LMPD Database

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LMP001314

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
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).
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
Sequence CautionSequence=AAC07985.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=AAH01030.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAH13987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAB84890.1; Type=Frameshift; Positions=Several; Evidence= ; Sequence=BAC03414.1; Type=Frameshift; Positions=Several; Evidence= ; Sequence=CAD38806.1; Type=Frameshift; Positions=46; Evidence= ;
SimilarityBelongs to the PIGG/PIGN/PIGO family. PIGO subfamily.
Subcellular LocationEndoplasmic reticulum membrane {ECO
SubunitForms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity).