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show all sequences of 1.1.1.102

A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy

Krebs, S.; Medugorac, I.; Roether, S.; Straesser, K.; Foerster, M.; Proc. Natl. Acad. Sci. USA 104, 6746-6751 (2007)

Data extracted from this reference:

Application
Application
Commentary
Organism
food industry
naturally occuring missense mutation A175T is linked to animals with bovine spinal muscular atrophy. Protein exhibits no detectable in vitro catalytic activity, but the mutated gene complements the growth defect of a homologous yeast knock-out strain as well as the healthy variant
Bos taurus
Engineering
Amino acid exchange
Commentary
Organism
A175T
site-directed mutagenesis, naturally occuring missense mutation linked to animals with bovine spinal muscular atrophy. Protein exhibits no detectable in vitro catalytic activity, but the mutated gene complements the growth defect of a homologous yeast knock-out strain as well as the healthy variant
Bos taurus
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Bos taurus
Q2KIJ5
isoform Fvt1
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
Application (protein specific)
Application
Commentary
Organism
food industry
naturally occuring missense mutation A175T is linked to animals with bovine spinal muscular atrophy. Protein exhibits no detectable in vitro catalytic activity, but the mutated gene complements the growth defect of a homologous yeast knock-out strain as well as the healthy variant
Bos taurus
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
A175T
site-directed mutagenesis, naturally occuring missense mutation linked to animals with bovine spinal muscular atrophy. Protein exhibits no detectable in vitro catalytic activity, but the mutated gene complements the growth defect of a homologous yeast knock-out strain as well as the healthy variant
Bos taurus
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
Other publictions for EC 1.1.1.102
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)
721947
Timmins-Schiffman
Characterization of genes invo ...
Crassostrea gigas
BMC Res. Notes
5
502
2012
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721891
Kim
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Effects of expression of lcb1/ ...
Saccharomyces cerevisiae, Saccharomyces cerevisiae KCCM 50515
Biotechnol. Bioprocess Eng.
16
1-6
2011
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723408
Chao
Sphingolipids in the root play ...
Arabidopsis thaliana
Plant Cell
23
1061-1081
2011
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699413
Gupta
Tsc10p and FVT1: Topologically ...
Homo sapiens, Saccharomyces cerevisiae
J. Lipid Res.
50
1630-1640
2009
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2
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2
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689780
Krebs
A missense mutation in the 3-k ...
Bos taurus
Proc. Natl. Acad. Sci. USA
104
6746-6751
2007
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667831
Fornarotto
Sphingolipid biosynthesis in p ...
Aspergillus fumigatus, Candida albicans, Saccharomyces cerevisiae
Biochim. Biophys. Acta
1761
52-63
2006
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656256
Kihara
FVT-1 is a mammalian 3-ketodih ...
Homo sapiens, Mus musculus
J. Biol. Chem.
279
49243-49250
2004
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285697
Beeler
The Saccharomyces cerevisiae T ...
Saccharomyces cerevisiae
J. Biol. Chem.
273
30688-30694
1998
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285698
Mandon
Subcellular localization and m ...
Mus musculus
J. Biol. Chem.
267
11144-11148
1992
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285699
Stoffel
Stereospecificity of the NADPH ...
Bos taurus, Rattus norvegicus
Hoppe-Seyler's Z. Physiol. Chem.
349
1637-1644
1968
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285700
Stoffel
Biosynthesis of dihydrosphingo ...
Pichia ciferrii, Rattus norvegicus
Hoppe-Seyler's Z. Physiol. Chem.
349
664-670
1968
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