BRENDA - Enzyme Database show

Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein

Alperin, E.S.; Shapiro, L.J.; J. Biol. Chem. 272, 20756-20763 (1997)

Data extracted from this reference:

Application
EC Number
Application
Commentary
Organism
3.1.6.2
medicine
deficiency in X-linked placental insufficiency and X-linked ichthyosis; point mutations in 3 patients
Homo sapiens
Cloned(Commentary)
EC Number
Commentary
Organism
3.1.6.2
expression in mouse A9 cells
Homo sapiens
Engineering
EC Number
Amino acid exchange
Commentary
Organism
3.1.6.2
C446Y
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
H444R
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
R419S
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
S341L
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
W372P
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
W372R
patient with X-linked ichthyosis
Homo sapiens
Molecular Weight [Da]
EC Number
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
3.1.6.2
62000
-
amino acid analysis
Homo sapiens
Natural Substrates/ Products (Substrates)
EC Number
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
3.1.6.2
steroid sulfates + H2O
Homo sapiens
also acts on some related steryl sulfates, phenol sulfates, steroid arylsulfates and steroid alkyl sulfates catalyzed at the same site
steroid + sulfate
-
-
?
Organism
EC Number
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
3.1.6.2
Homo sapiens
-
-
-
Posttranslational Modification
EC Number
Posttranslational Modification
Commentary
Organism
3.1.6.2
glycoprotein
4 sites for possible glycosylation, only 2 sites used
Homo sapiens
Substrates and Products (Substrate)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
3.1.6.2
estrone sulfate + H2O
-
135622
Homo sapiens
estrone + sulfate
-
-
-
?
3.1.6.2
steroid sulfates + H2O
also acts on some related steryl sulfates, phenol sulfates, steroid arylsulfates and steroid alkyl sulfates catalyzed at the same site
135622
Homo sapiens
steroid + sulfate
-
-
-
?
Application (protein specific)
EC Number
Application
Commentary
Organism
3.1.6.2
medicine
deficiency in X-linked placental insufficiency and X-linked ichthyosis; point mutations in 3 patients
Homo sapiens
Cloned(Commentary) (protein specific)
EC Number
Commentary
Organism
3.1.6.2
expression in mouse A9 cells
Homo sapiens
Engineering (protein specific)
EC Number
Amino acid exchange
Commentary
Organism
3.1.6.2
C446Y
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
H444R
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
R419S
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
S341L
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
W372P
patient with X-linked ichthyosis
Homo sapiens
3.1.6.2
W372R
patient with X-linked ichthyosis
Homo sapiens
Molecular Weight [Da] (protein specific)
EC Number
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
3.1.6.2
62000
-
amino acid analysis
Homo sapiens
Natural Substrates/ Products (Substrates) (protein specific)
EC Number
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
3.1.6.2
steroid sulfates + H2O
Homo sapiens
also acts on some related steryl sulfates, phenol sulfates, steroid arylsulfates and steroid alkyl sulfates catalyzed at the same site
steroid + sulfate
-
-
?
Posttranslational Modification (protein specific)
EC Number
Posttranslational Modification
Commentary
Organism
3.1.6.2
glycoprotein
4 sites for possible glycosylation, only 2 sites used
Homo sapiens
Substrates and Products (Substrate) (protein specific)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
3.1.6.2
estrone sulfate + H2O
-
135622
Homo sapiens
estrone + sulfate
-
-
-
?
3.1.6.2
steroid sulfates + H2O
also acts on some related steryl sulfates, phenol sulfates, steroid arylsulfates and steroid alkyl sulfates catalyzed at the same site
135622
Homo sapiens
steroid + sulfate
-
-
-
?