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Q8NES3 (LFNG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

EC=2.4.1.222
Alternative name(s):
O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Gene names
Name:LFNG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length379 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that of DELTA1. Essential mediator of somite segmentation and patterning By similarity.

Catalytic activity

Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.

Cofactor

Manganese By similarity.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein By similarity.

Post-translational modification

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

Involvement in disease

Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the glycosyltransferase 31 family.

Ontologies

Keywords
   Cellular componentGolgi apparatus
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Dwarfism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   LigandManganese
Metal-binding
   Molecular functionDevelopmental protein
Glycosyltransferase
Transferase
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processNotch signaling pathway

Traceable author statement. Source: Reactome

compartment pattern specification

Inferred from electronic annotation. Source: Ensembl

female meiotic division

Inferred from electronic annotation. Source: Ensembl

metabolic process

Inferred from sequence or structural similarity. Source: GOC

organ morphogenesis

Non-traceable author statement PubMed 10341080. Source: UniProtKB

ovarian follicle development

Inferred from electronic annotation. Source: Ensembl

positive regulation of Notch signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein binding

Inferred from electronic annotation. Source: Ensembl

regulation of Notch signaling pathway

Inferred from sequence or structural similarity. Source: UniProt

regulation of somitogenesis

Inferred from mutant phenotype PubMed 19061953. Source: UniProt

somitogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentextracellular region

Non-traceable author statement PubMed 10341080. Source: UniProtKB

integral component of Golgi membrane

Inferred from electronic annotation. Source: InterPro

   Molecular_functionO-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity

Inferred from sequence or structural similarity. Source: UniProt

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q8NES3-1)

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.
Isoform 2 (identifier: Q8NES3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-129: Missing.
     130-145: LDLLLETWISRHKEMT → MTPGRCCLAADIQVET
Isoform 3 (identifier: Q8NES3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     359-361: FRS → WGN
     362-379: Missing.
Isoform 4 (identifier: Q8NES3-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 379379Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
PRO_0000219176

Regions

Topological domain1 – 88Cytoplasmic Potential
Transmembrane9 – 2921Helical; Signal-anchor for type II membrane protein; Potential
Topological domain30 – 379350Lumenal Potential

Sites

Active site2901 By similarity
Metal binding2021Manganese By similarity
Metal binding3141Manganese By similarity
Binding site1291Substrate By similarity
Binding site2011Substrate By similarity
Site86 – 872Cleavage; by furin-like protease Potential

Amino acid modifications

Glycosylation1671N-linked (GlcNAc...) Potential
Disulfide bond168 ↔ 179 By similarity
Disulfide bond197 ↔ 260 By similarity
Disulfide bond364 ↔ 373 By similarity

Natural variations

Alternative sequence1 – 129129Missing in isoform 2.
VSP_001792
Alternative sequence1 – 7373MLKRC…RDVHS → MDEQTGRLRLDTYCMSAKQI WAWSKCSGRLWDEHMKWMEG WTDRWTDGWMDGWMDEWSPT PALRSYGGGLSQQ in isoform 4.
VSP_044850
Alternative sequence74 – 14471Missing in isoform 4.
VSP_044851
Alternative sequence130 – 14516LDLLL…HKEMT → MTPGRCCLAADIQVET in isoform 2.
VSP_001793
Alternative sequence359 – 3613FRS → WGN in isoform 3.
VSP_001794
Alternative sequence362 – 37918Missing in isoform 3.
VSP_001795
Natural variant381G → R. Ref.9
VAR_046785
Natural variant1881F → L in SCDO3; not localized to the correct compartment of the cell; unable to modulate Notch signaling in a cell-based assay; enzymatically inactive. Ref.8
VAR_025850
Natural variant3461V → M. Ref.9
Corresponds to variant rs71647813 [ dbSNP | Ensembl ].
VAR_046786

Experimental info

Sequence conflict1041R → A in AAF07187. Ref.5
Sequence conflict2121R → L in AAC51360. Ref.3
Sequence conflict2211R → L in AAC51360. Ref.3
Sequence conflict2971V → M in BAG53248. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 10, 2003. Version 2.
Checksum: 4400ECA731B36B45

FASTA37941,773
        10         20         30         40         50         60 
MLKRCGRRLL LALAGALLAC LLVLTADPPP PPLPAERGRR ALRSLAGPAG AAPAPGLGAA 

        70         80         90        100        110        120 
AAAPGALVRD VHSLSEYFSL LTRARRDAGP PPGAAPRPAD GHPRPLAEPL APRDVFIAVK 

       130        140        150        160        170        180 
TTKKFHRARL DLLLETWISR HKEMTFIFTD GEDEALARHT GNVVITNCSA AHSRQALSCK 

       190        200        210        220        230        240 
MAVEYDRFIE SGRKWFCHVD DDNYVNLRAL LRLLASYPHT RDVYVGKPSL DRPIQAMERV 

       250        260        270        280        290        300 
SENKVRPVHF WFATGGAGFC ISRGLALKMS PWASGGHFMN TAERIRLPDD CTIGYIVEAL 

       310        320        330        340        350        360 
LGVPLIRSGL FHSHLENLQQ VPTSELHEQV TLSYGMFENK RNAVHVKGPF SVEADPSRFR 

       370 
SIHCHLYPDT PWCPRTAIF 

« Hide

Isoform 2 [UniParc].

