LMPD Database

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LMP004710

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol glycan anchor biosynthesis, class V
Protein EntryPIGV_HUMAN
UniProt IDQ9NUD9
SpeciesHuman
Comments
Comment typeDescription
DiseaseHyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM
FunctionAlpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. {ECO
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
PtmNot N-glycosylated.
Sequence CautionSequence=CAI21625.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=CAI21626.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=CAI21627.1; Type=Erroneous gene model prediction; Evidence= ;
SimilarityBelongs to the PIGV family.
Subcellular LocationEndoplasmic reticulum membrane ; Multi-pass membrane protein .