Literature summary for 2.7.8.29 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.

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Cloned(Commentary)

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

Protein Variants

Protein Variants	Comment	Organism
L265P	naturally gain-of-function mutation mutation of PSS1	Homo sapiens
P269L	naturally gain-of-function mutation mutation of PSS1	Homo sapiens
P269S	naturally gain-of-function mutation mutation of PSS1	Homo sapiens
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

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

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P48651	-	-
Homo sapiens	Q9BVG9	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

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

General Information

General Information	Comment	Organism
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
metabolism	link between phosphatidylserine synthesis and bone metabolism	Homo sapiens
physiological function	isozyme PSS1 is one of two enzymes involved in the production of phosphatidylserine	Homo sapiens

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Release 2023.1 (January 2023)