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Human Metabolome Database Version 2.5

 

Showing metabocard for Lathosterol (HMDB01170)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2005-11-16 15:48:42
Update Date 2010-04-16 16:23:46
Accession Number HMDB01170
Secondary Accession Numbers Not Available
Common Name Lathosterol
Description Lathosterol is a a sterol (a combination steroid and alcohol) and a lipid found in the cell membranes of all body tissues, and transported in the blood plasma of all animals. It is used as an indicator of whole-body cholesterol synthesis (PMID 14511438). Plasma lathosterol levels are significantly elevated in patients with bile acid malabsorption (PMID: 8777839). Lathosterol oxidase (EC 1.14.21.6) is an enzyme that catalyzes the chemical reaction 5alpha-cholest-7-en-3beta-ol + NAD(P)H + H+ + O2 cholesta-5,7-dien-3beta-ol + NAD(P)+ + 2 H2O
Synonyms
  1. (3beta)-Cholest-7-en-3-ol
  2. (3beta,5alpha)-Cholest-7-en-3-ol
  3. (3beta,alpha)-Cholest-7-en-3-ol
  4. (7)-Cholestenol
  5. 3b-Hydroxy-5-cholestene
  6. 3beta-Hydroxy-5alpha-cholest-7-ene
  7. 5alpha-cholest-7-en-3beta-ol
  8. 7-Cholesten-3-beta-ol
  9. 7-Cholestenol
  10. 7-Cholesterol
  11. Cholest-7-en-3-ol
  12. Cholest-7-en-3beta-ol
  13. Cholesterol - synthetic
  14. Cholesterol Pharma
  15. Cholesterol,NF Grade
  16. DELTA7-Cholesten-3beta-ol
  17. DELTA7-Cholestenol
  18. Lathosterol
  19. cholest-7-en-ol
  20. cholesterol extra pure
  21. cholesterol gr
  22. delta(7)-Cholestenol
  23. gamma-Cholestenol
  24. gamma-Cholesterol
  25. 5-alpha-cholest-7-en-3-beta-ol
  26. 5-a-cholest-7-en-3-beta-ol
Chemical IUPAC Name 10,13-dimethyl-17-(6-methylheptan-2-yl)-2,3,4,5,6,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol
Chemical Formula C27H46O
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 386.654
Monoisotopic Molecular Weight 386.354858
Isomeric SMILES CC(C)CCC[C@@H](C)[C@H]1CC[C@H]2C3=CC[C@H]4C[C@@H](O)CC[C@]4(C)[C@H]3CC[C@]12C
Canonical SMILES CC(C)CCCC(C)C1CCC2C3=CCC4CC(O)CCC4(C)C3CCC12C
KEGG Compound ID C01189 Link Image
BioCyc ID CPD-4186 Link Image
BiGG ID 37036 Link Image
Wikipedia Link Not Available
NuGOwiki Link HMDB01170 Link Image
Metagene Link HMDB01170 Link Image
METLIN ID 6052 Link Image
PubChem Compound 65728 Link Image
PubChem Substance 207761 Link Image
ChEBI ID 17168 Link Image
CAS Registry Number 80-99-9
InChI Identifier InChI=1/C27H46O/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/h10,18-21,23-25,28H,6-9,11-17H2,1-5H3/t19-,20+,21+,23-,24+,25+,26+,27-/m1/s1
Synthesis Reference Fieser, Louis F. Cholesterol and companions. III. Cholestanol, lathosterol, and ketone 104. Journal of the American Chemical Society (1953), 75 4395-403.
Melting Point (Experimental) 122.0oC
Experimental Water Solubility Not Available Source: PhysProp
Predicted Water Solubility 3.50e-05 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge 0
State Solid
Experimental LogP/Hydrophobicity Not Available Source: PhysProp
Predicted LogP/Hydrophobicity 7.40 [Predicted by ALOGPS]; 8.4 [Predicted by PubChem via XLOGP] Calculated using ALOGPS
Material Safety Data Sheet (MSDS)
MOL File Show
SDF File Show
PDB File Show
2D Structure
3D Structure
Experimental PDB ID Not Available
Experimental 1H NMR Spectrum Download Spectrum
Download FID (Bruker)
Show Experimental Conditions Link Image
Experimental 13C NMR Spectrum Not Available
Experimental 13C HSQC Spectrum Download Spectrum
Download FID (Bruker)
Show Experimental Conditions Link Image
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
Tissue Location
Tissue References
Adipose Tissue
Adrenal Cortex
Adrenal Gland
Adrenal Medulla
Bladder
Brain
Eye Lens
Fetus
Fibroblasts
Gonads
Gut
Intestine
Kidney
Liver
Muscle
Myelin
Nerve Cells
Neuron
Pancreas
Placenta
Platelet
Prostate
Skeletal Muscle
Skin
Concentrations (Normal)
Biofluid Blood
Value 9.9 +/- 7.0 uM
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Age range: 27-59 years old, n=34, normal liver function test and serum cholesterol levels below 240 mg per dl
References
  • Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed Link Image]
Concentrations (Abnormal)
Biofluid Blood
Value 67.5 +/- 58.4 uM
Age Adult:>18 yrs old
Sex Both
Condition Cerebrotendinous xanthomatosis
Comments Age range: 13 to 35 years old, n=5
References
  • Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed Link Image]
Biofluid Blood
Value 9.6 (5.4-13.5) uM
Age Adult:>18 yrs old
Sex Female
Condition Cirrhosis
Comments n=2, ages of 54 and 75 years old (average age of 64.5 years)
References
  • Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed Link Image]
Associated Disorders
Condition References
Cerebrotendinous xanthomatosis
  • Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed Link Image]
Cirrhosis
  • Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed Link Image]
OMIM ID
  • 213700 Link Image (Cerebrotendinous xanthomatosis)
Pathways
Name SMPDB Link KEGG Link
Steroid Biosynthesis SMP00023 Link Image map00100 Link Image
General References
  1. Paiva H, Thelen KM, Van Coster R, Smet J, De Paepe B, Mattila KM, Laakso J, Lehtimaki T, von Bergmann K, Lutjohann D, Laaksonen R: High-dose statins and skeletal muscle metabolism in humans: a randomized, controlled trial. Clin Pharmacol Ther. 2005 Jul;78(1):60-8. [PubMed Link Image]
  2. Rioux FM, Innis SM: Cholesterol and fatty acid metabolism in piglets fed sow milk or infant formula with or without addition of cholesterol. Metabolism. 1993 Dec;42(12):1552-9. [PubMed Link Image]
  3. Laaksonen R, Thelen KM, Paiva H, Matinheikki J, Vesalainen R, Janatuinen T, Knuuti J, Rontu R, von Bergmann K, Lutjohann D, Lehtimaki T: Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man. Atherosclerosis. 2006 Mar;185(1):206-9. Epub 2005 Jul 11. [PubMed Link Image]
  4. Nikkila K, Hockerstedt K, Miettinen TA: Liver transplantation modifies serum cholestanol, cholesterol precursor and plant sterol levels. Clin Chim Acta. 1992 Jun 30;208(3):205-18. [PubMed Link Image]
  5. Lutjohann D, Harzer K, Gieselmann V, Eckhardt M: Reduced brain cholesterol content in arylsulfatase A-deficient mice. Biochem Biophys Res Commun. 2006 Jun 2;344(2):647-50. Epub 2006 Apr 7. [PubMed Link Image]
  6. Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G: Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet. 2002 Oct;71(4):952-8. Epub 2002 Aug 20. [PubMed Link Image]
  7. Hamilton JJ, Synnes A, Innis SM: Plasma cholesterol and lathosterol levels in term infants in the early neonatal period. Pediatr Res. 1992 Apr;31(4 Pt 1):396-400. [PubMed Link Image]
Metabolic Enzymes
  1. Lathosterol oxidase
  2. Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
  3. 3-keto-steroid reductase
  4. 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
  5. 24-dehydrocholesterol reductase precursor
  6. Uncharacterized protein SC4MOL
Enzyme 1 [top]
Enzyme 1 ID 5367
Enzyme 1 Name Lathosterol oxidase
Enzyme 1 Synonyms
  1. Lathosterol 5-desaturase
  2. Delta(7-sterol 5-desaturase
  3. C-5 sterol desaturase
  4. Sterol-C5- desaturase
Enzyme 1 Gene Name SC5DL
Enzyme 1 Protein Sequence >Lathosterol oxidase
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDH
ALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELV
VSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPY
HIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE
Enzyme 1 Number of Residues 299
Enzyme 1 Molecular Weight 35301
Enzyme 1 Theoretical pI 8.24
Enzyme 1 GO Classification
Function
  • catalytic activity
Process
  • metabolism
  • physiological process
Component
Enzyme 1 General Function Lipid transport and metabolism
Enzyme 1 Specific Function Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol
Enzyme 1 Pathways Not Available
Enzyme 1 Reactions Not Available
Enzyme 1 Pfam Domain Function
Enzyme 1 Signals
  • None
Enzyme 1 Transmembrane Regions
  • 32-52 79-99 117-137 186-206
Enzyme 1 Essentiality Not Available
Enzyme 1 GenBank ID Protein 1906796 Link Image
Enzyme 1 UniProtKB/Swiss-Prot ID O75845 Link Image
Enzyme 1 UniProtKB/Swiss-Prot Entry Name SC5D_HUMAN Link Image
Enzyme 1 PDB ID Not Available
Enzyme 1 Cellular Location Not Available
Enzyme 1 Gene Sequence >711 bp
ATGGATCTTGTACTCCGTGTTGCAGATTACTATTTTTTTACACCATACGTGTATCCAGCC
ACATGGCCAGAAGATGACATCTTCCGACAAGCTATTAGTCTTCTGATTGTAACAAATGTT
GGTGCTTACATCCTTTATTTCTTCTGTGCAACACTGAGCTATTATTTTGTCTTCGATCAT
GCATTAATGAAACATCCACAATTTTTAAAGAATCAAGTCCGTCGAGAGATTAAGTTTACT
GTCCAGGCATTGCCATGGATAAGTATTCTTACTGTTGCACTGTTCTTGCTGGAGATAAGA
GGTTACAGCAAATTACATGATGACCTAGGAGAGTTTCCATATGGATTGTTTGAACTTGTC
GTTAGTATAATATCTTTCCTCTTTTTCACTGACATGTTCATCTACTGGATTCACAGAGGC
CTTCATCATAGACTGGTATATAAGCGCCTACATAAACCTCACCATATTTGGAAGATTCCT
ACTCCATTTGCAAGTCATGCTTTTCACCCTATTGATGGCTTTCTTCAGAGTCTACCTTAC
CATATATACCCTTTTATCTTTCCATTACACAAGGTGGTTTATTTAAGTCTGTACATCTTG
GTTAATATCTGGACAATTTCCATTCATGACGGTGATTTTCGTGTAAGAATGAAAAATTAT
TCAATGGAGAGTTTACAAAGACTGAATAGATTATTGCCCAGTTATTCTTAA
Enzyme 1 GenBank Gene ID D85181 Link Image
Enzyme 1 GeneCard ID SC5DL Link Image
Enzyme 1 GenAtlas ID SC5DL Link Image
Enzyme 1 HGNC ID HGNC:10547 Link Image
Enzyme 1 Chromosome Location 11
Enzyme 1 Locus 11q23.3
Enzyme 1 SNPs SNPJam Report Link Image
Enzyme 1 General References
  1. Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y: Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase. Cytogenet Cell Genet. 1996;74(4):252-4. [PubMed Link Image]
  2. Husselstein T, Schaller H, Gachotte D, Benveniste P: Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles. Plant Mol Biol. 1999 Mar;39(5):891-906. [PubMed Link Image]
  3. Nishi S, Nishino H, Ishibashi T: cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. Biochim Biophys Acta. 2000 Jan 31;1490(1-2):106-8. [PubMed Link Image]
  4. Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G: Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet. 2002 Oct;71(4):952-8. Epub 2002 Aug 20. [PubMed Link Image]
  5. Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD: Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. [PubMed Link Image]
Enzyme 1 Metabolite References Not Available
Enzyme 2 [top]
Enzyme 2 ID 5496
Enzyme 2 Name Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Enzyme 2 Synonyms
  1. H105e3 protein
Enzyme 2 Gene Name NSDHL
Enzyme 2 Protein Sequence >Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLAR
GYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRV
NYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQE
RAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA
YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAME
RTVQSFRHLRRVK
Enzyme 2 Number of Residues 373
Enzyme 2 Molecular Weight 41901
Enzyme 2 Theoretical pI 8.20
Enzyme 2 GO Classification
Function
  • 3-beta-hydroxy-delta5-steroid dehydrogenase activity
  • catalytic activity
  • intramolecular oxidoreductase activity
  • intramolecular oxidoreductase activity, transposing C=C bonds
  • isomerase activity
  • oxidoreductase activity
  • oxidoreductase activity, acting on CH-OH group of donors
  • oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
  • steroid dehydrogenase activity
  • steroid delta-isomerase activity
Process
  • cellular lipid metabolism
  • lipid metabolism
  • metabolism
  • physiological process
  • primary metabolism
  • steroid biosynthesis
  • steroid metabolism
Component
Enzyme 2 General Function Cell wall/membrane/envelope biogenesis
Enzyme 2 Specific Function 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest- 7-ene-4-alpha-carboxylate + NAD(P)(+) = 4-alpha-methyl-5-alpha- cholest-7-en-3-one + CO(2) + NAD(P)H
Enzyme 2 Pathways Not Available
Enzyme 2 Reactions
  • 3beta-hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate + NAD(P)+ = 4alpha-methyl-5alpha-cholest-7-en-3-one + CO2 + NAD(P)H
Enzyme 2 Pfam Domain Function
Enzyme 2 Signals
  • None
Enzyme 2 Transmembrane Regions
  • 298-318
Enzyme 2 Essentiality Not Available
Enzyme 2 GenBank ID Protein 4457237 Link Image
Enzyme 2 UniProtKB/Swiss-Prot ID Q15738 Link Image
Enzyme 2 UniProtKB/Swiss-Prot Entry Name NSDHL_HUMAN Link Image
Enzyme 2 PDB ID Not Available
Enzyme 2 Cellular Location Not Available
Enzyme 2 Gene Sequence >1122 bp
ATGGAACCAGCAGTTAGCGAGCCAATGAGAGACCAAGTCGCACGGACTCATTTGACAGAG
GACACTCCCAAAGTGAATGCTGACATAGAAAAGGTTAACCAGAATCAGGCCAAGAGATGC
ACAGTGATCGGTGGCTCTGGATTCCTGGGGCAGCACATGGTGGAGCAGTTGCTGGCAAGA
GGATATGCTGTCAATGTATTTGATATCCAGCAAGGGTTTGATAATCCCCAGGTGCGGTTC
TTTCTGGGTGACCTCTGCAGCCGACAGGATCTGTACCCAGCTCTGAAAGGTGTAAACACA
GTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTG
AATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTC
ATTTTAACCAGCAGTGCCAGTGTCATCTTTGAGGGCGTCGATATCAAGAATGGAACTGAA
GACCTTCCCTATGCCATGAAACCCATTGACTACTACACAGAGACTAAGATCTTACAGGAG
AGGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCT
CATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGG
AACGGCAAGATGAAGTTCGTGATTGGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTG
GAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTG
GGTGGGAAGGCATTTCACATCACCAATGATGAGCCCATCCCTTTCTGGACATTCCTGTCT
CGCATCCTGACAGGCCTCAATTATGAGGCCCCCAAGTACCACATCCCCTACTGGGTGGCC
TACTACCTGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTG
CAGCCCACCTTCACACCCATGCGGGTCGCACTGGCTGGCACATTCCACTACTACAGCTGC
GAGAGAGCCAAAAAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGCTATGGAG
AGGACCGTGCAGAGCTTTCGCCACCTGCGGAGGGTCAAGTGA
Enzyme 2 GenBank Gene ID U47105 Link Image
Enzyme 2 GeneCard ID NSDHL Link Image
Enzyme 2 GenAtlas ID NSDHL Link Image
Enzyme 2 HGNC ID HGNC:13398 Link Image
Enzyme 2 Chromosome Location X
Enzyme 2 Locus Xq28
Enzyme 2 SNPs SNPJam Report Link Image
Enzyme 2 General References
  1. Mallon AM, Platzer M, Bate R, Gloeckner G, Botcherby MR, Nordsiek G, Strivens MA, Kioschis P, Dangel A, Cunningham D, Straw RN, Weston P, Gilbert M, Fernando S, Goodall K, Hunter G, Greystrong JS, Clarke D, Kimberley C, Goerdes M, Blechschmidt K, Rump A, Hinzmann B, Mundy CR, Miller W, Poustka A, Herman GE, Rhodes M, Denny P, Rosenthal A, Brown SD: Comparative genome sequence analysis of the Bpa/Str region in mouse and Man. Genome Res. 2000 Jun;10(6):758-75. [PubMed Link Image]
  2. Levin ML, Chatterjee A, Pragliola A, Worley KC, Wehnert M, Zhuchenko O, Smith RF, Lee CC, Herman GE: A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. Genome Res. 1996 Jun;6(6):465-77. [PubMed Link Image]
  3. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH: Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000 Feb 14;90(4):339-46. [PubMed Link Image]
Enzyme 2 Metabolite References Not Available
Enzyme 3 [top]
Enzyme 3 ID 6129
Enzyme 3 Name 3-keto-steroid reductase
Enzyme 3 Synonyms
  1. Estradiol 17-beta- dehydrogenase 7
  2. 17-beta-HSD 7
  3. 17-beta-hydroxysteroid dehydrogenase 7
Enzyme 3 Gene Name HSD17B7
Enzyme 3 Protein Sequence >3-keto-steroid reductase
MRKVVLITGASSGIGLALCKRLLAEDDELHLCLACRNMSKAEAVCAALLASHPTAEVTIV
QVDVSNLQSVFRASKELKQRFQRLDCIYLNAGIMPNPQLNIKALFFGLFSRKVIHMFSTA
EGLLTQGDKITADGLQEVFETNVFGHFILIRELEPLLCHSDNPSQLIWTSSRSARKSNFS
LEDFQHSKGKEPYSSSKYATDLLSVALNRNFNQQGLYSNVACPGTALTNLTYGILPPFIW
TLLMPAILLLRFFANAFTLTPYNGTEALVWLFHQKPESLNPLIKYLSATTGFGRNYIMTQ
KMDLDEDTAEKFYQKLLELEKHIRVTIQKTDNQARLSGSCL
Enzyme 3 Number of Residues 341
Enzyme 3 Molecular Weight 38207
Enzyme 3 Theoretical pI 8.21
Enzyme 3 GO Classification
Function
  • catalytic activity
  • oxidoreductase activity
Process
  • metabolism
  • physiological process
Component
Enzyme 3 General Function Lipid transport and metabolism
Enzyme 3 Specific Function Responsible for the reduction of the keto group on the C-3 of sterols
Enzyme 3 Pathways
  • Androgen and Estrogen Metabolism (map00150 Link Image)
Enzyme 3 Reactions
  • 4alpha-methyl-5alpha-cholest-7-en-3beta-ol + NADP+ = 4alpha-methyl-5alpha-cholest-7-en-3-one + NADPH + H+
Enzyme 3 Pfam Domain Function
Enzyme 3 Signals
  • 1-19
Enzyme 3 Transmembrane Regions
  • 230-250
Enzyme 3 Essentiality Not Available
Enzyme 3 GenBank ID Protein 6721095 Link Image
Enzyme 3 UniProtKB/Swiss-Prot ID P56937 Link Image
Enzyme 3 UniProtKB/Swiss-Prot Entry Name DHB7_HUMAN Link Image
Enzyme 3 PDB ID Not Available
Enzyme 3 Cellular Location Not Available
Enzyme 3 Gene Sequence >1026 bp
ATGCGAAAGGTGGTTTTGATCACCGGGGCTAGCAGTGGCATTGGCCTGGCCCTCTGCAAG
CGGCTGCTGGCGGAAGATGATGAGCTTCATCTGTGTTTGGCGTGCAGGAACATGAGCAAG
GCAGAAGCTGTCTGTGCTGCTCTGCTGGCCTCTCACCCCACTGCTGAGGTCACCATTGTC
CAGGTGGATGTCAGCAACCTGCAGTCGGTCTTCCGGGCCTCCAAGGAACTTAAGCAAAGG
TTTCAGAGATTAGACTGTATATATCTAAATGCTGGGATCATGCCTAATCCACAACTAAAT
ATCAAAGCACTTTTCTTTGGCCTCTTTTCAAGAAAAGTGATTCATATGTTCTCCACAGCT
GAAGGCCTGCTGACCCAGGGTGATAAGATCACTGCTGATGGACTTCAGGAGGTGTTTGAG
ACCAATGTCTTTGGCCATTTTATCCTGATTCGGGAACTGGAGCCTCTCCTCTGTCACAGT
GACAATCCATCTCAGCTCATCTGGACATCATCTCGCAGTGCAAGGAAATCTAATTTCAGC
CTCGAGGACTTCCAGCACAGCAAAGGCAAGGAACCCTACAGCTCTTCCAAATATGCCACT
GACCTTTTGAGTGTGGCTTTGAACAGGAACTTCAACCAGCAGGGTCTCTATTCCAATGTG
GCCTGTCCAGGTACAGCATTGACCAATTTGACATATGGAATTCTGCCTCCGTTTATATGG
ACGCTGTTGATGCCGGCAATATTGCTACTTCGCTTTTTTGCAAATGCATTCACTTTGACA
CCATATAATGGAACAGAAGCTCTGGTATGGCTTTTCCACCAAAAGCCTGAATCTCTCAAT
CCTCTGATCAAATATCTGAGTGCCACCACTGGCTTTGGAAGAAATTATATTATGACCCAG
AAGATGGACCTAGATGAAGACACTGCTGAAAAATTTTATCAAAAGTTACTGGAACTGGAA
AAGCACATTAGGGTCACTATTCAAAAAACAGATAATCAGGCCAGGCTCAGTGGCTCATGC
CTATAA
Enzyme 3 GenBank Gene ID AF098786 Link Image
Enzyme 3 GeneCard ID HSD17B7 Link Image
Enzyme 3 GenAtlas ID HSD17B7 Link Image
Enzyme 3 HGNC ID HGNC:5215 Link Image
Enzyme 3 Chromosome Location 1
Enzyme 3 Locus 1q23
Enzyme 3 SNPs SNPJam Report Link Image
Enzyme 3 General References
  1. Krazeisen A, Breitling R, Imai K, Fritz S, Moller G, Adamski J: Determination of cDNA, gene structure and chromosomal localization of the novel human 17beta-hydroxysteroid dehydrogenase type 7(1). FEBS Lett. 1999 Oct 29;460(2):373-9. [PubMed Link Image]
  2. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15. [PubMed Link Image]
  3. Marijanovic Z, Laubner D, Moller G, Gege C, Husen B, Adamski J, Breitling R: Closing the gap: identification of human 3-ketosteroid reductase, the last unknown enzyme of mammalian cholesterol biosynthesis. Mol Endocrinol. 2003 Sep;17(9):1715-25. Epub 2003 Jun 26. [PubMed Link Image]
Enzyme 3 Metabolite References Not Available
Enzyme 4 [top]
Enzyme 4 ID 6237
Enzyme 4 Name 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Enzyme 4 Synonyms
  1. Cholestenol Delta-isomerase
  2. Delta(8-Delta(7sterol isomerase
  3. D8-D7 sterol isomerase
  4. Emopamil-binding protein
Enzyme 4 Gene Name EBP
Enzyme 4 Protein Sequence >3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT
WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC
METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG
HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
Enzyme 4 Number of Residues 230
Enzyme 4 Molecular Weight 26353
Enzyme 4 Theoretical pI 8.02
Enzyme 4 GO Classification
Function
  • catalytic activity
  • cholestenol delta-isomerase activity
  • intramolecular oxidoreductase activity
  • intramolecular oxidoreductase activity, transposing C=C bonds
  • isomerase activity
Process
  • alcohol metabolism
  • cellular metabolism
  • metabolism
  • physiological process
  • sterol metabolism
Component
  • cell
  • endoplasmic reticulum
  • integral to membrane
  • intracellular membrane-bound organelle
  • intrinsic to membrane
  • membrane
  • membrane-bound organelle
  • organelle
Enzyme 4 General Function Not Available
Enzyme 4 Specific Function Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers
Enzyme 4 Pathways
Enzyme 4 Reactions
  • 5alpha-cholest-7-en-3beta-ol = 5alpha-cholest-8-en-3beta-ol
Enzyme 4 Pfam Domain Function
Enzyme 4 Signals
  • None
Enzyme 4 Transmembrane Regions
  • 29-49 66-86 121-141 185-205
Enzyme 4 Essentiality Not Available
Enzyme 4 GenBank ID Protein 780263 Link Image
Enzyme 4 UniProtKB/Swiss-Prot ID Q15125 Link Image
Enzyme 4 UniProtKB/Swiss-Prot Entry Name EBP_HUMAN Link Image
Enzyme 4 PDB ID Not Available
Enzyme 4 Cellular Location Not Available
Enzyme 4 Gene Sequence >693 bp
ATGACTACCAACGCGGGCCCCTTGCACCCATACTGGCCTCAGCACCTAAGACTGGACAAC
TTTGTACCTAATGACCGCCCCACCTGGCATATACTGGCTGGCCTCTTCTCTGTCACAGGG
GTCTTAGTCGTGACCACATGGCTGTTGTCAGGTCGTGCTGCGGTTGTCCCATTGGGGACT
TGGCGGCGACTGTCCCTGTGCTGGTTTGCAGTGTGTGGGTTCATTCACCTGGTGATCGAG
GGCTGGTTCGTTCTCTACTACGAAGACCTGCTTGGAGACCAAGCCTTCTTATCTCAACTC
TGGAAAGAGTATGCCAAGGGAGACAGCCGATACATCCTGGGTGACAACTTCACAGTGTGC
ATGGAAACCATCACAGCTTGCCTGTGGGGACCACTCAGCCTGTGGGTGGTGATCGCCTTT
CTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGGGCCAGATCTAT
GGGGATGTGCTCTACTTCCTGACAGAGCACCGCGACGGATTCCAGCACGGAGAGCTGGGC
CACCCTCTCTACTTCTGGTTTTACTTTGTCTTCATGAATGCCCTGTGGCTGGTGCTGCCT
GGAGTCCTTGTGCTTGATGCTGTGAAGCACCTCACTCATGCCCAGAGCACGCTGGATGCC
AAGGCCACAAAAGCCAAGAGCAAGAAGAACTGA
Enzyme 4 GenBank Gene ID Z37986 Link Image
Enzyme 4 GeneCard ID EBP Link Image
Enzyme 4 GenAtlas ID EBP Link Image
Enzyme 4 HGNC ID HGNC:3133 Link Image
Enzyme 4 Chromosome Location X
Enzyme 4 Locus Xp11.23-p11.22
Enzyme 4 SNPs SNPJam Report Link Image
Enzyme 4 General References
  1. Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J, Glossmann H: Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. J Biol Chem. 1995 Mar 31;270(13):7551-7. [PubMed Link Image]
  2. Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE: Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. Nat Genet. 1999 Jul;22(3):286-90. [PubMed Link Image]
  3. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet. 1999 Jul;22(3):291-4. [PubMed Link Image]
  4. Has C, Bruckner-Tuderman L, Muller D, Floeth M, Folkers E, Donnai D, Traupe H: The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Hum Mol Genet. 2000 Aug 12;9(13):1951-5. [PubMed Link Image]
  5. Becker K, Csikos M, Horvath A, Karpati S: Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome. Exp Dermatol. 2001 Aug;10(4):286-9. [PubMed Link Image]
Enzyme 4 Metabolite References Not Available
Enzyme 5 [top]
Enzyme 5 ID 7345
Enzyme 5 Name 24-dehydrocholesterol reductase precursor
Enzyme 5 Synonyms
  1. 3-beta- hydroxysterol delta-24-reductase
  2. Seladin-1
  3. Diminuto/dwarf1 homolog
Enzyme 5 Gene Name DHCR24
Enzyme 5 Protein Sequence >24-dehydrocholesterol reductase precursor
MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKL
SSAPRLHEQRVRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMD
ILEVDTKKQIVRVEPLVTMGQVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKY
GLFQHICTAYELVLADGSFVRCTPSENSDLFYAVPWSCGTLGFLVAAEIRIIPAKKYVKL
RFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIMTGVMTDEAEPSKLNSIGNYY
KPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPIFRYLFGWMVP
PKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQ
PGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREE
FWEMFDGSLYHKLREKLGCQDAFPEVYDKICKAARH
Enzyme 5 Number of Residues 516
Enzyme 5 Molecular Weight 60102
Enzyme 5 Theoretical pI 8.24
Enzyme 5 GO Classification
Function
Process
  • cellular metabolism
  • electron transport
  • generation of precursor metabolites and energy
  • metabolism
  • physiological process
Component
Enzyme 5 General Function Energy production and conversion
Enzyme 5 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 5 Pathways Not Available
Enzyme 5 Reactions Not Available
Enzyme 5 Pfam Domain Function
Enzyme 5 Signals
  • 1-22
Enzyme 5 Transmembrane Regions
  • 32-52
Enzyme 5 Essentiality Not Available
Enzyme 5 GenBank ID Protein 10442025 Link Image
Enzyme 5 UniProtKB/Swiss-Prot ID Q15392 Link Image
Enzyme 5 UniProtKB/Swiss-Prot Entry Name DHC24_HUMAN Link Image
Enzyme 5 PDB ID Not Available
Enzyme 5 Cellular Location Not Available
Enzyme 5 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 5 GenBank Gene ID AF261758 Link Image
Enzyme 5 GeneCard ID DHCR24 Link Image
Enzyme 5 GenAtlas ID DHCR24 Link Image
Enzyme 5 HGNC ID HGNC:2859 Link Image
Enzyme 5 Chromosome Location 1
Enzyme 5 Locus 1p33-p31.1
Enzyme 5 SNPs SNPJam Report Link Image
Enzyme 5 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 5 Metabolite References Not Available
Enzyme 6 [top]
Enzyme 6 ID 15243
Enzyme 6 Name Uncharacterized protein SC4MOL
Enzyme 6 Synonyms Not Available
Enzyme 6 Gene Name SC4MOL
Enzyme 6 Protein Sequence >Uncharacterized protein SC4MOL
MPRWYFLLARCFGCAVIEDTWHYFLHRLLHHKRIYKYIHKVHHEFQAPFGMEAEYAHPLE
TLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLNPLNLIPFYAGSRHHD
FHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE
Enzyme 6 Number of Residues 162
Enzyme 6 Molecular Weight 19471
Enzyme 6 Theoretical pI 7.79
Enzyme 6 GO Classification Not Available
Enzyme 6 General Function Lipid transport and metabolism
Enzyme 6 Specific Function Not Available
Enzyme 6 Pathways Not Available
Enzyme 6 Reactions Not Available
Enzyme 6 Pfam Domain Function Not Available
Enzyme 6 Signals
  • None
Enzyme 6 Transmembrane Regions
  • None
Enzyme 6 Essentiality Not Available
Enzyme 6 GenBank ID Protein Not Available
Enzyme 6 UniProtKB/Swiss-Prot ID A8MYF6 Link Image
Enzyme 6 UniProtKB/Swiss-Prot Entry Name A8MYF6_HUMAN Link Image
Enzyme 6 PDB ID Not Available
Enzyme 6 Cellular Location Not Available
Enzyme 6 Gene Sequence Not Available
Enzyme 6 GenBank Gene ID AC012504 Link Image
Enzyme 6 GeneCard ID A8MYF6 Link Image
Enzyme 6 GenAtlas ID SC4MOL Link Image
Enzyme 6 HGNC ID HGNC:10545 Link Image
Enzyme 6 Chromosome Location Not Available
Enzyme 6 Locus Not Available
Enzyme 6 SNPs SNPJam Report Link Image
Enzyme 6 General References Not Available
Enzyme 6 Metabolite References Not Available