PhosphatidylInositol Glycan anchor biosynthesis class N homolog 1
Synonyms
CELE_Y54E10BR.1
M01B12.e
Biotype
protein coding gene
Automated Description
Predicted to enable mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Located in endoplasmic reticulum membrane. Is expressed in body wall musculature; hypodermis; intestine; and pharynx. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 1. Orthologous to human PIGN (phosphatidylinositol glycan anchor biosynthesis class N).
WB Description
Y54E10BR.1 is an ortholog of human PIGN (phosphatidylinositol glycan anchor biosynthesis class N); Y54E10BR.1 is involved in embryo development and nematode larval development; PIGN has a large loop between the first and second transmembrane domains that contains three conserved motifs present in phosphodiesterases, nucleotide pyrophosphatases, and sulfatases, each of which is believed to be important for the PIGN catalytic activity in the EtNP transferase reaction; the mutations strongly (H263A in motif 3) or moderately (H218A in motif 2) affect the GPI synthesis activity of PIGN as determined by the surface expression of CD59 (GPI-AP) in PIGN-knockout HEK293 cells; PIGN-1/PIGN has a non-canonical function in protein quality control preventing protein aggregation within the ER in C. elegans and in mammalian cells; although PIGN was originally identified as an enzyme involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis, the function of PIGN-1/PIGN in protein quality control is independent of its enzymatic activities.