BRENDA - Enzyme Database show
show all sequences of 2.7.8.29

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

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.; Nat. Genet. 46, 70-76 (2014)

Data extracted from this reference:

Cloned(Commentary)
Commentary
Organism
gene PTDSS1; gene PTDSS1, expression analysis
Homo sapiens
Engineering
Amino acid exchange
Commentary
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
Commentary
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
Commentary
Organism
GeneOntology No.
Textmining
endoplasmic reticulum
;
Homo sapiens
5783
-
membrane
integral membrane protein, membrane topology overview; integral membrane protein, membrane topology overview
Homo sapiens
16020
-
mitochondrial membrane
;
Homo sapiens
31966
-
Natural Substrates/ Products (Substrates)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
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
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
P48651
-
-
Homo sapiens
Q9BVG9
-
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
fibroblast
;
Homo sapiens
-
Substrates and Products (Substrate)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
L-1-phosphatidylcholine + L-serine
isozyme PSS1
741056
Homo sapiens
L-1-phosphatidylserine + choline
-
-
-
r
L-1-phosphatidylethanolamine + L-serine
isozyme PSS2
741056
Homo sapiens
L-1-phosphatidylserine + ethanolamine
-
-
-
r
Cloned(Commentary) (protein specific)
Commentary
Organism
gene PTDSS1
Homo sapiens
gene PTDSS1, expression analysis
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
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 (protein specific)
Inhibitors
Commentary
Organism
Structure
(3-sn-phosphatidyl)-L-serine
end-product inhibition of isozyme PSS1
Homo sapiens
(3-sn-phosphatidyl)-L-serine
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 (protein specific)
Localization
Commentary
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) (protein specific)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
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
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
fibroblast
-
Homo sapiens
-
Substrates and Products (Substrate) (protein specific)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
L-1-phosphatidylcholine + L-serine
isozyme PSS1
741056
Homo sapiens
L-1-phosphatidylserine + choline
-
-
-
r
L-1-phosphatidylethanolamine + L-serine
isozyme PSS2
741056
Homo sapiens
L-1-phosphatidylserine + ethanolamine
-
-
-
r
General Information
General Information
Commentary
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; 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
General Information (protein specific)
General Information
Commentary
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
Other publictions for EC 2.7.8.29
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Temperature Optimum [°C]
Temperature Range [°C]
Temperature Stability [°C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [°C] (protein specific)
Temperature Range [°C] (protein specific)
Temperature Stability [°C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
740791
Whyte
Lenz-Majewski hyperostotic dwa ...
Homo sapiens
J. Bone Miner. Res.
30
606-614
2015
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2
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741056
Sousa
Gain-of-function mutations in ...
Homo sapiens
Nat. Genet.
46
70-76
2014
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4
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722906
Kimura
Phosphatidylserine synthase 2: ...
Mus musculus
J. Lipid Res.
54
214-222
2013
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4
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717210
Tomohiro
Purification and characterizat ...
Homo sapiens
Biochem. J.
418
421-429
2009
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1
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693046
Arikketh
Defining the importance of pho ...
Mus musculus
J. Biol. Chem.
283
12888-12897
2008
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1
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675553
Wen
Inhibition of phosphatidylseri ...
Rattus norvegicus
J. Neurosci. Res.
85
1568-1578
2007
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1
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693711
Guo
Neuronal specific increase of ...
Cricetulus griseus, Homo sapiens, Mus musculus
J. Mol. Neurosci.
33
67-73
2007
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3
3
3
3
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660974
Yu
Resistance to UV-induced apopt ...
Cricetulus griseus
Biochem. J.
381
609-618
2004
1
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1
1
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661228
Grandmaison
Externalization of phosphatidy ...
Cricetulus griseus
Biochim. Biophys. Acta
1636
1-11
2004
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1
1
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717768
Kuge
Purification and characterizat ...
Cricetulus griseus
J. Biol. Chem.
278
42692-42698
2003
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1
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2
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717766
Bergo
Defining the importance of pho ...
Mus musculus
J. Biol. Chem.
277
47701-47708
2002
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717762
Stone
Phosphatidylserine synthase-1 ...
Cricetulus griseus, Rattus norvegicus
J. Biol. Chem.
275
34534-34540
2000
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4
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717208
Stone
Cloning and expression of muri ...
Mus musculus
Biochem. J.
342
57-64
1999
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717761
Kuge
Control of phosphatidylserine ...
Cricetulus griseus
J. Biol. Chem.
274
23844-23849
1999
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1
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1
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717759
Saito
Genetic evidence that phosphat ...
Cricetulus griseus
J. Biol. Chem.
273
17199-17205
1998
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717758
Kuge
Cloning of a Chinese hamster o ...
Cricetulus griseus
J. Biol. Chem.
272
19133-19139
1997
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