LMPD Database

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LMP000186

Record overview

LMPD IDLMP000186
Gene ID51227
SpeciesHomo sapiens (Human)
Gene Namephosphatidylinositol glycan anchor biosynthesis, class P
Gene SymbolPIGP
SynonymsDCRC; DCRC-S; DSCR5; DSRC
Alternate namesphosphatidylinositol N-acetylglucosaminyltransferase subunit P; PIG-P; Down syndrome critical region gene 5; phosphatidylinositol glycan, class P; Down syndrome critical region protein 5; Down syndrome critical region protein C; phosphatidylinositol-glycan biosynthesis class P protein; phosphatidylinositol-n-acetylglucosaminyltranferase subunit
Chromosome21
Map Location21q22.2
EC Number2.4.1.198
SummaryThis gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for PIGP

Proteins

phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 1
Refseq ID:NP_710148
Protein GI:24497597
UniProt ID:P57054
mRNA ID:NM_153681
Length:158
RefSeq Status:REVIEWED
MVPRSTSLTLIVFLFHRLSKAPGKMVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSLGLTYWPQKYWAVALPVYLLIAIVIGYVLLFGI
NMMSTSPLDSIHTITDNYAKNQQQKKYQEEAIPALRDISISEVNQMFFLAAKELYTKN
 
phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2
Refseq ID:NP_710149
Protein GI:24497599
UniProt ID:P57054
mRNA ID:NM_153682
Length:134
RefSeq Status:REVIEWED
MVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSLGLTYWPQKYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAKNQQQ
KKYQEEAIPALRDISISEVNQMFFLAAKELYTKN