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Human Metabolome Database Version 2.5

 

Showing metabocard for 7-Dehydrodesmosterol (HMDB03896)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2006-08-13 07:55:06
Update Date 2009-05-05 20:59:46
Accession Number HMDB03896
Secondary Accession Numbers Not Available
Common Name 7-Dehydrodesmosterol
Description 7-Dehydrodesmosterol is a sterol intermediate in the biosynthesis of steroids. 7-Dehydrodesmosterol is a substrate of the enzyme 24-dehydrocholesterol reductase (EC:1.3.1.72), an important enzyme in the biosynthesis of Cholesterol. Cholesterol is synthesized from either Lathosterol, 7-Dehydrocholesterol, Desmosterol or Cholestenol by the enzyme 3beta-hydroxysterol delta7 reductase (EC 1.3.1.21, Dhcr7). The Smith-Lemli-Opitz syndrome (SLOS, OMIM 270400) is caused by a genetic defect in cholesterol biosynthesis; mutations in the enzyme 3beta-hydroxysterol delta7 reductase lead to a failure of cholesterol synthesis, with an accumulation of precursor sterols, such as 7-Dehydrodesmosterol. SLOS results in craniofacial, limb as well as major organ defects, including the brain. In individuals with this syndrome, mental retardation, as well as other CNS dysfunction, is almost 100% prevalent. (PMID: 15862627, 17197219)
Synonyms
  1. Cholesta-5,7,24-trien-3beta-ol
  2. 24-Dehydroprovitamin D3
Chemical IUPAC Name (3S,9S,10R,13R,14R,17R)-10,13-dimethyl-17-[(2R)-6-methylhept-5-en-2-yl]-2,3,4,9,11,12,14,15,16,17-decahydro-1H-cyclopenta[a]phenanthren-3-ol
Chemical Formula C27H42O
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Cholesterols and derivatives
Class
  • Steroids and Steroid Derivatives
Sub Class
  • Vitamin D3 derivatives
Family
  • Mammalian Metabolite
Species
  • secondary alcohol
  • alkene
Biofunction
  • Hormones, Membrane component
Application
—
Source
  • Endogenous
Average Molecular Weight 382.622
Monoisotopic Molecular Weight 382.323578
Isomeric SMILES C[C@H](CCC=C(/C)C)[C@H]1CC[C@H]2C3=CC=C4C[C@@H](O)CC[C@]4(C)[C@H]3CC[C@]12C
Canonical SMILES CC(CCC=C(C)C)C1CCC2C3=CC=C4CC(O)CCC4(C)C3CCC12C
KEGG Compound ID C05107 Link Image
BioCyc ID Not Available
BiGG ID 45126 Link Image
Wikipedia Link Not Available
NuGOwiki Link HMDB03896 Link Image
Metagene Link HMDB03896 Link Image
METLIN ID Not Available
PubChem Compound 440558 Link Image
PubChem Substance 7533 Link Image
ChEBI ID Not Available
CAS Registry Number 1715-86-2
InChI Identifier InChI=1/C27H42O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h7,9-10,19,21,23-25,28H,6,8,11-17H2,1-5H3/t19-,21+,23-,24+,25+,26+,27-/m1/s1
Synthesis Reference Not Available
Melting Point (Experimental) Not Available
Experimental Water Solubility Not Available Source: PhysProp
Predicted Water Solubility 6.40e-04 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge 0
State Solid
Experimental LogP/Hydrophobicity 6.101 Source: PhysProp
Predicted LogP/Hydrophobicity 7.46 [Predicted by ALOGPS] Calculated using ALOGPS
Material Safety Data Sheet (MSDS) Not Available
MOL File Show
SDF File Show
PDB File Show
2D Structure
3D Structure
Experimental PDB ID Not Available
Experimental 1H NMR Spectrum Not Available
Experimental 13C NMR Spectrum Not Available
Experimental 13C HSQC Spectrum Not Available
Predicted 1H NMR Spectrum Show Image
Show Peaklist
Predicted 13C NMR Spectrum Show Image
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Mass Spectrum Not Available
Simplified TOCSY Spectrum Not Available
BMRB Spectrum Not Available
Cellular Location Not Available
Biofluid Location Not Available
Tissue Location Not Available
Concentrations (Normal) Not Available
Concentrations (Abnormal) Not Available
Associated Disorders Not Available
OMIM ID Not Available
Pathways
Name SMPDB Link KEGG Link
Steroid Biosynthesis SMP00023 Link Image map00100 Link Image
General References Not Available
Metabolic Enzymes
  1. 24-dehydrocholesterol reductase precursor
Enzyme 1 [top]
Enzyme 1 ID 7345
Enzyme 1 Name 24-dehydrocholesterol reductase precursor
Enzyme 1 Synonyms
  1. 3-beta- hydroxysterol delta-24-reductase
