LMPD Database

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LMP012363

UniProt Annotations

Entry Information
Gene Namepost-GPI attachment to proteins 3
Protein Entry
UniProt IDQ96FM1
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96FM1-1; Sequence=Displayed; Name=2; IsoId=Q96FM1-2; Sequence=VSP_034158; Note=No experimental confirmation available.; Name=3; IsoId=Q96FM1-3; Sequence=VSP_057229; Note=No experimental confirmation available;
DiseaseHyperphosphatasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]: An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable)
MiscellaneousWhen transfected in S.cerevisiae, it can complement the absence of yeast of PER1 protein, suggesting a conserved role in lipid remodeling steps of GPI-anchor maturation.
Sequence CautionSequence=BAC55580.1; Type=Frameshift; Positions=164, 174, 176, 197; Evidence= ;
SimilarityBelongs to the PGAP3 family
Subcellular LocationGolgi apparatus membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Note=Mainly localizes to Golgi apparatus
Tissue SpecificityUbiquitously expressed, with highest levels in thyroid and placenta