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Human Metabolome Database Version 2.5

 

Showing metabocard for Pregnenolone (HMDB00253)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2005-11-16 15:48:42
Update Date 2010-04-08 13:01:04
Accession Number HMDB00253
Secondary Accession Numbers Not Available
Common Name Pregnenolone
Description Pregnenolone is a derivative of cholesterol, the product of Cytochrome P450 side-chain cleavage (EC 1.14.15.6, CYP11A1); this reaction consists of three consecutive monooxygenations; a 22-hydroxylation, 20-hydroxylation and the cleavage of the C20-C22 bond, yielding pregnenolone. Pregnenolone is the precursor to gonadal steroid hormones and the adrenal corticosteroids. This reaction occurs in steroid hormone-producing tissues such as the adrenal cortex, corpus luteum and placenta. The most notable difference between the placenta and other steroidogenic tissues is that electron supply to CYP11A1 limits the rate at which cholesterol is converted to pregnenolone in the placenta. The limiting component for electron delivery to CYP11A1 is the concentration of adrenodoxin reductase in the mitochondrial matrix which is insufficient to maintain the adrenodoxin pool in a fully reduced state. Pregnenolone is also a neurosteroid, and is produced in the spinal cord; CYP11A1 is the key enzyme catalyzing the conversion of cholesterol into pregnenolone, the rate-limiting step in the biosynthesis of all classes of steroids, and has been localized in sensory networks of the spinal cord dorsal horn. In the adrenal glomerulosa cell angiotensin II, one of the major physiological regulators of mineralocorticoid synthesis, appears to affect most of the cholesterol transfer to the mitochondrial outer membrane and transport to the inner membrane steps and thus to exerts a powerful control over the use of cholesterol for aldosterone production. (PMID: 17222962, 15823613, 16632873, 15134809)
Synonyms
  1. Skinostelon
  2. Prenolon
  3. 5-Pregnen-3beta-ol-20-one
  4. 5-Pregnen-3b-ol-20-one
  5. Pregnolon
  6. Pregnetan
  7. Regnosone
  8. 3beta-Hydroxypregn-5-en-20-one
  9. Pregneton
  10. 3b-Hydroxypregn-5-en-20-one
  11. (3b)-3-hydroxy-Pregn-5-en-20-one
  12. 3-hydroxypregn-5-en-20-one
  13. Natolone
  14. Pregn-5-en-3b-ol-20-one
  15. Pregn-5-ene-3b-ol-20-one
Chemical IUPAC Name 1-[(3S,8S,9S,10R,13S,17S)-3-hydroxy-10,13-dimethyl-2,3,4,7,8,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-17-yl]ethanone
Chemical Formula C21H32O2
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Cholesterols and derivatives
Class
  • Steroids and Steroid Derivatives
Sub Class
  • Ketosteroids
Family
  • Mammalian Metabolite
Species
  • ketone
  • secondary alcohol
  • alkene
Biofunction
  • Component of C21-Steroid hormone metabolism
Application
—
Source
  • Endogenous
Average Molecular Weight 316.478
Monoisotopic Molecular Weight 316.240234
Isomeric SMILES CC(=O)[C@H]1CC[C@H]2C3CC=C4C[C@H](O)CC[C@]4(C)[C@H]3CC[C@]12C
Canonical SMILES CC(=O)C1CCC2C3CC=C4CC(O)CCC4(C)C3CCC12C
KEGG Compound ID C01953 Link Image
BioCyc ID PREGNENOLONE Link Image
BiGG ID 38769 Link Image
Wikipedia Link Pregnenolone Link Image
NuGOwiki Link HMDB00253 Link Image
Metagene Link HMDB00253 Link Image
METLIN ID 5257 Link Image
PubChem Compound 439611 Link Image
PubChem Substance 5056 Link Image
ChEBI ID 16581 Link Image
CAS Registry Number 145-13-1
InChI Identifier InChI=1/C21H32O2/c1-13(22)17-6-7-18-16-5-4-14-12-15(23)8-10-20(14,2)19(16)9-11-21(17,18)3/h4,15-19,23H,5-12H2,1-3H3/t15-,16+,17-,18+,19+,20+,21-/m1/s1
Synthesis Reference Shingate, Bapurao B.; Hazra, Braja G.; Pore, Vandana S.; Gonnade, Rajesh G.; Bhadbhade, Mohan M. Stereoselective syntheses of 20-epi cholanic acid derivatives from 16-dehydropregnenolone acetate. Tetrahedron (2007), 63(25), 5622-5635.
Melting Point (Experimental) 192
Experimental Water Solubility 0.00706 mg/mL at 37 oC [YALKOWSKY,SH & DANNENFELSER,RM (1992)] Source: PhysProp
Predicted Water Solubility 0.0136 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge 0
State Solid
Experimental LogP/Hydrophobicity 4.22 [HANSCH,C ET AL. (1995)] Source: PhysProp
Predicted LogP/Hydrophobicity 4.06 [Predicted by ALOGPS]; 3.6 [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 (Varian)
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
Low Energy
Download File
Show Experimental Conditions Link Image
Medium Energy
Download File
Show Experimental Conditions Link Image
High Energy
Download File
Show Experimental Conditions Link Image
Simplified TOCSY Spectrum Not Available
BMRB Spectrum Not Available
Cellular Location
  • Membrane (Predicted from LogP)
  • Cytoplasm
  • endoplasmic reticulum
  • mitochondria
Biofluid Location
  • Blood
  • Cerebrospinal Fluid
Tissue Location
Tissue References
Adrenal Cortex —
Adrenal Gland —
Brain —
Gonads —
Kidney —
Myelin —
Nerve Cells —
Neuron —
Placenta —
Testes —
Concentrations (Normal)
Biofluid Blood
Value 0.00186 +/- 0.00090 uM
Age Adult:>18 yrs old
Sex Female
Patient information Menstrual cycle (follicular phase)
Comments Not Available
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.00083 +/- 0.00080 uM
Age Adult:>18 yrs old
Sex Both
Patient information Menstrual cycle (follicular stage)
Comments Not Available
References
  • Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed Link Image]
Biofluid Blood
Value 0.00424 +/- 0.00236 uM
Age Adult:>18 yrs old
Sex Female
Patient information Menstrual cycle (luteal phase)
Comments Not Available
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.0147 +/- 0.0084 uM
Age Adult:>18 yrs old
Sex Female
Patient information Prepartum
Comments n=12, 12-19 weeks pregnant
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.0429 +/- 0.0325 uM
Age Adult:>18 yrs old
Sex Female
Patient information Prepartum
Comments n=12, 26-28 weeks pregnant
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.0573 +/- 0.0133 uM
Age Adult:>18 yrs old
Sex Female
Patient information Prepartum
Comments n=9, 36-38 weeks pregnant
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.00985 +/- 0.00851 uM
Age Adult:>18 yrs old
Sex Female
Patient information Postpartum
Comments n=11, 2-7 days postpartum
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.00373 +/- 0.00214 uM
Age Adult:>18 yrs old
Sex Female
Patient information Postpartum
Comments n=11, 13-18 days postpartum
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.00168 +/- 0.00137 uM
Age Adult:>18 yrs old
Sex Female
Patient information Postpartum
Comments n=5, 43-58 days postpartum
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.00088 +/- 0.00062 uM
Age Adult:>18 yrs old
Sex Female
Patient information Menstrual cycle (mid luteal stage)
Comments Not Available
References
  • Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed Link Image]
Biofluid Blood
Value 0.00054 +/- 0.00033 uM
Age Adult:>18 yrs old
Sex Female
Patient information Menstrual cycle (late luteal stage)
Comments Not Available
References
  • Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed Link Image]
Biofluid Blood
Value 0.013 +/- 0.0027 uM
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • Kim YS, Zhang H, Kim HY: Profiling neurosteroids in cerebrospinal fluids and plasma by gas chromatography/electron capture negative chemical ionization mass spectrometry. Anal Biochem. 2000 Jan 15;277(2):187-95. [PubMed Link Image]
Biofluid CSF
Value 0.00013 (0.000082-0.00019) uM
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • Kim YS, Zhang H, Kim HY: Profiling neurosteroids in cerebrospinal fluids and plasma by gas chromatography/electron capture negative chemical ionization mass spectrometry. Anal Biochem. 2000 Jan 15;277(2):187-95. [PubMed Link Image]
Concentrations (Abnormal)
Biofluid Blood
Value 0.00082 +/- 0.00071 uM
Age Adult:>18 yrs old
Sex Female
Condition Premenstrual dysphoric disorder
Comments Not Available
References
  • Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed Link Image]
Biofluid Blood
Value 0.0423 +/- 0.0130 uM
Age Adult:>18 yrs old
Sex Female
Condition Prepartum depression
Comments n=9, 26-28 weeks pregnant with depression
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.0684 +/- 0.0222 uM
Age Adult:>18 yrs old
Sex Female
Condition Prepartum depression
Comments n=6, 36-38 weeks pregnant with depression
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.00974 +/- 0.00371 uM
Age Adult:>18 yrs old
Sex Female
Condition Postpartum depression
Comments n=5, 2-7 days postpartum with symptoms of the "blues"
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.00209 +/- 0.00090 uM
Age Adult:>18 yrs old
Sex Female
Condition Postpartum depression
Comments n=5, 13-18 days postpartum with depression
References
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Biofluid Blood
Value 0.00179 +/- 0.00108 uM
Age Adult:>18 yrs old
Sex Female
Condition Premenstrual dysphoric disorder
Comments Not Available
References
  • Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed Link Image]
Biofluid Blood
Value 0.00169 +/- 0.00107 uM
Age Adult:>18 yrs old
Sex Female
Condition Premenstrual dysphoric disorder
Comments Not Available
References
  • Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed Link Image]
Associated Disorders
Condition References
Postpartum depression
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
Premenstrual dysphoric disorder
  • Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed Link Image]
Prepartum depression
  • Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
OMIM ID Not Available
Pathways
Name SMPDB Link KEGG Link
Steroidogenesis SMP00130 Link Image map00140 Link Image
General References
  1. Schoneshofer M, Weber B: Specific estimation of fifteen unconjugated, non-metabolized steroid hormones in human urine. J Steroid Biochem. 1983 Jan;18(1):65-73. [PubMed Link Image]
  2. Morfin R, Young J, Corpechot C, Egestad B, Sjovall J, Baulieu EE: Neurosteroids: pregnenolone in human sciatic nerves. Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):6790-3. [PubMed Link Image]
  3. Kim YS, Zhang H, Kim HY: Profiling neurosteroids in cerebrospinal fluids and plasma by gas chromatography/electron capture negative chemical ionization mass spectrometry. Anal Biochem. 2000 Jan 15;277(2):187-95. [PubMed Link Image]
  4. Eriksson CJ, Widenius TV, Leinonen P, Harkonen M, Ylikahri RH: Inhibition of testosterone biosynthesis by ethanol: relation to the pregnenolone-to-testosterone pathway. FEBS Lett. 1984 Jul 9;172(2):177-82. [PubMed Link Image]
  5. George MS, Guidotti A, Rubinow D, Pan B, Mikalauskas K, Post RM: CSF neuroactive steroids in affective disorders: pregnenolone, progesterone, and DBI. Biol Psychiatry. 1994 May 15;35(10):775-80. [PubMed Link Image]
  6. Hill M, Lukac D, Lapcik O, Sulcova J, Hampl R, Pouzar V, Starka L: Age relationships and sex differences in serum levels of pregnenolone and 17-hydroxypregnenolone in healthy subjects. Clin Chem Lab Med. 1999 Apr;37(4):439-47. [PubMed Link Image]
  7. Diallo S, Lecanu L, Greeson J, Papadopoulos V: A capillary gas chromatography/mass spectrometric method for the quantification of hydroxysteroids in human plasma. Anal Biochem. 2004 Jan 1;324(1):123-30. [PubMed Link Image]
  8. Saenger P, Klonari Z, Black SM, Compagnone N, Mellon SH, Fleischer A, Abrams CA, Shackelton CH, Miller WL: Prenatal diagnosis of congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab. 1995 Jan;80(1):200-5. [PubMed Link Image]
  9. Meloun M, Hill M, Militky J, Kupka K: Analysis of large and small samples of biochemical and clinical data. Clin Chem Lab Med. 2001 Jan;39(1):53-61. [PubMed Link Image]
  10. Lykkesfeldt G, Nielsen MD, Lykkesfeldt AE: Placental steroid sulfatase deficiency: biochemical diagnosis and clinical review. Obstet Gynecol. 1984 Jul;64(1):49-54. [PubMed Link Image]
