GPAA1

GPAA1 gene was frequently amplified (73%, 11/15) using quantitative microsatellite analysis.

Full Name

Glycosylphosphatidylinositol Anchor Attachment 1

Function

Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate.

Biological Process

Attachment of GPI anchor to protein Source: GO_Central
Protein-containing complex assembly Source: UniProtKB
Protein retention in ER lumen Source: UniProtKB
Proteolysis Source: GOC

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15):
An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria.

Topology

Cytoplasmic: 2-24
Helical: 25-45
Lumenal: 46-368
Helical: 369-389
Cytoplasmic: 390-427
Helical: 428-448
Lumenal: 449-458
Helical: 459-479
Cytoplasmic: 480-495
Helical: 496-516
Lumenal: 517-543
Helical: 544-564
Cytoplasmic: 565-599
Helical: 600-620
Lumenal: 621