| 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 |
- (3beta)-Cholest-7-en-3-ol
- (3beta,5alpha)-Cholest-7-en-3-ol
- (3beta,alpha)-Cholest-7-en-3-ol
- (7)-Cholestenol
- 3b-Hydroxy-5-cholestene
- 3beta-Hydroxy-5alpha-cholest-7-ene
- 5alpha-cholest-7-en-3beta-ol
- 7-Cholesten-3-beta-ol
- 7-Cholestenol
- 7-Cholesterol
- Cholest-7-en-3-ol
- Cholest-7-en-3beta-ol
- Cholesterol - synthetic
- Cholesterol Pharma
- Cholesterol,NF Grade
- DELTA7-Cholesten-3beta-ol
- DELTA7-Cholestenol
- Lathosterol
- cholest-7-en-ol
- cholesterol extra pure
- cholesterol gr
- delta(7)-Cholestenol
- gamma-Cholestenol
- gamma-Cholesterol
- 5-alpha-cholest-7-en-3-beta-ol
- 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 |
 |
| Chemical Taxonomy |
| Kingdom |
|
| Super Class |
- Cholesterols and derivatives
|
| Class |
- Steroids and Steroid Derivatives
|
| Sub Class |
|
| Family |
|
| Species |
|
| Biofunction |
- Hormones, Membrane component
|
| Application |
| — |
| Source |
|
|
| 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  |
| BioCyc ID |
CPD-4186  |
| BiGG ID |
37036  |
| Wikipedia Link |
Not Available |
| NuGOwiki Link |
HMDB01170  |
| Metagene Link |
HMDB01170  |
| METLIN ID |
6052  |
| PubChem Compound |
65728  |
| PubChem Substance |
207761  |
| ChEBI ID |
17168  |
| 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  |
| Experimental 13C NMR Spectrum |
Not Available |
| Experimental 13C HSQC Spectrum |
Download Spectrum Download FID (Bruker) Show Experimental Conditions  |
| 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 |
|
| 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
]
|
|
| 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
]
|
| 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
]
|
|
| 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
]
|
| 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
]
|
|
| OMIM ID |
- 213700
(Cerebrotendinous xanthomatosis)
|
| Pathways |
|
| General References |
- 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
]
- 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
]
- 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
]
- 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
]
- 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
]
- 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
]
- 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
]
|
| Metabolic Enzymes |
- Lathosterol oxidase
- Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
- 3-keto-steroid reductase
- 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
- 24-dehydrocholesterol reductase precursor
- Uncharacterized protein SC4MOL
|
|
Enzyme 1
[top]
|
| Enzyme 1 ID |
5367 |
| Enzyme 1 Name |
Lathosterol oxidase |
| Enzyme 1 Synonyms |
- Lathosterol 5-desaturase
- Delta(7-sterol 5-desaturase
- C-5 sterol desaturase
- 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 |
|
| 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 |
|
| Enzyme 1 Transmembrane Regions |
- 32-52
79-99
117-137
186-206
|
| Enzyme 1 Essentiality |
Not Available |
| Enzyme 1 GenBank ID Protein |
1906796  |
| Enzyme 1 UniProtKB/Swiss-Prot ID |
O75845  |
| Enzyme 1 UniProtKB/Swiss-Prot Entry Name |
SC5D_HUMAN  |
| 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  |
| Enzyme 1 GeneCard ID |
SC5DL  |
| Enzyme 1 GenAtlas ID |
SC5DL  |
| Enzyme 1 HGNC ID |
HGNC:10547  |
| Enzyme 1 Chromosome Location |
11 |
| Enzyme 1 Locus |
11q23.3 |
| Enzyme 1 SNPs |
SNPJam Report  |
| Enzyme 1 General References |
- 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
]
- 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
]
- 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
]
- 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
]
- 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
]
|
| 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 |
- 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 |
|
| Enzyme 2 Transmembrane Regions |
|
| Enzyme 2 Essentiality |
Not Available |
| Enzyme 2 GenBank ID Protein |
4457237  |
| Enzyme 2 UniProtKB/Swiss-Prot ID |
Q15738  |
| Enzyme 2 UniProtKB/Swiss-Prot Entry Name |
NSDHL_HUMAN  |
| 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  |
| Enzyme 2 GeneCard ID |
NSDHL  |
| Enzyme 2 GenAtlas ID |
NSDHL  |
| Enzyme 2 HGNC ID |
HGNC:13398  |
| Enzyme 2 Chromosome Location |
X |
| Enzyme 2 Locus |
Xq28 |
| Enzyme 2 SNPs |
SNPJam Report  |
| Enzyme 2 General References |
- 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
]
- 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
]
- 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
]
|
| Enzyme 2 Metabolite References |
Not Available |
|
Enzyme 3
[top]
|
| Enzyme 3 ID |
6129 |
| Enzyme 3 Name |
3-keto-steroid reductase |
| Enzyme 3 Synonyms |
- Estradiol 17-beta- dehydrogenase 7
- 17-beta-HSD 7
- 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
)
|
| 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 |
|
| Enzyme 3 Transmembrane Regions |
|
| Enzyme 3 Essentiality |
Not Available |
| Enzyme 3 GenBank ID Protein |
6721095  |
| Enzyme 3 UniProtKB/Swiss-Prot ID |
P56937  |
| Enzyme 3 UniProtKB/Swiss-Prot Entry Name |
DHB7_HUMAN  |
| 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  |
| Enzyme 3 GeneCard ID |
HSD17B7  |
| Enzyme 3 GenAtlas ID |
HSD17B7  |
| Enzyme 3 HGNC ID |
HGNC:5215  |
| Enzyme 3 Chromosome Location |
1 |
| Enzyme 3 Locus |
1q23 |
| Enzyme 3 SNPs |
SNPJam Report  |
| Enzyme 3 General References |
- 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
]
- 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
]
- 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
]
|
| 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 |
- Cholestenol Delta-isomerase
- Delta(8-Delta(7sterol isomerase
- D8-D7 sterol isomerase
- 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 |
|
| Enzyme 4 Transmembrane Regions |
- 29-49
66-86
121-141
185-205
|
| Enzyme 4 Essentiality |
Not Available |
| Enzyme 4 GenBank ID Protein |
780263  |
| Enzyme 4 UniProtKB/Swiss-Prot ID |
Q15125  |
| Enzyme 4 UniProtKB/Swiss-Prot Entry Name |
EBP_HUMAN  |
| 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  |
| Enzyme 4 GeneCard ID |
EBP  |
| Enzyme 4 GenAtlas ID |
EBP  |
| Enzyme 4 HGNC ID |
HGNC:3133  |
| Enzyme 4 Chromosome Location |
X |
| Enzyme 4 Locus |
Xp11.23-p11.22 |
| Enzyme 4 SNPs |
SNPJam Report  |
| Enzyme 4 General References |
- 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
]
- 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
]
- 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
]
- 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
]
- 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
]
|
| Enzyme 4 Metabolite References |
Not Available |
|
Enzyme 5
[top]
|
| Enzyme 5 ID |
7345 |
| Enzyme 5 Name |
24-dehydrocholesterol reductase precursor |
| Enzyme 5 Synonyms |
- 3-beta- hydroxysterol delta-24-reductase
- Seladin-1
- 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 |
|
| Enzyme 5 Transmembrane Regions |
|
| Enzyme 5 Essentiality |
Not Available |
| Enzyme 5 GenBank ID Protein |
10442025  |
| Enzyme 5 UniProtKB/Swiss-Prot ID |
Q15392  |
| Enzyme 5 UniProtKB/Swiss-Prot Entry Name |
DHC24_HUMAN  |
| 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  |
| Enzyme 5 GeneCard ID |
DHCR24  |
| Enzyme 5 GenAtlas ID |
DHCR24  |
| Enzyme 5 HGNC ID |
HGNC:2859  |
| Enzyme 5 Chromosome Location |
1 |
| Enzyme 5 Locus |
1p33-p31.1 |
| Enzyme 5 SNPs |
SNPJam Report  |
| Enzyme 5 General References |
- 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
]
- 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
]
- 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
]
|
| 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 |
|
| Enzyme 6 Transmembrane Regions |
|
| Enzyme 6 Essentiality |
Not Available |
| Enzyme 6 GenBank ID Protein |
Not Available |
| Enzyme 6 UniProtKB/Swiss-Prot ID |
A8MYF6  |
| Enzyme 6 UniProtKB/Swiss-Prot Entry Name |
A8MYF6_HUMAN  |
| Enzyme 6 PDB ID |
Not Available |
| Enzyme 6 Cellular Location |
Not Available |
| Enzyme 6 Gene Sequence |
Not Available |
| Enzyme 6 GenBank Gene ID |
AC012504  |
| Enzyme 6 GeneCard ID |
A8MYF6  |
| Enzyme 6 GenAtlas ID |
SC4MOL  |
| Enzyme 6 HGNC ID |
HGNC:10545  |
| Enzyme 6 Chromosome Location |
Not Available |
| Enzyme 6 Locus |
Not Available |
| Enzyme 6 SNPs |
SNPJam Report  |
| Enzyme 6 General References |
Not Available |
| Enzyme 6 Metabolite References |
Not Available |