Checksum: E09162F8B0016412
Show »

FASTA25028,151
Isoform 3 [UniParc].

Checksum: AC5CE1662524395B
Show »

FASTA36139,588
Isoform 4 [UniParc].

Checksum: 2FE290EDD113DD28
Show »

FASTA30835,266

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway."
Johnston S.H., Rauskolb C., Wilson R., Prabhakaran B., Irvine K.D., Vogt T.F.
Development 124:2245-2254(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 105-361 (ISOFORM 3).
[4]"Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis."
Cole S.E., Levorse J.M., Tilghman S.M., Vogt T.F.
Dev. Cell 3:75-84(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-144 (ISOFORM 1).
[5]"Homo sapiens fringe gene homolog."
Holloway J., Blumberg H., Jelinek L., Whitmore T., Jaspers S., Gross J., Haldeman B., Taft D., O'Hara P.
Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 104-361 (ISOFORM 3).
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Kidney.
[7]"Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation."
Shimizu K., Chiba S., Saito T., Kumano K., Takahashi T., Hirai H.
J. Biol. Chem. 276:25753-25758(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION.
[8]"Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype."
Sparrow D.B., Chapman G., Wouters M.A., Whittock N.V., Ellard S., Fatkin D., Turnpenny P.D., Kusumi K., Sillence D., Dunwoodie S.L.
Am. J. Hum. Genet. 78:28-37(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SCDO3 LEU-188, CHARACTERIZATION OF VARIANT SCDO3 LEU-188.
[9]"Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome."
Cornier A.S., Staehling-Hampton K., Delventhal K.M., Saga Y., Caubet J.-F., Sasaki N., Ellard S., Young E., Ramirez N., Carlo S.E., Torres J., Emans J.B., Turnpenny P.D., Pourquie O.
Am. J. Hum. Genet. 82:1334-1341(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARG-38 AND MET-346.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS34586.1. [Q8NES3-3]
CCDS34587.1. [Q8NES3-1]
CCDS55081.1. [Q8NES3-4]
CCDS55082.1. [Q8NES3-2]
RefSeqNP_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]
UniGeneHs.159142.

3D structure databases

ProteinModelPortalQ8NES3.
SMRQ8NES3. Positions 114-374.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110146. 3 interactions.
STRING9606.ENSP00000222725.

Protein family/group databases

CAZyGT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSiteQ8NES3.

Polymorphism databases

DMDM27734417.

Proteomic databases

PaxDbQ8NES3.
PRIDEQ8NES3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000222725; ENSP00000222725; ENSG00000106003. [Q8NES3-1]
ENST00000338732; ENSP00000343095; ENSG00000106003. [Q8NES3-2]
ENST00000359574; ENSP00000352579; ENSG00000106003. [Q8NES3-3]
ENST00000402045; ENSP00000384786; ENSG00000106003. [Q8NES3-2]
ENST00000402506; ENSP00000385764; ENSG00000106003. [Q8NES3-4]
GeneID3955.
KEGGhsa:3955.
UCSCuc003smf.3. human. [Q8NES3-1]
uc003smg.3. human. [Q8NES3-3]
uc021zyx.1. human. [Q8NES3-2]

Organism-specific databases

CTD3955.
GeneCardsGC07P002552.
GeneReviewsLFNG.
HGNCHGNC:6560. LFNG.
MIM602576. gene.
609813. phenotype.
neXtProtNX_Q8NES3.
Orphanet2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBPA30336.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70217.
HOGENOMHOG000046678.
HOVERGENHBG007986.
InParanoidQ8NES3.
KOK05948.
OMAPWASRGH.
OrthoDBEOG7ZSHTD.
PhylomeDBQ8NES3.
TreeFamTF324207.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
SignaLinkQ8NES3.

Gene expression databases

BgeeQ8NES3.
CleanExHS_LFNG.
GenevestigatorQ8NES3.

Family and domain databases

InterProIPR017374. Fringe.
IPR003378. Fringe-like.
[Graphical view]
PfamPF02434. Fringe. 1 hit.
[Graphical view]
PIRSFPIRSF038073. B-acetylgalactosaminyltfrase. 1 hit.
ProtoNetSearch...

Other

ChiTaRSLFNG. human.
GeneWikiLFNG.
GenomeRNAi3955.
NextBio15517.
PROQ8NES3.
SOURCESearch...

Entry information

Entry nameLFNG_HUMAN
AccessionPrimary (citable) accession number: Q8NES3
Secondary accession number(s): B3KTY6 expand/collapse secondary AC list , B5MCR5, O00589, Q96C39, Q9UJW5
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: January 10, 2003
Last modified: July 9, 2014
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM