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Human Metabolome Database Version 2.5

 

Showing metabocard for Desmosterol (HMDB02719)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2006-05-22 16:12:05
Update Date 2009-05-14 16:52:59
Accession Number HMDB02719
Secondary Accession Numbers Not Available
Common Name Desmosterol
Description Desmosterol is an intermediate in the synthesis of cholesterol. Desmosterolosis is a rare autosomal recessive inborn errors of cholesterol synthesis that is caused by defective activity of desmosterol reductase which results in an accumulation of demosterol (DHCR24, EC 1.3.1.72), combines a severe osteosclerotic skeletal dysplasia and includes 2-3 toe syndactyly with Smith-Lemli-Opitz syndrome (SLOS; the biochemical block in SLOS results in decreased cholesterol levels and increased 7-dehydrocholesterol levels). Desmosterolosis is caused by mutation of the 24-dehydrocholesterol reductase gene (DHCR24). Many of the malformations in SLOS and desmosterolosis are consistent with impaired hedgehog function. The hedgehog proteins include Sonic hedgehog (SHH), which plays a major role in midline patterning and limb development. Desmosterolosis, caused by defective activity of desmosterol reductase, combines a severe osteosclerotic skeletal dysplasia. 7-dehydrocholesterol reductase (DHCR7, EC 1.3.1.21) reduces the C7-C8 double bond in the sterol B ring to form cholesterol or desmosterol depending upon the precursor. Desmosterol can be converted to cholesterol by DHCR24. Therefore, SLOS and Desmosterolosis patients invariably have elevated levels of cholesterol precursor's 7-dehydrocholesterol (and its spontaneous isomer 8-dehydrocholesterol) and absent desmosterol. (PMID: 14631207, 16207203)
Synonyms
  1. 24-Dehydrocholesterol
  2. 3beta-cholesta-5,24-dien-3-ol
  3. Cholesta-5,24-dien-3-ol
  4. Cholesta-5,24-dien-3b-ol
  5. Cholesta-5,24-dien-3beta-ol
  6. Desmosterol
  7. cholest-5,24-dien-3beta-ol
Chemical IUPAC Name (3S,8S,9S,10R,13R,14S,17R)-10,13-dimethyl-17-[(2R)-6-methylhept-5-en-2-yl]-2,3,4,7,8,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol
Chemical Formula C27H44O
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Cholesterols and derivatives
Class
  • Steroids and Steroid Derivatives
Sub Class
  • Miscellaneous steroids
Family
  • Mammalian Metabolite
Species
  • secondary alcohol
  • alkene
Biofunction
  • Hormones, Membrane component
Application
—
Source
  • Endogenous
Average Molecular Weight 384.638
Monoisotopic Molecular Weight 384.339203
Isomeric SMILES C[C@H](CCC=C(C)C)[C@H]1CC[C@H]2[C@@H]3CC=C4C[C@@H](O)CC[C@]4(C)[C@H]3CC[C@]12C
Canonical SMILES CC(CCC=C(C)C)C1CCC2C3CC=C4CC(O)CCC4(C)C3CCC12C
KEGG Compound ID C01802 Link Image
BioCyc ID CPD-4141 Link Image
BiGG ID 38445 Link Image
Wikipedia Link Not Available
NuGOwiki Link HMDB02719 Link Image
Metagene Link HMDB02719 Link Image
METLIN ID 423 Link Image
PubChem Compound 439577 Link Image
PubChem Substance 8144027 Link Image
ChEBI ID 17737 Link Image
CAS Registry Number 313-04-2
InChI Identifier InChI=1/C27H44O/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/h7,9,19,21-25,28H,6,8,10-17H2,1-5H3/t19-,21+,22+,23-,24+,25+,26+,27-/m1/s1
Synthesis Reference Kircher, Henry W.; Rosenstein, Fumiko U. Preparation of desmosterol from (20S,22R,S)-3b-acetoxychola-5,23-dien-22-ol. Journal of Organic Chemistry (1987), 52(12), 2586-8.
Melting Point (Experimental) 121.5 oC
Experimental Water Solubility Not Available Source: PhysProp
Predicted Water Solubility 1.99e-07 mg/mL at 25 oC [MEYLAN,WM et al. (1996)]; 1.14e-04 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge 0
State Solid
Experimental LogP/Hydrophobicity Not Available Source: PhysProp
Predicted LogP/Hydrophobicity 6.62 [Predicted by ALOGPS]; 7.3 [Predicted by PubChem via XLOGP]; 8.65 [MEYLAN,WM & HOWARD,PH (1995)] Calculated using ALOGPS
Material Safety Data Sheet (MSDS)
MOL File Show Link Image
SDF File Show Link Image
PDB File Show Link Image
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
Show Peaklist
Mass Spectrum Not Available
Simplified TOCSY Spectrum Not Available
BMRB Spectrum Not Available
Cellular Location
  • Membrane (Predicted from LogP)
  • endoplasmic reticulum
Biofluid Location
  • Blood
  • Semen
Tissue Location
Tissue References
Brain —
Kidney —
Concentrations (Normal)
Biofluid Blood
Value 2.9 +/- 0.2 uM
Age Adult:>18 yrs old
Sex N/A
Patient information Normal
Comments Not Available
References
  • Nikkila K, Hockerstedt K, Miettinen TA: High cholestanol and low campesterol-to-sitosterol ratio in serum of patients with primary biliary cirrhosis before liver transplantation. Hepatology. 1991 Apr;13(4):663-9. [PubMed Link Image]
Biofluid Blood
Value 2.37 +/- 1.04 uM
Age Adult:>18 yrs old
Sex N/A
Patient information Normal
Comments Not Available
References
  • Ahmida HS, Bertucci P, Franzo L, Massoud R, Cortese C, Lala A, Federici G: Simultaneous determination of plasmatic phytosterols and cholesterol precursors using gas chromatography-mass spectrometry (GC-MS) with selective ion monitoring (SIM). J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Sep 14;842(1):43-7. Epub 2006 Jun 27. [PubMed Link Image]
Biofluid Semen
Value 180 +/- 20 uM
Age Adult:>18 yrs old
Sex Male
Patient information Normal
Comments Not Available
References
  • Sion B, Grizard G, Boucher D: Quantitative analysis of desmosterol, cholesterol and cholesterol sulfate in semen by high-performance liquid chromatography. J Chromatogr A. 2001 Nov 23;935(1-2):259-65. [PubMed Link Image]
Concentrations (Abnormal)
Biofluid Blood
Value 2.9 +/- 0.4 uM
Age Adult:>18 yrs old
Sex N/A
Condition Primary biliary cirrhosis
Comments Not Available
References
  • Nikkila K, Hockerstedt K, Miettinen TA: High cholestanol and low campesterol-to-sitosterol ratio in serum of patients with primary biliary cirrhosis before liver transplantation. Hepatology. 1991 Apr;13(4):663-9. [PubMed Link Image]
Associated Disorders
Condition References
Primary biliary cirrhosis
  • Nikkila K, Hockerstedt K, Miettinen TA: High cholestanol and low campesterol-to-sitosterol ratio in serum of patients with primary biliary cirrhosis before liver transplantation. Hepatology. 1991 Apr;13(4):663-9. [PubMed Link Image]
OMIM ID
Pathways
Name SMPDB Link KEGG Link
Steroid Biosynthesis SMP00023 Link Image map00100 Link Image
General References
  1. Rosenfeld RS, Bradlow HL, Levin J, Zumoff B: Preparation of [24,25-3H] cholesterol. Oxidation in man as a measure of bile acid formation. J Lipid Res. 1978 Sep;19(7):850-5. [PubMed Link Image]
  2. Siirtola A, Ketomaki A, Miettinen TA, Gylling H, Lehtimaki T, Holmberg C, Salo MK, Antikainen M: Cholesterol absorption and synthesis in pediatric kidney, liver, and heart transplant recipients. Transplantation. 2006 Feb 15;81(3):327-34. [PubMed Link Image]
  3. Dennick RG, Dean PD, Abramovich DA: Desmosterol levels in human foetal brain--a reassessment. J Neurochem. 1973 Apr;20(4):1293-4. [PubMed Link Image]
  4. Miettinen TE, Kesaniemi YA, Gylling H, Jarvinen H, Silvennoinen E, Miettinen TA: Noncholesterol sterols in bile and stones of patients with cholesterol and pigment stones. Hepatology. 1996 Feb;23(2):274-80. [PubMed Link Image]
  5. Nordby G, Norum KR: Substrate specificity of lecithin:cholesterol acyltransferase. Esterification of desmosterol, b-sitosterol, and cholecalciferol in human plasma. Scand J Clin Lab Invest. 1975 Nov;35(7):677-82. [PubMed Link Image]
  6. Beasley CL, Honer WG, Bergmann K, Falkai P, Lutjohann D, Bayer TA: Reductions in cholesterol and synaptic markers in association cortex in mood disorders. Bipolar Disord. 2005 Oct;7(5):449-55. [PubMed Link Image]
  7. Paoletti P, Pezzotta S, Racca AR, Fumagalli R: Chemotherapy of human nervous system tumors: influence on cerebrospinal fluid sterols. Natl Cancer Inst Monogr. 1977 Dec;46:125-6. [PubMed Link Image]
  8. Phillips KM, Ruggio DM, Bailey JA: Precise quantitative determination of phytosterols, stanols, and cholesterol metabolites in human serum by capillary gas-liquid chromatography. J Chromatogr B Biomed Sci Appl. 1999 Sep 10;732(1):17-29. [PubMed Link Image]
  9. Volpe JJ, Hennessy SW: Cholesterol biosynthesis and 3-hydroxy-3-methyl-glutaryl coenzyme A reductase in cultured glial and neuronal cells. Regulation by lipoprotein and by certain free sterols. Biochim Biophys Acta. 1977 Mar 25;486(3):408-20. [PubMed Link Image]
  10. Clark RM, Fey MB, Jensen RG, Hill DW: Desmosterol in human milk. Lipids. 1983 Mar;18(3):264-6. [PubMed Link Image]
  11. Miettinen TA, Kesaniemi YA, Jarvinen H, Hastbacka J: Cholesterol precursor sterols, plant sterols, and cholestanol in human bile and gallstones. Gastroenterology. 1986 Apr;90(4):858-64. [PubMed Link Image]
Metabolic Enzymes
  1. 24-dehydrocholesterol reductase
Enzyme 1 [top]
Enzyme 1 ID 7345
Enzyme 1 Name 24-dehydrocholesterol reductase
Enzyme 1 Synonyms
  1. 3-beta-hydroxysterol delta-24-reductase
  2. Diminuto/dwarf1 homolog
  3. Seladin-1
Enzyme 1 Gene Name DHCR24
Enzyme 1 Protein Sequence >24-dehydrocholesterol reductase 
MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKL
SSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMD
ILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKY
GLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSCGTLGFLVAAEIRIIPAKKYVKL
RFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYY
KPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVP
PKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQ
PGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREE
FWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH
Enzyme 1 Number of Residues 516
Enzyme 1 Molecular Weight 60100.8
Enzyme 1 Theoretical pI 8.24
Enzyme 1 GO Classification
Function
  • FAD or FADH2 binding
  • adenyl nucleotide binding
  • binding
  • catalytic activity
  • nucleoside binding
  • oxidoreductase activity
  • purine nucleoside binding
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 Not Available
Enzyme 1 HGNC ID Not Available
Enzyme 1 Chromosome Location 1
Enzyme 1 Locus 1p32.3
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]
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed Link Image]
  5. Molina H, Horn DM, Tang N, Mathivanan S, Pandey A: Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2199-204. Epub 2007 Feb 7. [PubMed Link Image]
Enzyme 1 Metabolite References Not Available