Phosphatidylinositol Glycan L (PIGL)

N-Acetylglucosaminylphosphatidylinositol Deacetylase; Phosphatidylinositol Glycan Anchor Biosynthesis,Class L; N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase

SPN	P345
HGNC	8966
MGI	2681271
RGD	620437
UniProt	Q9Y2B2

Glycosylphosphatidylinositol (GPI) is used as a membrane anchor by many eukaryotic cell surface proteins. The first step in GPI biosynthesis involves the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI) . The second step is de-N-acetylation of GlcNAc-PI.

PIGL encodes a deduced 252-amino acid protein that shares 77% identity with the rat protein. Using transfection into mammalian PIGL-deficient cells, Watanabe et al. (1999) demonstrated that S. cerevisiae Gpi12 is the ortholog of human and rat PIGL. Disruption of Gpi12 in yeast resulted in a lethal phenotype. Using purified, recombinant rat PIGL, Watanabe et al. (1999) demonstrated that PIGL has GlcNAc-PI de-N-acetylase activity in vitro, which is enhanced by metal ions.

Reference

"Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis."
Biochem. J. 339:185-192(1999) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome."
Am. J. Hum. Genet. 90:685-688(2012) [PubMed] [Europe PMC] [Abstract]