MGP Database

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MGP004010

UniProt Annotations

Entry Information
Gene Namephosphatidylserine synthase 1
Protein EntryPTSS1_HUMAN
UniProt IDP48651
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P48651-1; Sequence=Displayed; Name=2; IsoId=P48651-2; Sequence=VSP_055980; Note=No experimental confirmation available.; Name=3; IsoId=P48651-3; Sequence=VSP_057421, VSP_057422; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=67 uM for serine (in the presence of 2 mM PC) {ECO:0000269|PubMed:19014349}; KM=24 uM for serine (in the presence of 1 mM PE) {ECO:0000269|PubMed:19014349}; pH dependence: Optimum pH for both PC and PE is between 7.0 and 7.5. {ECO:0000269|PubMed:19014349};
Catalytic ActivityL-1-phosphatidylethanolamine + L-serine = L-1- phosphatidylserine + ethanolamine.
DiseaseLenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050]: A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. {ECO:0000269|PubMed:24241535}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationRequires calcium ions. Activated by exogenous phosphatidylethanolamine. {ECO:0000269|PubMed:19014349, ECO:0000269|PubMed:9539713}.
FunctionCatalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine.
PathwayPhospholipid metabolism; phosphatidylserine biosynthesis.
SimilarityBelongs to the phosphatidyl serine synthase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Highly enriched in the mitochondria-associated membrane (MAM). {ECO:0000250}.
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