PIGS

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq]

Full Name

phosphatidylinositol glycan anchor biosynthesis, class S

Function

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.

Biological Process

Attachment of GPI anchor to proteinManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18):
An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features.

Topology

Cytoplasmic: 2-18
Helical: 19-39
Lumenal: 40-520
Helical: 521-541
Cytoplasmic: 542-555