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Information on EC 1.3.1.21 - 7-dehydrocholesterol reductase and Organism(s) Mus musculus and UniProt Accession O88455
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1.3.1.21 7-dehydrocholesterol reductaseIUBMB Comments
The enzyme is part of the cholesterol biosynthesis pathway.
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Word Map
- 1.3.1.21
-
smith-lemli-opitz
- malformation
- cyp2r1
- anomaly
-
25-hydroxyvitamin
-
syndactyly
-
d-related
- desmosterol
- 8-dehydrocholesterol
- dhcr24
-
genitalia
- oxysterols
- holoprosencephaly
- rsh
- ecdysteroids
-
cholesterogenic
- medicine
- diagnostics
-
25-hydroxylase
- trazodone
- aripiprazole
- ebp
- hmgcs1
The taxonomic range for the selected organisms is: Mus musculus
The enzyme appears in selected viruses and cellular organisms
The enzyme appears in selected viruses and cellular organisms
Synonyms
dhcr7, 7-dehydrocholesterol reductase, neverland, daf-36, sterol delta7-reductase, 7-dhc reductase, 3beta-hydroxysterol delta7-reductase, 7-dhcr, 3beta-hydroxysterol-delta7-reductase, 7-dehydrocholesterol delta7-reductase, 
more
topSYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
7-DHC reductase
-
-
-
-
Dwarf5 protein
-
-
-
-
reductase, 7-dehydrocholesterol
-
-
-
-
Sterol delta-7-reductase
-
-
-
-
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
redox reaction
-
-
-
-
oxidation
-
-
-
-
reduction
-
-
-
-
PATHWAY SOURCE
PATHWAYS
BRENDA
-
-, -, -, -, -, -, -, -
SYSTEMATIC NAME
IUBMB Comments
cholesterol:NADP+ DELTA7-oxidoreductase
The enzyme is part of the cholesterol biosynthesis pathway.
CAS REGISTRY NUMBER
COMMENTARY
9080-21-1
-
SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
enzyme catalyzes the terminal step in cholesterol biosynthesis by reducing 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
i.e. 7-dehydrocholesterol
-
-
?
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
-
i.e. 7-dehydrocholesterol
-
-
?
additional information
?
-
enzyme is regulated through tissue-specific transcription and differential alternative splicing
-
-
?
additional information
?
-
-
enzyme is regulated through tissue-specific transcription and differential alternative splicing
-
-
?
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
cholesta-5,7-dien-3beta-ol + NADPH
cholesterol + NADP+
enzyme catalyzes the terminal step in cholesterol biosynthesis by reducing 7-dehydrocholesterol
-
-
?
additional information
?
-
enzyme is regulated through tissue-specific transcription and differential alternative splicing
-
-
?
additional information
?
-
-
enzyme is regulated through tissue-specific transcription and differential alternative splicing
-
-
?
COFACTOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
pH OPTIMUM
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
3 isozymes of enzyme Dhcr7 through alternative splicing of gene Dhcr7
SwissProt
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SOURCE
-
mutation apoB38.9 in apolipoprotein B results in a hypobetalipoproteinemia-like phenotype and leads to downregulation of enzyme and several other cholesterogenic enzymes
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
physiological function
additional information
-
dehydrosterol reductase, DHCR7, deficiency is associated with Smith-Lemli-Opitz syndrome, phenotype, overview. In DHCR7 deficient mice, dehydrodesmosterol, a uniquely major sterol component in hair, is the dominant hair DELTA7 sterol
physiological function
-
construction of an adeno-associated virus vector containing the DHCR7 gene and infusion of this vector into mice deficient for the enzyme leads to identification of the introduced DHCR7 gene in liver, expression of mRNA production of a functional enzyme. Evidence of functionality comes from the ability to partially normalize the serum ratio of 7-dehydrocholesterol/cholesterol in treated animals, apparently by increasing cholesterol production with concomitant decrease in the 7-dehydrocholesterol precursor. By five weeks after treatment the mean ratio for 7 animals has fallen to 0.05 while the ratio for untreated littermate controls has risen to 0.14
physiological function
-
microsomes from the livers of mice in which hepatic cytochrome P450 reductase expression is extinguished during maturation contain negligible levels of NADPH-cytochrome P450 reductase but have 2.5fold greater DHCR7 activity than microsomes from wild-type mice. DHCR7 protein levels are elevated twofold in NADPH-cytochrome P450 reductase-null microsomes. Addition of NADPH-cytochrome P450 reductase to these microsomes provides no stimulation of DHCR7 activity
physiological function
-
quantitative proteomics analysis of Smith-Lemli-Opitz syndrome and lathosterolosis mouse brain tissue shows that multiple biological pathways are affected affected in Dhcr7-deficient and lathosterol 5-desaturase-deficient E18.5 embryos. These include alterations in mevalonate metabolism, apoptosis, glycolysis, oxidative stress, protein biosynthesis, intracellular trafficking, and cytoskeleton. Deficiency leads to increased expression of isoprenoid and cholesterol synthetic enzymes, possibly due to the altered posttranslational modification of Rab7, a small GTPase
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable).
