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Information on EC 1.3.1.70 - DELTA14-sterol reductase and Organism(s) Homo sapiens and UniProt Accession O76062
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1.3.1.70 DELTA14-sterol reductaseIUBMB Comments
This enzyme acts on a range of steroids with a 14(15)-double bond.
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Word Map
- 1.3.1.70
- lamins
- envelope
- chromatin
- heterochromatin
- nucleoplasm
- ergosterol
- lanosterol
-
emerin
-
lamina-associated
-
greenberg
- laminopathies
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14alpha-demethylase
- fenpropimorph
-
ff-mas
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chromatin-binding
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hypolobulated
- pharmacology
-
pelger-huet
- agriculture
- analysis
The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria
Synonyms
lamin b receptor, erg24, tm7sf2, 14-reductase, sterol c-14 reductase, dhcr14, c14sr, fackel, delta14-reductase, fk-j3158, 
more
topSYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
14-reductase
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3beta-hydroxysterol DELTA14-reductase
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besides the endoplasmic reticulum 3beta-hydroxysterol DELTA14-reductase (C14SR) encoded by TM7SF2 gene, the lamin B receptor (LBR) of the inner nuclear membrane possesses 3beta-hydroxysterol DELTA14-reductase activity
C-14 reductase
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C-14 sterol reductase
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DELTA14-reductase
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DELTA14-SR
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DELTA14SR
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DELTA7,14-steroid 14-reductase
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DELTA7,14-sterol 14-reductase
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DELTA7,14-sterol DELTA14-reductase
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DELTA7,14-sterol-14-reductase
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DELTA8,14-hydroxy steroid DELTA14(15)-reductase
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DELTA8,14-steroid 14-reductase
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DELTA8,14-sterol 14-reductase
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DELTA8,14-sterol DELTA14-reductase
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DELTA8,14-sterol-14-reductase
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FACKEL protein
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LBR
reductase, DELTA8,14-hydroxy steroid DELTA14(15)-
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sterol 14-reductase
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sterol C-14 reductase
sterol C14-reductase
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sterol DELTA14,15-reductase
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sterol DELTA14-reductase
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sterol C-14 reductase
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
redox reaction
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oxidation
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PATHWAY SOURCE
PATHWAYS
BRENDA
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-, -, -, -, -, -, -, -, -, -
SYSTEMATIC NAME
IUBMB Comments
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol:NADP+ DELTA14-oxidoreductase
This enzyme acts on a range of steroids with a 14(15)-double bond.
CAS REGISTRY NUMBER
COMMENTARY
69403-07-2
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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
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
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-
-
?
dihydro-follicular fluid meiosis-activating sterol + NADPH + H+
dihydro-testis meiosis-activating sterol + NADP+
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-
-
?
follicular fluid meiosis-activating sterol + NADPH + H+
testis meiosis-activating sterol + NADP+
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-
-
?
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
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-
-
-
?
4,4-dimethyl-5alpha-cholesta-8,14-dien-3beta-ol + NADPH
4,4-dimethyl-5alpha-cholesta-8-en-3beta-ol + NADP+
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-
-
-
?
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
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-
-
?
dihydro-follicular fluid meiosis-activating sterol + NADPH + H+
dihydro-testis meiosis-activating sterol + NADP+
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-
-
?
follicular fluid meiosis-activating sterol + NADPH + H+
testis meiosis-activating sterol + NADP+
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-
-
?
5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
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-
-
?
5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
the substrate accumulates in patients suffering autosomal recessive HEM/Greenberg skeletal dysplasia
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-
?
5alpha-cholesta-8,14-dien-3beta-ol + NADPH + H+
5alpha-cholesta-8-en-3beta-ol + NADP+
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LBR
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-
?
5alpha-cholesta-8,14-dien-3beta-ol + NADPH + H+
5alpha-cholesta-8-en-3beta-ol + NADP+
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TM7SF2
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-
?
additional information
?
-
enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
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-
?
additional information
?
-
enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
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-
?
additional information
?
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-
enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
-
-
?
additional information
?
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enzyme acts on a range of steroids with a 14(15)-double bond
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?
additional information
?
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14-reductase has a important regulatory role in the overall cholesterol synthetic pathway
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?
additional information
?
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important essential enzyme of cholesterol biosynthesis from lanosterol
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?
additional information
?
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enzyme plays a key role in sterol biosynthesis, sterol content in vivo
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?
additional information
?
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C14SR is encoded by the TM7SF2 gene. TM7SF2 but not LBR, gene expression is regulated by cell sterol levels in HepG2 (human) and H-35 (rat) hepatoma cells. Primary role of C14SR in human cholesterol biosynthesis
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-
?
additional information
?
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role of LBR in the cholesterol biosynthesis pathway is unclear
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?
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
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
-
-
-
?
5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
the substrate accumulates in patients suffering autosomal recessive HEM/Greenberg skeletal dysplasia
-
-
?
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
-
-
-
?
additional information
?
-
enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
-
-
?
additional information
?
-
enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
-
-
?
additional information
?
-
-
enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
-
-
?
additional information
?
-
-
14-reductase has a important regulatory role in the overall cholesterol synthetic pathway
-
-
?
additional information
?
-
-
important essential enzyme of cholesterol biosynthesis from lanosterol
-
-
?
additional information
?
-
-
enzyme plays a key role in sterol biosynthesis, sterol content in vivo
-
-
?
additional information
?
-
-
C14SR is encoded by the TM7SF2 gene. TM7SF2 but not LBR, gene expression is regulated by cell sterol levels in HepG2 (human) and H-35 (rat) hepatoma cells. Primary role of C14SR in human cholesterol biosynthesis
-
-
?
additional information
?
-
-
role of LBR in the cholesterol biosynthesis pathway is unclear
-
-
?
COFACTOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SOURCE
of an 18-weeks-old fetus with autosomal recessive HEM/Greenberg skeletal dysplasia showing enzyme-deficiency
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in foetal heart the expression is much lower then in the adult heart, TM7SF2
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in foetal thymus expression is much higher than in the adult thymus, TM7SF2
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
additional information
TM7SF2 gene expression is controlled by cell sterol levels through the SREBP-2, motifs of TM7SF2 promoter responsible for activation by SREBP-2 are the SRE motif, and both the inverted CCAAT-box and GC-box2, which are essential for full promoter activation by SREBP-2, overview. Binding of SREBP-2 to SRE produces approximately 26fold promoter activation, whereas mutation of the SRE motif causes a dramatic decrease of transactivation by SREBP-2
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). ERG24_HUMAN
418
7
46406
Swiss-Prot
Secretory Pathway (Reliability: 1)
MOLECULAR WEIGHT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SUBUNIT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
additional information
additional information
enzyme deficiency due to mutations in the lamin B receptor gene causes autosomal recessive HEM/Greenberg skeletal dysplasia
additional information
enzyme deficiency due to mutations in the lamin B receptor gene causes autosomal recessive HEM/Greenberg skeletal dysplasia
additional information
-
enzyme deficiency due to mutations in the lamin B receptor gene causes autosomal recessive HEM/Greenberg skeletal dysplasia
GENERAL STABILITY
ORGANISM
UNIPROT
LITERATURE
The enzyme is degraded by the proteasome and ubiquitinated. Enzyme turnover is triggered by a wide variety of sterols
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
gene TM7SF2, promoter analysis, the promoter contains a 5'-ATTGG-3' sequence, an inverted CCAAT-box, 14 bp upstream the -73/-64 SRE-like motif, and is a region responsible for promoter regulation by sterols and by coexpressed SREBP-2, expression analysis, overview
a Neurospora crassa enzyme-deficient erg-3 mutant strain mat a and a yeast erg-4 mutant strain AP2 cannot be complemented by expression of 6 chimeric enzyme mutants variants constructed from the enzyme encoded by gene TM7SF2 and the Neurospora crassa gene erg-3 encoded enzyme
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DNA and amino acid sequence determination and analysis of 2 mutants, i.e. TM7SF2 and LBR, with autosomal recessive HEM/Greenberg skeletal dysplasia expressing a defective, truncated enzyme
EXPRESSION
ORGANISM
UNIPROT
LITERATURE
TM7SF2 gene expression is controlled by cell sterol levels through the SREBP-2, motifs of TM7SF2 promoter responsible for activation by SREBP-2 are the SRE motif, and both the inverted CCAAT-box and GC-box2, which are essential for full promoter activation by SREBP-2, overview. Binding of SREBP-2 to SRE produces approximately 26fold promoter activation
TM7SF2 gene expression is controlled by cell sterol levels through the SREBP-2, mutation of the SRE motif causes a dramatic decrease of transactivation by SREBP-2
under conditions of low cholesterol, enzyme gene expression is up-regulated by SREBP-2
when cholesterol levels are high, enzyme gene expression is inhibited
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Roberti, R.; Bennati, A.M.; Galli, G.; Caruso, D.; Maras, B.; Aisa, C.; Beccari, T.; Della Fazia, M.A.; Servillo, G.
Cloning and expression of sterol DELTA14-reductase from bovine liver
Eur. J. Biochem.
269
283-290
2002
Bos taurus, Homo sapiens
Waterham, H.R.; Koster, J.; Mooyer, P.; Noort Gv, G.; Kelley, R.I.; Wilcox, W.R.; Wanders, R.J.; Hennekam, R.C.; Oosterwijk, J.C.
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3beta-hydroxysterol DELTA14-reductase deficiency due to mutations in the lamin B receptor gene
Am. J. Hum. Genet.
72
1013-1017
2003
Homo sapiens (O76062), Homo sapiens (Q14739), Homo sapiens
Prakash, A.; Kasbekar, D.P.
Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants
J. Biosci.
27
105-112
2002
Homo sapiens, Neurospora crassa
Bennati, A.M.; Castelli, M.; Della Fazia, M.A.; Beccari, T.; Caruso, D.; Servillo, G.; Roberti, R.
Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol DELTA14-reductase in human cholesterol biosynthesis
Biochim. Biophys. Acta
1761
677-685
2006
Homo sapiens
Schiavoni, G.; Bennati, A.M.; Castelli, M.; Fazia, M.A.; Beccari, T.; Servillo, G.; Roberti, R.
Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol regulatory element, a GC-box, and an inverted CCAAT-box
Biochim. Biophys. Acta
1801
587-592
2010
Homo sapiens (O76062)
Capell-Hattam, I.M.; Sharpe, L.J.; Qian, L.; Hart-Smith, G.; Prabhu, A.V.; Brown, A.J.
Twin enzymes, divergent control The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally
J. Biol. Chem.
295
2850-2865
2020
Homo sapiens (O76062), Homo sapiens (Q14739), Homo sapiens
EXTERNAL LINKS (specific for EC-Number 1.3.1.70)
Transporter Classification Database (TCDB): 1.I.1.1.5
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