  2. Seladin-1
  3. Diminuto/dwarf1 homolog
Enzyme 1 Gene Name DHCR24
Enzyme 1 Protein Sequence >24-dehydrocholesterol reductase precursor 
MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKL
SSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMD
ILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKY
GLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSCGTLGFLVAAEIRIIPAKKYVKL
RFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYY
KPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVP
PKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQ
PGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREE
FWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH
Enzyme 1 Number of Residues 516
Enzyme 1 Molecular Weight 60102
Enzyme 1 Theoretical pI 8.24
Enzyme 1 GO Classification
Function
—
Process
  • cellular metabolism
  • electron transport
  • generation of precursor metabolites and energy
  • metabolism
  • physiological process
Component
—
Enzyme 1 General Function Energy production and conversion
Enzyme 1 Specific Function Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis
Enzyme 1 Pathways Not Available
Enzyme 1 Reactions Not Available
Enzyme 1 Pfam Domain Function
Enzyme 1 Signals
  • 1-22
Enzyme 1 Transmembrane Regions
  • 32-52
Enzyme 1 Essentiality Not Available
Enzyme 1 GenBank ID Protein 10442025 Link Image
Enzyme 1 UniProtKB/Swiss-Prot ID Q15392 Link Image
Enzyme 1 UniProtKB/Swiss-Prot Entry Name DHC24_HUMAN Link Image
Enzyme 1 PDB ID Not Available
Enzyme 1 Cellular Location Not Available
Enzyme 1 Gene Sequence >1551 bp 
ATGGAGCCCGCCGTGTCGCTGGCCGTGTGCGCGCTGCTCTTCCTGCTGTGGGTGCGCCTG
AAGGGGCTGGAGTTCGTGCTCATCCACCAGCGCTGGGTGTTCGTGTGCCTCTTCCTCCTG
CCGCTCTCGCTTATCTTCGATATCTACTACTACGTGCGCGCCTGGGTGGTGTTCAAGCTC
AGCAGCGCTCCGCGCCTGCACGAGCAGCGCGTGCGGGACATCCAGAAGCAGGTGCGGGAA
TGGAAGGAGCAGGGTAGCAAGACCTTCATGTGCACGGGGCGCCCTGGCTGGCTCACTGTC
TCACTACGTGTCGGGAAGTACAAGAAGACACACAAAAACATCATGATCAACCTGATGGAC
ATTCTGGAAGTGGACACCAAGAAACAGATTGTCCGTGTGGAGCCCTTGGTGACCATGGGC
CAGGTGACTGCCCTGCTGACCTCCATTGGCTGGACTCTCCCCGTGTTGCCTGAGCTTGAT
GACCTCACAGTGGGGGGCTTGATCATGGGCACAGGCATCGAGTCATCATCCCACAAGTAC
GGCCTGTTCCAACACATCTGCACTGCTTACGAGCTGGTCCTGGCTGATGGCAGCTTTGTG
CGATGCACTCCGTCCGAAAACTCAGACCTGTTCTATGCCGTACCCTGGTCCTGTGGGACG
CTGGGTTTCCTGGTGGCCGCTGAGATCCGCATCATCCCTGCCAAGAAGTACGTCAAGCTG
CGTTTCGAGCCAGTGCGGGGCCTGGAGGCTATCTGTGCCAAGTTCACCCACGAGTCCCAG
CGGCAGGAGAACCACTTCGTGGAAGGGCTGCTCTACTCCCTGGATGAGGCTGTCATTATG
ACAGGGGTCATGACAGATGAGGCAGAGCCCAGCAAGCTGAATAGCATTGGCAATTACTAC
AAGCCGTGGTTCTTTAAGCATGTGGAGAACTATCTGAAGACAAACCGAGAGGGCCTGGAG
TACATTCCCTTGAGACACTACTACCACCGCCACACGCGCAGCATCTTCTGGGAGCTCCAG
GACATCATCCCCTTTGGCAACAACCCCATCTTCCGCTACCTCTTTGGCTGGATGGTGCCT
CCCAAGATCTCCCTCCTGAAGCTGACCCAGGGTGAGACCCTGCGCAAGCTGTACGAGCAG
CACCACGTGGTGCAGGACATGCTGGTGCCCATGAAGTGCCTGCAGCAGGCCCTGCACACC
TTCCAAAACGACATCCACGTCTACCCCATCTGGCTGTGTCCGTTCATCCTGCCCAGCCAG
CCAGGCCTAGTGCACCCCAAAGGAAATGAGGCAGAGCTCTACATCGACATTGGAGCATAT
GGGGAGCCGCGTGTGAAACACTTTGAAGCCAGGTCCTGCATGAGGCAGCTGGAGAAGTTT
GTCCGCAGCGTGCATGGCTTCCAGATGCTGTATGCCGACTGCTACATGAACCGGGAGGAG
TTCTGGGAGATGTTTGATGGCTCCTTGTACCACAAGCTGCGAGAGAAGCTGGGTTGCCAG
GACGCCTTCCCCGAGGTGTACGACAAGATCTGCAAGGCCGCCAGGCACTGA
Enzyme 1 GenBank Gene ID AF261758 Link Image
Enzyme 1 GeneCard ID DHCR24 Link Image
Enzyme 1 GenAtlas ID DHCR24 Link Image
Enzyme 1 HGNC ID HGNC:2859 Link Image
Enzyme 1 Chromosome Location 1
Enzyme 1 Locus 1p33-p31.1
Enzyme 1 SNPs SNPJam Report Link Image
Enzyme 1 General References
  1. Greeve I, Hermans-Borgmeyer I, Brellinger C, Kasper D, Gomez-Isla T, Behl C, Levkau B, Nitsch RM: The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. J Neurosci. 2000 Oct 1;20(19):7345-52. [PubMed Link Image]
  2. Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ: Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet. 2001 Oct;69(4):685-94. Epub 2001 Aug 22. [PubMed Link Image]
  3. Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S: Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. DNA Res. 1994;1(1):27-35. [PubMed Link Image]
Enzyme 1 Metabolite References Not Available