Linked Life Data

Q8NES3

Source:http://identifiers.org/uniprot/Q8NES3

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
biopax3:comment
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). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q8NES3-1; Sequence=Displayed; Name=2; IsoId=Q8NES3-2; Sequence=VSP_001792, VSP_001793; Name=3; IsoId=Q8NES3-3; Sequence=VSP_001794, VSP_001795; PTM: A soluble form may be derived from the membrane form by proteolytic processing (Potential). DISEASE: Defects in LFNG are the cause of spondylocostal dysostosis type 3 (SCDO3) [MIM:609813]. An autosomal recessive 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. SIMILARITY: Belongs to the glycosyltransferase 31 family. WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GNT1"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LFNG"; WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_551"; GENE SYNONYMS:LFNG. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 379 AA; 41773 MW; 4400ECA731B36B45 CRC64;
biopax3:xref
biopax3:displayName
LFNG_HUMAN
biopax3:name
2.4.1.222, LFNG, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
biopax3:organism
biopax3:sequence
MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRSLAGPAGAAPAPGLGAAAAAPGALVRDVHSLSEYFSLLTRARRDAGPPPGAAPRPADGHPRPLAEPLAPRDVFIAVKTTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHTGNVVITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRDVYVGKPSLDRPIQAMERVSENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPDDCTIGYIVEALLGVPLIRSGLFHSHLENLQQVPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRFRSIHCHLYPDTPWCPRTAIF
biopax3:standardName
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe