MGP Database

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MGP006165

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol glycan anchor biosynthesis, class O
Protein EntryPIGO_HUMAN
UniProt IDQ8TEQ8
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q8TEQ8-1; Sequence=Displayed; Name=2; IsoId=Q8TEQ8-2; Sequence=VSP_003944; Note=No experimental confirmation available.;
DiseaseHyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]: An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. {ECO:0000269|PubMed:22683086}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionEthanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond (By similarity). {ECO:0000250}.
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
Sequence CautionSequence=AAC07985.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH01030.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH13987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB84890.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAC03414.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAD38806.1; Type=Frameshift; Positions=46; Evidence={ECO:0000305};
SimilarityBelongs to the PIGG/PIGN/PIGO family. PIGO subfamily. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
SubunitForms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity). {ECO:0000250}.
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