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Literature summary extracted from

  • Sousa, S.B.; Jenkins, D.; Chanudet, E.; Tasseva, G.; Ishida, M.; Anderson, G.; Docker, J.; Ryten, M.; Sa, J.; Saraiva, J.M.; Barnicoat, A.; Scott, R.; Calder, A.; Wattanasirichaigoon, D.; Chrzanowska, K.; Simandlova, M.; Van Maldergem, L.; Stanier, P.; Beales, P.L.; Vance, J.E.; Moore, G.E.
    Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome (2014), Nat. Genet., 46, 70-76.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.8.29 gene PTDSS1 Homo sapiens
2.7.8.29 gene PTDSS1, expression analysis Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.8.29 L265P naturally gain-of-function mutation mutation of PSS1 Homo sapiens
2.7.8.29 P269L naturally gain-of-function mutation mutation of PSS1 Homo sapiens
2.7.8.29 P269S naturally gain-of-function mutation mutation of PSS1 Homo sapiens
2.7.8.29 Q353R naturally gain-of-function mutation mutation of PSS1, which resides in a separate cytosolic domain and has only s slight effect on enzyme activity Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
2.7.8.29 (3-sn-phosphatidyl)-L-serine end-product inhibition of isozyme PSS1; strong end-product inhibition of isozyme PSS1 Homo sapiens
2.7.8.29 additional information addition of phosphatidylcholine instead of phosphatidylserine does not reduce the rate of phosphatidylserine synthesis Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.7.8.29 endoplasmic reticulum
-
 Homo sapiens 5783
-
2.7.8.29 membrane integral membrane protein, membrane topology overview Homo sapiens 16020
-
2.7.8.29 mitochondrial membrane
-
 Homo sapiens 31966
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.8.29 L-1-phosphatidylcholine + L-serine Homo sapiens isozyme PSS1 L-1-phosphatidylserine + choline
-
 r
2.7.8.29 L-1-phosphatidylethanolamine + L-serine Homo sapiens isozyme PSS2 L-1-phosphatidylserine + ethanolamine
-
 r

Organism

EC Number Organism UniProt Comment Textmining
2.7.8.29 Homo sapiens P48651
-
-
2.7.8.29 Homo sapiens Q9BVG9
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.8.29 fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.8.29 L-1-phosphatidylcholine + L-serine isozyme PSS1 Homo sapiens L-1-phosphatidylserine + choline
-
 r
2.7.8.29 L-1-phosphatidylethanolamine + L-serine isozyme PSS2 Homo sapiens L-1-phosphatidylserine + ethanolamine
-
 r

Synonyms

EC Number Synonyms Comment Organism
2.7.8.29 phosphatidylserine synthase 1
-
 Homo sapiens
2.7.8.29 phosphatidylserine synthase 2
-
 Homo sapiens
2.7.8.29 PSS1
-
 Homo sapiens
2.7.8.29 PSS2
-
 Homo sapiens
2.7.8.29 PTDSS1
-
 Homo sapiens
2.7.8.29 PTDSS2
-
 Homo sapiens
2.7.8.29 serine-phosphatidylcholine phosphatidyltransferase
-
 Homo sapiens
2.7.8.29 serine-phosphatidylethanolamine phosphatidyltransferase
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.7.8.29 malfunction gain-of-function mutation of PTDSS1 encoding phosphatidylserine synthase 1, a causative heterozygous missense mutations in gene PTDSS1, causes Lenz-Majewski syndrome (LMS), a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. End-product inhibition of PSS1 by phosphatidylserine is markedly reduced in the mutant. The gain-of-function mutation is associated with regulatory dysfunction of PSS1. Phenotypes, overview Homo sapiens
2.7.8.29 metabolism link between phosphatidylserine synthesis and bone metabolism Homo sapiens
2.7.8.29 physiological function isozyme PSS1 is one of two enzymes involved in the production of phosphatidylserine Homo sapiens