LMPD Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
LMP001664

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol glycan anchor biosynthesis, class T
Protein EntryPIGT_HUMAN
UniProt IDQ969N2
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q969N2-1; Sequence=Displayed; Name=2; IsoId=Q969N2-2; Sequence=VSP_009537; Name=3; IsoId=Q969N2-3; Sequence=VSP_009536, VSP_009539, VSP_009540; Note=No experimental confirmation available.; Name=4; IsoId=Q969N2-4; Sequence=VSP_009538; Name=5; IsoId=Q969N2-5; Sequence=VSP_043167; Note=No experimental confirmation available.; Name=6; IsoId=Q969N2-6; Sequence=VSP_009540; Note=No experimental confirmation available.;
DiseaseMultiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM
DiseaseParoxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM
FunctionComponent of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
PtmThe disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
Sequence CautionSequence=AAD27715.1; Type=Frameshift; Positions=5, 27; Evidence= ; Sequence=AAQ88951.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=CAB57341.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
SimilarityBelongs to the PIGT family.
Subcellular LocationEndoplasmic reticulum membrane ; Single-pass type I membrane protein .
SubunitForms a complex with PIGK/GPI8, PIGS, PIGU and GPAA1/GAA1. Has a critical role in maintaining the complex by stabilizing the expression of GPAA1 and GPI8 and linking them to PIGS.