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Information on EC 1.3.1.70 - DELTA14-sterol reductase and Organism(s) Homo sapiens and UniProt Accession Q14739

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IUBMB Comments
This enzyme acts on a range of steroids with a 14(15)-double bond.
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This record set is specific for:
Homo sapiens
UNIPROT: Q14739
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Word Map
The taxonomic range for the selected organisms is: Homo sapiens
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
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
C14-sterol reductase
-
lamin-B receptor
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14-dehydrocholesterol reductase
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14-reductase
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-
-
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3beta-hydroxysterol DELTA14-reductase
C-14 reductase
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-
-
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C-14 sterol reductase
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-
-
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C14-sterol reductase
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C14SR
-
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DELTA14-reductase
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-
-
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DELTA14-SR
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-
-
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DELTA14SR
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-
-
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DELTA7,14-steroid 14-reductase
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-
-
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DELTA7,14-sterol 14-reductase
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-
-
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DELTA7,14-sterol DELTA14-reductase
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-
-
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DELTA7,14-sterol-14-reductase
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-
-
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DELTA8,14-hydroxy steroid DELTA14(15)-reductase
-
-
-
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DELTA8,14-steroid 14-reductase
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-
-
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DELTA8,14-sterol 14-reductase
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-
-
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DELTA8,14-sterol DELTA14-reductase
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-
-
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DELTA8,14-sterol-14-reductase
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-
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FACKEL protein
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-
-
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lamin B receptor
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reductase, DELTA8,14-hydroxy steroid DELTA14(15)-
-
-
-
-
SR-1
-
-
sterol 14-reductase
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-
-
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sterol C-14 reductase
sterol C14-reductase
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-
-
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sterol DELTA14,15-reductase
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-
-
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sterol DELTA14-reductase
-
-
-
-
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
redox reaction
-
-
-
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oxidation
-
-
-
-
PATHWAY SOURCE
PATHWAYS
-
-, -, -, -, -, -, -, -, -, -
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 hide
69403-07-2
-
SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
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+
show the reaction diagram
-
-
-
?
dihydro-follicular fluid meiosis-activating sterol + NADPH + H+
dihydro-testis meiosis-activating sterol + NADP+
show the reaction diagram
-
-
-
?
follicular fluid meiosis-activating sterol + NADPH + H+
testis meiosis-activating sterol + NADP+
show the reaction diagram
-
-
-
?
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
show the reaction diagram
-
-
-
-
?
4,4-dimethyl-5alpha-cholesta-8,14-dien-3beta-ol + NADPH
4,4-dimethyl-5alpha-cholesta-8-en-3beta-ol + NADP+
show the reaction diagram
-
-
-
-
?
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
show the reaction diagram
-
-
-
?
5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
show the reaction diagram
5alpha-cholesta-8,14-dien-3beta-ol + NADPH + H+
5alpha-cholesta-8-en-3beta-ol + NADP+
show the reaction diagram
dihydro-follicular fluid meiosis-activating sterol + NADPH + H+
dihydro-testis meiosis-activating sterol + NADP+
show the reaction diagram
-
-
-
?
follicular fluid meiosis-activating sterol + NADPH + H+
testis meiosis-activating sterol + NADP+
show the reaction diagram
-
-
-
?
additional information
?
-
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
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+
show the reaction diagram
-
-
-
?
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
show the reaction diagram
-
-
-
?
5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
show the reaction diagram
the substrate accumulates in patients suffering autosomal recessive HEM/Greenberg skeletal dysplasia
-
-
?
additional information
?
-
COFACTOR
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
IMAGE
NADPH
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
high expression
Manually annotated by BRENDA team
highest expression
Manually annotated by BRENDA team
high expression
Manually annotated by BRENDA team
-
highest expression of LBR
Manually annotated by BRENDA team
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LBR
Manually annotated by BRENDA team
of an 18-weeks-old fetus with autosomal recessive HEM/Greenberg skeletal dysplasia showing enzyme-deficiency
Manually annotated by BRENDA team
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peripheral blood leukocyte, LBR
Manually annotated by BRENDA team
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foetal and adult, LBR
Manually annotated by BRENDA team
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LBR
Manually annotated by BRENDA team
highest expression in sun-exposed skin
Manually annotated by BRENDA team
-
LBR
Manually annotated by BRENDA team
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
patient, mutant TM7SF2
Manually annotated by BRENDA team
-
inner nuclear membrane, LBR
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
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?
LBR_HUMAN
615
8
70703
Swiss-Prot
other Location (Reliability: 3)
MOLECULAR WEIGHT
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
46600
x * 46600, mutant TM7SF2
SUBUNIT
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
?
x * 50000, SDS-PAGE
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
additional information
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
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 of LBR in COS-1 cells
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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
TM7SF2 expression in COS-1 cells
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TM7SF2 gene corresponds to DELTA14-SR, sterol DELTA14-reductase
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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
Manually annotated by BRENDA team
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
Manually annotated by BRENDA team
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
Manually annotated by BRENDA team
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
Manually annotated by BRENDA team
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)
Manually annotated by BRENDA team
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
Manually annotated by BRENDA team