BRENDA - Enzyme Database show
show all sequences of 2.7.8.29

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1

Whyte, M.P.; Blythe, A.; McAlister, W.H.; Nenninger, A.R.; Bijanki, V.N.; Mumm, S.; J. Bone Miner. Res. 30, 606-614 (2015)

Data extracted from this reference:

Cloned(Commentary)
Commentary
Organism
gene PTDSS1
Homo sapiens
Engineering
Amino acid exchange
Commentary
Organism
W277R
naturally occuring mutation in gene PTDSS1 causing Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria, the patient shows hyperostosis and osteosclerosis resulting from accelerated bone formation, and increased PTDS biosynthesis caused by the PTDSS1 mutation leading to hyperphosphoserinuria, phenotype
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
P48651
-
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
bone
-
Homo sapiens
-
Cloned(Commentary) (protein specific)
Commentary
Organism
gene PTDSS1
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
W277R
naturally occuring mutation in gene PTDSS1 causing Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria, the patient shows hyperostosis and osteosclerosis resulting from accelerated bone formation, and increased PTDS biosynthesis caused by the PTDSS1 mutation leading to hyperphosphoserinuria, phenotype
Homo sapiens
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
bone
-
Homo sapiens
-
General Information
General Information
Commentary
Organism
malfunction
mutation W277R of PTDSS1 encoding phosphatidylserine synthase 1 causes Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria. Lenz-Majewski hyperostotic dwarfism (LMHD) is an ultra-rare Mendelian craniotubular dysostosis that causes skeletal dysmorphism and widely distributed osteosclerosis. In vivo, PTDSS1 defects cause LMHD and support enhanced biosynthesis of PTDS in the pathogenesis of LMHD, while in vitro, these PTDSS1 mutations are gain-of-function and increase PTDS production. Phenotype, overview
Homo sapiens
physiological function
isozyme PSS1 promotes the biosynthesis of phosphatidylserine (PTDS), which is a functional constituent of lipid bilayers. PTDS binds calcium within matrix vesicles to engender hydroxyapatite crystal formation, and may enhance mesenchymal stem cell differentiation leading to osteogenesis
Homo sapiens
General Information (protein specific)
General Information
Commentary
Organism
malfunction
mutation W277R of PTDSS1 encoding phosphatidylserine synthase 1 causes Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria. Lenz-Majewski hyperostotic dwarfism (LMHD) is an ultra-rare Mendelian craniotubular dysostosis that causes skeletal dysmorphism and widely distributed osteosclerosis. In vivo, PTDSS1 defects cause LMHD and support enhanced biosynthesis of PTDS in the pathogenesis of LMHD, while in vitro, these PTDSS1 mutations are gain-of-function and increase PTDS production. Phenotype, overview
Homo sapiens
physiological function
isozyme PSS1 promotes the biosynthesis of phosphatidylserine (PTDS), which is a functional constituent of lipid bilayers. PTDS binds calcium within matrix vesicles to engender hydroxyapatite crystal formation, and may enhance mesenchymal stem cell differentiation leading to osteogenesis
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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741056
Sousa
Gain-of-function mutations in ...
Homo sapiens
Nat. Genet.
46
70-76
2014
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722906
Kimura
Phosphatidylserine synthase 2: ...
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J. Lipid Res.
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2013
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Yu
Resistance to UV-induced apopt ...
Cricetulus griseus
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661228
Grandmaison
Externalization of phosphatidy ...
Cricetulus griseus
Biochim. Biophys. Acta
1636
1-11
2004
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1
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717768
Kuge
Purification and characterizat ...
Cricetulus griseus
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278
42692-42698
2003
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717766
Bergo
Defining the importance of pho ...
Mus musculus
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47701-47708
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Cricetulus griseus, Rattus norvegicus
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34534-34540
2000
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Mus musculus
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1999
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Control of phosphatidylserine ...
Cricetulus griseus
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274
23844-23849
1999
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Cricetulus griseus
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Cloning of a Chinese hamster o ...
Cricetulus griseus
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272
19133-19139
1997
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