UniProt Protein Function: | 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.Protein type: EC 2.4.1.-; Membrane protein, multi-pass; Glycan Metabolism - glycosylphosphatidylinositol (GPI)-anchor biosynthesis; Membrane protein, integral; Transferase; Endoplasmic reticulumChromosomal Location of Human Ortholog: 1p36.11Cellular Component: endoplasmic reticulum membrane; mannosyltransferase complexMolecular Function: glycolipid mannosyltransferase activity; mannosyltransferase activityBiological Process: GPI anchor biosynthetic process; preassembly of GPI anchor in ER membraneDisease: Hyperphosphatasia With Mental Retardation Syndrome 1 |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] |
UniProt Code: | Q9NUD9 |
NCBI GenInfo Identifier: | 74752975 |
NCBI Gene ID: | 55650 |
NCBI Accession: | Q9NUD9.1 |
UniProt Secondary Accession: | Q9NUD9,Q5JYG7, Q5JYG8, Q5JYG9, Q9NX26, D3DPL2 |
UniProt Related Accession: | Q9NUD9 |
Molecular Weight: | 55,713 Da |
NCBI Full Name: | GPI mannosyltransferase 2 |
NCBI Synonym Full Names: | phosphatidylinositol glycan anchor biosynthesis class V |
NCBI Official Symbol: | PIGVÂ Â |
NCBI Official Synonym Symbols: | PIG-V; HPMRS1; GPI-MT-IIÂ Â |
NCBI Protein Information: | GPI mannosyltransferase 2 |
UniProt Protein Name: | GPI mannosyltransferase 2 |
UniProt Synonym Protein Names: | GPI mannosyltransferase II; GPI-MT-II; Phosphatidylinositol-glycan biosynthesis class V protein; PIG-V |
Protein Family: | |
UniProt Gene Name: | PIGVÂ Â |
UniProt Entry Name: | PIGV_HUMAN |