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1.14.14.24: vitamin D 25-hydroxylase

This is an abbreviated version!
For detailed information about vitamin D 25-hydroxylase, go to the full flat file.

Word Map on EC 1.14.14.24

Reaction

calciol
+
O2
 +
[reduced NADPH-hemoprotein reductase]
=
calcidiol
 +
[oxidized NADPH-hemoprotein reductase]
 +
H2O

Synonyms

CYP2R1, CYP24A1, CYP2C11, CYP2D25, CYP2J3, CYP2R1, CYPIIJ3, Cytochrome P450 2C11, cytochrome P450 2J2, Cytochrome P450 2J3, cytochrome P450 2R1, EC 1.14.13.159, VDH, vitamin D 25-hydroxylase, vitamin D-25-hydroxylase, vitamin D2 25-hydroxylase, vitamin D3 25-hydroxylase, vitamin D3 hydroxylase

ECTree

     1 Oxidoreductases
         1.14 Acting on paired donors, with incorporation or reduction of molecular oxygen
             1.14.14 With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen into the other donor
                1.14.14.24 vitamin D 25-hydroxylase

Engineering

Engineering on EC 1.14.14.24 - vitamin D 25-hydroxylase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
A326G
about 90% loss of activity with all substrates tested
L99P
-
mutation identified in a patient with low circulating levels of 25-hydroxyvitamin D and classic symptoms of vitamin D deficiency. This individual is homozygous for a transition mutation in exon 2 of the CYP2R1 gene on chromosome 11p15.2, leading to the substitution of a proline for an evolutionarily conserved leucine and eliminating vitamin D 25-hydroxylase enzyme activity
V391L
mutation converts the enzyme from a catabolic 1alpha,25-dihydroxyvitamin D3-24-hydroxylase into an anabolic 1alpha-hydroxy-vitamin-D3-25-hydroxylase, which forms the hormone, 1alpha,25-dihydroxyvitamin D3. Mutant enzyme retains its basal ability to catabolize 1alpha,25-dihydroxyvitamin D3 via C24 hydroxylation, and can also produce calcitroic acid
V391L/A326G
mutant enzyme continues to form 1alpha,25-dihydroxyvitamin D3 from 1alpha-hydroxyvitamin D3, but this initial product is diverted via the C23 hydroxylation pathway into the 26,23-lactone. About 40-60% of wild-type activity
E216A
2- to 3fold increase in hydroxylase activity
E384R
2- to 3fold increase in hydroxylase activity
T70R
2- to 3fold increase in hydroxylase activity
T70R/V156L/E216M/E384R
21fold increase in hydroxylase activity
T70R/V156S/E216A/E384R
7.9fold increase in hydroxylase activity
V156S
2- to 3fold increase in hydroxylase activity
E216A
-
2- to 3fold increase in hydroxylase activity
-
E384R
-
2- to 3fold increase in hydroxylase activity
-
T70R
-
2- to 3fold increase in hydroxylase activity
-
T70R/V156L/E216M/E384R
-
21fold increase in hydroxylase activity
-
V156S
-
2- to 3fold increase in hydroxylase activity
-
A241G/L243V/F244L/P245R/R246F
-
mutation in substrate recognition site 3, to the equivalent residues in CYP2D6, an enzyme not active in 25-hydroxylation. The 25-hydroxylase activity of the mutant is completely lost whereas the activity toward tolterodine remains virtually unaffected
additional information