MGP Database

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MGP006938

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol glycan anchor biosynthesis, class W
Protein EntryPIGW_HUMAN
UniProt IDQ7Z7B1
SpeciesHuman
Comments
Comment typeDescription
DiseaseHyperphosphatasia with mental retardation syndrome 5 (HPMRS5) [MIM:616025]: An autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. {ECO:0000269|PubMed:24367057}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRequired for the transport of GPI-anchored proteins to the plasma membrane (PubMed:24367057). Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor. Acetylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity). {ECO:0000250|UniProtKB:Q7TSN4, ECO:0000269|PubMed:24367057}.
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. {ECO:0000250|UniProtKB:Q7TSN4}.
SimilarityBelongs to the PIGW family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q7TSN4}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q7TSN4}.
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