InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LFNG

Summary

InnateDB Protein

IDBP-292525.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LFNG

Protein Name

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

SCDO3;

Species

Homo sapiens

Ensembl Protein

ENSP00000384786

InnateDB Gene

IDBG-6980 (LFNG)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.

Disease Associations

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. {ECO:0000269PubMed:16385447}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0016757	transferase activity, transferring glycosyl groups
GO:0033829	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity
GO:0046872	metal ion binding

Biological Process

GO:0007219	Notch signaling pathway
GO:0008152	metabolic process
GO:0008593	regulation of Notch signaling pathway
GO:0009887	organ morphogenesis
GO:0014807	regulation of somitogenesis