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). DHCR7_MOUSE
471
6
53919
Swiss-Prot
Mitochondrion (Reliability: 5)
SUBUNIT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
T93M
-
naturally occuring mutation involved in Dhcr7 deficiency and the Smith-Lemli-Opitz syndrome, overview
additional information
-
ectopic and increased cholesterol formation achieved by overexpression of mural Dhcr7 in Xenopus laevis leads to an expansion of the embryonic brain, at least in part at the expense of eye formation
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 7F5
-
APPLICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
medicine
in a time-pregnant mouse model where wild-type and Dhcr7+/- embryos are maternally exposed to aripiprazole or vehicle, aripiprazole and its metabolites are transported across the placenta and reach the brain of offspring. Maternal aripiprazole exposure leads to decreased viability of embryos and increased 7-DHC levels, regardless of maternal or offspring Dhcr7 genotype. Dhcr7+/- pups are more vulnerable to maternal aripiprazole exposure than their wild-type littermates, and maternal Dhcr7+/- genotype also exacerbates offspring response to aripiprazole treatment. Both 7-DHC levels and 7-DHC/cholesterol ratio is the highest in Dhcr7+/- pups from Dhcr7+/- mothers exposed to aripiprazole
medicine
medicine
-
mutation apoB38.9 in apolipoprotein B results in a hypobetalipoproteinemia-like phenotype and leads to downregulation of enzyme and several other cholesterogenic enzymes
medicine
-
a 7-dehydrosterol reductase deficiency is known as Smith-Lemli-Opitz syndrome
medicine
-
although cholesterol synthesis is impaired in both Dhcr7-deficient and lathosterol 5-desaturase-deficient embryonic brain tissues, the synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology
medicine
-
construction of an adeno-associated virus vector containing the DHCR7 gene and infusion of this vector into mice deficient for the enzyme leads to identification of the introduced DHCR7 gene in liver, expression of mRNA production of a functional enzyme. Evidence of functionality comes from the ability to partially normalize the serum ratio of 7-dehydrocholesterol/cholesterol in treated animals, apparently by increasing cholesterol production with concomitant decrease in the 7-dehydrocholesterol precursor. By five weeks after treatment the mean ratio for 7 animals has fallen to 0.05 while the ratio for untreated littermate controls has risen to 0.14
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Kandutsch, A.A.
Enzymatic reduction of the DELTA7 bond of 7-dehydrocholesterol
J. Biol. Chem.
237
358-362
1962
Mus musculus
Lee, J.N.; Bae, S.H.; Paik, Y.K.
Structure and alternative splicing of the rat 7-dehydrocholesterol reductase gene
Biochim. Biophys. Acta
1576
148-156
2002
Mus musculus (O88455), Mus musculus, Rattus norvegicus (Q9E2H5), Rattus norvegicus (Q9Z2Z8), Homo sapiens (Q9UBM7), Homo sapiens
Correa-Cerro, L.S.; Porter, F.D.
3beta-hydroxysterol DELTA7-reductase and the Smith-Lemli-Opitz syndrome
Mol. Genet. Metab.
84
112-126
2005
Homo sapiens, Mus musculus, Rattus norvegicus
Lin, X.; Chen, Z.; Yue, P.; Averna, M.; Ostlund, R.E.; Watson, M.A.; Schonfeldt, G.
A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation
Am. J. Physiol. Gastrointest. Liver Physiol.
290
1170-1176
2006
Mus musculus
-
Tadjuidje, E.; Hollemann, T.
Cholesterol homeostasis in development: The role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development
Dev. Dyn.
235
2095-2110
2006
Mus musculus, Xenopus laevis
Hagiwara, K.; Nakamura, Y.; Nishijima, M.; Yamakawa, Y.
Prevention of prion propagation by dehydrocholesterol reductase inhibitors in cultured cells and a therapeutic trial in mice
Biol. Pharm. Bull.
30
835-838
2007
Mus musculus
Marcos, J.; Shackleton, C.H.; Buddhikot, M.M.; Porter, F.D.; Watson, G.L.
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome)
Steroids
72
802-808
2007
Mus musculus
Serra, M.; Matabosch, X.; Ying, L.; Watson, G.; Shackleton, C.
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome
J. Steroid Biochem. Mol. Biol.
122
318-325
2010
Mus musculus, Mus musculus C57BL/6
Jiang, X.S.; Backlund, P.S.; Wassif, C.A.; Yergey, A.L.; Porter, F.D.
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency
Mol. Cell. Proteomics
9
1461-1475
2010
Mus musculus
Matabosch, X.; Ying, L.; Serra, M.; Wassif, C.A.; Porter, F.D.; Shackleton, C.; Watson, G.
Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer
J. Steroid Biochem. Mol. Biol.
122
303-309
2010
Mus musculus
Zou, L.; Li, L.; Porter, T.D.
7-Dehydrocholesterol reductase activity is independent of cytochrome P450 reductase
J. Steroid Biochem. Mol. Biol.
127
435-438
2011
Mus musculus
Kim, H.Y.; Korade, Z.; Tallman, K.A.; Liu, W.; Weaver, C.D.; Mirnics, K.; Porter, N.A.
Inhibitors of 7-dehydrocholesterol reductase: screening of a collection of pharmacologically active compounds in Neuro2a cells
Chem. Res. Toxicol.
29
892-900
2016
Mus musculus
Liu, W.; Xu, L.; Lamberson, C.; Haas, D.; Korade, Z.; Porter, N.A.
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome
J. Lipid Res.
55
329-337
2014
Mus musculus
Genaro-Mattos, T.C.; Allen, L.B.; Anderson, A.; Tallman, K.A.; Porter, N.A.; Korade, Z.; Mirnics, K.
Maternal aripiprazole exposure interacts with 7-dehydrocholesterol reductase mutations and alters embryonic neurodevelopment
Mol. Psychiatry
24
491-500
2019
Mus musculus (O88455), Mus musculus
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