LFNG

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]

Description

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Tissue specificity

Tissue enhanced (pancreas, skin)

Subcell location

Nuclear membrane, Golgi apparatus

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

7 (2512529 - 2529177)

Ensembl ID

ENSG00000106003  (ver. 103.38)

Orthologs

Mouse Lfng: ENSMUSG00000029570

UniProt

Q8NES3

neXtProt

NX_Q8NES3

Human splice variants
Mouse splice variants

Protein structure