Human Gene LFNG (ENST00000222725.10) from GENCODE V44
Description: Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA. (from RefSeq NM_001040167) RefSeq Summary (NM_001040167): 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]. Gencode Transcript: ENST00000222725.10 Gencode Gene: ENSG00000106003.14 Transcript (Including UTRs) Position: hg38 chr7:2,519,774-2,528,429 Size: 8,656 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr7:2,519,862-2,527,212 Size: 7,351 Coding Exon Count: 8
ID:LFNG_HUMAN DESCRIPTION: RecName: Full=Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; EC=2.4.1.222; AltName: Full=O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; 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). 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";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8NES3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003674 molecular_function GO:0016740 transferase activity GO:0016757 transferase activity, transferring glycosyl groups GO:0033829 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity GO:0046872 metal ion binding
Biological Process: GO:0001541 ovarian follicle development GO:0001756 somitogenesis GO:0002315 marginal zone B cell differentiation GO:0007275 multicellular organism development GO:0007386 compartment pattern specification GO:0007389 pattern specification process GO:0008593 regulation of Notch signaling pathway GO:0009887 animal organ morphogenesis GO:0014807 regulation of somitogenesis GO:0030217 T cell differentiation GO:0032092 positive regulation of protein binding GO:0036066 protein O-linked fucosylation GO:0045747 positive regulation of Notch signaling pathway GO:0051446 positive regulation of meiotic cell cycle GO:1902367 negative regulation of Notch signaling pathway involved in somitogenesis
US Server
