LFNG
From Wikipedia, the free encyclopedia
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
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Identifiers | ||||||||||||||
Symbol(s) | LFNG; SCDO3 | |||||||||||||
External IDs | OMIM: 602576 MGI: 1095413 HomoloGene: 22475 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 3955 | 16848 | ||||||||||||
Ensembl | ENSG00000106003 | ENSMUSG00000029570 | ||||||||||||
Uniprot | Q8NES3 | Q08EF2 | ||||||||||||
Refseq | NM_001040167 (mRNA) NP_001035257 (protein) |
NM_008494 (mRNA) NP_032520 (protein) |
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Location | Chr 7: 2.52 - 2.54 Mb | Chr 5: 140.86 - 140.87 Mb | ||||||||||||
Pubmed search | [1] | [2] |
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, also known as LFNG, is a human gene.[1]
This gene encodes a member of the glycosyltransferase superfamily. The encoded protein is a single-pass type II Golgi membrane protein that functions as a fucose-specific glycosyltransferase, adding an N-acetylglucosamine to the fucose residue of a group of signaling receptors involved in regulating cell fate decisions during development. Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Alternatively spliced transcript variants that encode different isoforms have been described, however, not all variants have been fully characterized.[1]
[edit] References
[edit] Further reading
- Johnston SH, Rauskolb C, Wilson R, et al. (1997). "A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway.". Development 124 (11): 2245–54. PMID 9187150.
- Egan S, Herbrick JA, Tsui LC, et al. (1999). "Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12.". Genomics 54 (3): 576–7. doi: . PMID 9878264.
- Moran JL, Johnston SH, Rauskolb C, et al. (1999). "Genomic structure, mapping, and expression analysis of the mammalian Lunatic, Manic, and Radical fringe genes.". Mamm. Genome 10 (6): 535–41. PMID 10341080.
- Moloney DJ, Panin VM, Johnston SH, et al. (2000). "Fringe is a glycosyltransferase that modifies Notch.". Nature 406 (6794): 369–75. doi: . PMID 10935626.
- Shimizu K, Chiba S, Saito T, et al. (2001). "Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation.". J. Biol. Chem. 276 (28): 25753–8. doi: . PMID 11346656.
- Cole SE, Levorse JM, Tilghman SM, Vogt TF (2002). "Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis.". Dev. Cell 3 (1): 75–84. PMID 12110169.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: . PMID 12477932.
- Shao L, Moloney DJ, Haltiwanger R (2003). "Fringe modifies O-fucose on mouse Notch1 at epidermal growth factor-like repeats within the ligand-binding site and the Abruptex region.". J. Biol. Chem. 278 (10): 7775–82. doi: . PMID 12486116.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi: . PMID 14702039.
- Oh JH, Yang JO, Hahn Y, et al. (2006). "Transcriptome analysis of human gastric cancer.". Mamm. Genome 16 (12): 942–54. doi: . PMID 16341674.
- Sparrow DB, Chapman G, Wouters MA, et al. (2006). "Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.". Am. J. Hum. Genet. 78 (1): 28–37. doi: . PMID 16385447.