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PIGV Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. Defects in PIGV are the cause of hyperphosphatasia with mental retardation type 1 (HPMRS1). It is a syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. Belongs to the PIGV family. Note: This description may include information from UniProtKB.
Protein type: EC 2.4.1.-; Endoplasmic reticulum; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; Membrane protein, integral; Membrane protein, multi-pass; Transferase
Chromosomal Location of Human Ortholog: 1p36.11
Cellular Component: endoplasmic reticulum membrane; integral component of membrane; mannosyltransferase complex
Molecular Function: dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity; glycolipid mannosyltransferase activity; mannosyltransferase activity
Biological Process: GPI anchor biosynthetic process; preassembly of GPI anchor in ER membrane
Disease: Hyperphosphatasia With Mental Retardation Syndrome 1
Reference #:  Q9NUD9 (UniProtKB)
Alt. Names/Synonyms: FLJ20477; GPI mannosyltransferase 2; GPI mannosyltransferase II; GPI-MT-II; phosphatidylinositol glycan anchor biosynthesis, class V; phosphatidylinositol glycan, class V; Phosphatidylinositol-glycan biosynthesis class V protein; PIG-V; PIGV
Gene Symbols: PIGV
Molecular weight: 55,713 Da
Basal Isoelectric point: 8.2  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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