LMPD Database

LMP001689

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol glycan anchor biosynthesis, class A
Protein EntryPIGA_HUMAN
UniProt IDP37287
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P37287-1; Sequence=Displayed; Name=2; IsoId=P37287-2; Sequence=VSP_001802; Name=3; IsoId=P37287-3; Sequence=VSP_043366, VSP_043367; Note=No experimental confirmation available.;
Catalytic ActivityUDP-N-acetyl-D-glucosamine + 1-phosphatidyl- 1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol.
DiseaseMultiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM
DiseaseParoxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM
FunctionNecessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
SimilarityBelongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
Subcellular LocationEndoplasmic reticulum membrane; Single-pass membrane protein.
SubunitAssociates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts directly with PIGY.
Web ResourceName=Functional Glycomics Gateway - GTase; Note=Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_555";