BRENDA - Enzyme Database show
show all sequences of 1.1.1.178

A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation

Yang, S.Y.; Dobkin, C.; He, X.Y.; Philipp, M.; Brown, W.T.; Gene 515, 380-384 (2013)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
mutant loses most or all catalytic functions, and the males with this mutation have a severe clinical phenotype. The mutation eliminates several hydrogen bonds and reduces the van der Waals interaction between HSD10 subunits. The resulting disruption of protein structure impairs some if not all of the catalytic and non-enzymatic functions of HSD10. Eight patients with the R130C mutation show an average 2-methyl-3-hydroxybutyryl-CoA dehydrogenase activity of only 6% of the normal control level
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
Q99714
-
-
Application (protein specific)
Application
Commentary
Organism
medicine
mutant loses most or all catalytic functions, and the males with this mutation have a severe clinical phenotype. The mutation eliminates several hydrogen bonds and reduces the van der Waals interaction between HSD10 subunits. The resulting disruption of protein structure impairs some if not all of the catalytic and non-enzymatic functions of HSD10. Eight patients with the R130C mutation show an average 2-methyl-3-hydroxybutyryl-CoA dehydrogenase activity of only 6% of the normal control level
Homo sapiens
Other publictions for EC 1.1.1.178
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)
725097
Yang
A 5-methylcytosine hotspot res ...
Homo sapiens
Gene
515
380-384
2013
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711851
Rauschenberger
A non-enzymatic function of 17 ...
Homo sapiens, Mus musculus, Xenopus laevis
EMBO Mol. Med.
2
51-62
2010
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697369
Garcia-Villoria
Study of patients and carriers ...
Homo sapiens
Clin. Biochem.
42
27-33
2009
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670477
Garcia-Villoria
2-Methyl-3-hydroxybutyryl-CoA ...
Homo sapiens
Pediatr. Res.
58
488-491
2005
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4
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286123
Zschocke
Progressive infantile neurodeg ...
Homo sapiens
Pediatr. Res.
48
852-855
2000
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286122
Luo
Short-chain 3-hydroxy-2-methyl ...
Rattus norvegicus
Arch. Biochem. Biophys.
321
214-220
1995
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286121
Gibson
A coupled assay detecting defe ...
Homo sapiens
Clin. Chim. Acta
205
127-135
1992
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286120
Conrad R.S.; Massey L.K.; Sokatch J.R.
D- and L-leucine metabolism an ...
Pseudomonas putida, Pseudomonas putida PpG2
J. Bacteriol.
4
103-111
1974
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