F → 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_046786346V → M1 PublicationCorresponds to variant dbSNP:rs71647813Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0017921 – 129Missing in isoform 2. 1 PublicationAdd BLAST129
Alternative sequenceiVSP_0448501 – 73MLKRC…RDVHS → MDEQTGRLRLDTYCMSAKQI WAWSKCSGRLWDEHMKWMEG WTDRWTDGWMDGWMDEWSPT PALRSYGGGLSQQ in isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_04485174 – 144Missing in isoform 4. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_001793130 – 145LDLLL…HKEMT → MTPGRCCLAADIQVET in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_001794359 – 361FRS → WGN in isoform 3. 2 Publications3
Alternative sequenceiVSP_001795362 – 379Missing in isoform 3. 2 PublicationsAdd BLAST18

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34586.1 [Q8NES3-3]
CCDS34587.1 [Q8NES3-1]
CCDS55081.1 [Q8NES3-4]
CCDS55082.1 [Q8NES3-2]

NCBI Reference Sequences

More...
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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.159142

Genome annotation databases

Ensembl eukaryotic genome annotation project

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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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3955

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3955

UCSC genome browser

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UCSCi
uc003smf.4 human [Q8NES3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
CCDSiCCDS34586.1 [Q8NES3-3]
CCDS34587.1 [Q8NES3-1]
CCDS55081.1 [Q8NES3-4]
CCDS55082.1 [Q8NES3-2]
RefSeqiNP_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]
UniGeneiHs.159142

3D structure databases

ProteinModelPortaliQ8NES3
SMRiQ8NES3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110146, 4 interactors
STRINGi9606.ENSP00000222725

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

PTM databases

GlyConnecti1031
iPTMnetiQ8NES3
PhosphoSitePlusiQ8NES3

Polymorphism and mutation databases

BioMutaiLFNG
DMDMi27734417

Proteomic databases

jPOSTiQ8NES3
MaxQBiQ8NES3
PaxDbiQ8NES3
PeptideAtlasiQ8NES3
PRIDEiQ8NES3
ProteomicsDBi73208
73209 [Q8NES3-2]
73210 [Q8NES3-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222725; ENSP00000222725; ENSG00000106003 [Q8NES3-1]
ENST00000338732; ENSP00000343095; ENSG00000106003 [Q8NES3-2]
ENST00000359574; ENSP00000352579; ENSG00000106003 [Q8NES3-3]
ENST00000402045; ENSP00000384786; ENSG00000106003 [Q8NES3-2]
ENST00000402506; ENSP00000385764; ENSG00000106003 [Q8NES3-4]
GeneIDi3955
KEGGihsa:3955
UCSCiuc003smf.4 human [Q8NES3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3955
DisGeNETi3955
EuPathDBiHostDB:ENSG00000106003.12

GeneCards: human genes, protein and diseases

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GeneCardsi
LFNG
GeneReviewsiLFNG
HGNCiHGNC:6560 LFNG
HPAiHPA069130
MalaCardsiLFNG
MIMi602576 gene
609813 phenotype
neXtProtiNX_Q8NES3
OpenTargetsiENSG00000106003
Orphaneti2311 Autosomal recessive spondylocostal dysostosis
PharmGKBiPA30336

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410II9W Eukaryota
ENOG410XS8Y LUCA
GeneTreeiENSGT00940000158717
HOGENOMiHOG000046678
HOVERGENiHBG007986
InParanoidiQ8NES3
KOiK05948
OMAiMKPWASG
OrthoDBi826272at2759
PhylomeDBiQ8NES3
TreeFamiTF324207

Enzyme and pathway databases

ReactomeiR-HSA-1912420 Pre-NOTCH Processing in Golgi
R-HSA-5083630 Defective LFNG causes SCDO3
SignaLinkiQ8NES3
SIGNORiQ8NES3

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
LFNG human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LFNG

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3955

Protein Ontology

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PROi
PR:Q8NES3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106003 Expressed in 174 organ(s), highest expression level in vagina
ExpressionAtlasiQ8NES3 baseline and differential
GenevisibleiQ8NES3 HS

Family and domain databases

InterProiView protein in InterPro
IPR017374 Fringe
IPR003378 Fringe-like
PfamiView protein in Pfam
PF02434 Fringe, 1 hit
PIRSFiPIRSF038073 B-acetylgalactosaminyltfrase, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLFNG_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NES3
Secondary accession number(s): B3KTY6
, B5MCR5, O00589, Q96C39, Q9UJW5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: January 10, 2003
Last modified: February 13, 2019
This is version 152 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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