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MGP003554

UniProt Annotations

Entry Information
Gene Nameglyceronephosphate O-acyltransferase
Protein EntryGNPAT_HUMAN
UniProt IDO15228
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15228-1; Sequence=Displayed; Name=2; IsoId=O15228-2; Sequence=VSP_056435; Note=No experimental confirmation available.;
Catalytic ActivityAcyl-CoA + glycerone phosphate = CoA + acylglycerone phosphate.
DiseaseRhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]: A disease characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. {ECO:0000269|PubMed:11152660, ECO:0000269|PubMed:21990100, ECO:0000269|PubMed:9536089}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate. {ECO:0000250}.
PathwayMembrane lipid metabolism; glycerophospholipid metabolism.
SimilarityBelongs to the GPAT/DAPAT family. {ECO:0000305}.
Subcellular LocationPeroxisome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Matrix side {ECO:0000250}. Note=Exclusively localized to the lumenal side of the peroxisomal membrane. {ECO:0000250}.
SubunitMay be part of a heterotrimeric complex composed of DAP- AT, ADAP-S and a modified form of DAP-AT.
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