  11. Hill M, Havlikova H, Vrbikova J, Kancheva R, Kancheva L, Pouzar V, Cerny I, Starka L: The identification and simultaneous quantification of 7-hydroxylated metabolites of pregnenolone, dehydroepiandrosterone, 3beta,17beta-androstenediol, and testosterone in human serum using gas chromatography-mass spectrometry. J Steroid Biochem Mol Biol. 2005 Jul;96(2):187-200. [PubMed Link Image]
  12. Weusten JJ, Smals AG, Hofman JA, Kloppenborg PW, Benraad TJ: Early time sequence in pregnenolone metabolism to testosterone in homogenates of human and rat testis. Endocrinology. 1987 May;120(5):1909-13. [PubMed Link Image]
  13. Doouss TW, Skinner SJ, Couch RA: Synthesis of dehydroepiandrosterone and dehydroepiandrosterone sulphate by the human adrenal. J Endocrinol. 1975 Jul;66(1):1-12. [PubMed Link Image]
  14. Nishida S, Matsumura S, Horino M, Matsuki M, Oyama H, Tenku A, Kakita K, Tanaka H, Omukai Y: Dexamethasone suppressibility of plasma pregnenolone or dehydroepiandrosterone in gonadectomized patients. Steroids. 1979 Oct;34(4):471-6. [PubMed Link Image]
  15. Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed Link Image]
  16. Ahboucha S, Pomier-Layrargues G, Mamer O, Butterworth RF: Increased levels of pregnenolone and its neuroactive metabolite allopregnanolone in autopsied brain tissue from cirrhotic patients who died in hepatic coma. Neurochem Int. 2006 Sep;49(4):372-8. Epub 2006 Mar 24. [PubMed Link Image]
  17. Wikipedia Link Image
Metabolic Enzymes
  1. 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I
  2. Cytochrome P450 11A1, mitochondrial precursor
  3. Cytochrome P450 17A1
  4. cDNA FLJ75712, highly similar to Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
  5. cDNA FLJ76435, highly similar to Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1
  6. Cytochrome P450 21-hydroxylase
  7. HSD3B2 protein
  8. Cytochrome P450, family 21, subfamily A, polypeptide 2
Enzyme 1 [top]
Enzyme 1 ID 5738
Enzyme 1 Name 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I
Enzyme 1 Synonyms
  1. 3- beta-HSD I
  2. Trophoblast antigen FDO161G[Includes: 3-beta-hydroxy- Delta(5-steroid dehydrogenase
  3. 3-beta-hydroxy-5-ene steroid dehydrogenase
  4. Progesterone reductase
  5. Steroid Delta- isomerase
  6. Delta-5-3-ketosteroid isomerase]
Enzyme 1 Gene Name HSD3B1
Enzyme 1 Protein Sequence >4-isomerase type I 
MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLE
GDILDEPFLKRACQDVSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVF
IYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPAPYPHSKKLAEKAVLAANGWNLKNGGTL
YTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRAL
QDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLDSRWSFPLSLMYWIGFLLEI
VSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSL
VDRHKETLKSKTQ
Enzyme 1 Number of Residues 373
Enzyme 1 Molecular Weight 42252
Enzyme 1 Theoretical pI 8.98
Enzyme 1 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 1 General Function Cell wall/membrane/envelope biogenesis
Enzyme 1 Specific Function 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids
Enzyme 1 Pathways
Enzyme 1 Reactions
  • A 3-oxo-delta5-steroid = a 3-oxo-delta4-steroid
Enzyme 1 Pfam Domain Function
Enzyme 1 Signals
  • 1-13
Enzyme 1 Transmembrane Regions
  • 288-308
Enzyme 1 Essentiality Not Available
Enzyme 1 GenBank ID Protein 306889 Link Image
Enzyme 1 UniProtKB/Swiss-Prot ID P14060 Link Image
Enzyme 1 UniProtKB/Swiss-Prot Entry Name 3BHS1_HUMAN Link Image
Enzyme 1 PDB ID Not Available
Enzyme 1 Cellular Location Not Available
Enzyme 1 Gene Sequence >1122 bp 
ATGACGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGTTTCTGGGACAGAGGATCATC
CGCCTCTTGGTGAAGGAGAAGGAGCTGAAGGAGATCAGGGTCTTGGACAAGGCCTTCGGA
CCAGAATTGAGAGAGGAATTTTCTAAACTCCAGAACAAGACCAAGCTGACAGTGCTGGAA
GGAGACATTCTGGATGAGCCATTCCTGAAGAGAGCCTGCCAGGACGTCTCGGTCATCATC
CACACCGCCTGTATCATTGATGTCTTCGGTGTCACTCACAGAGAGTCTATCATGAATGTC
AATGTGAAAGGTACCCAGCTCCTGTTAGAGGCCTGTGTCCAAGCTAGTGTGCCAGTCTTC
ATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAAT
GGCCATGAAGAAGAGCCTCTGGAAAACACATGGCCCGCTCCATACCCACACAGCAAAAAG
CTTGCTGAGAAGGCTGTACTGGCGGCTAACGGGTGGAATCTGAAAAACGGCGGCACCCTG
TACACTTGTGCCTTACGACCCATGTATATCTATGGGGAAGGAAGCCGATTCCTTTCTGCT
AGTATAAACGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCCACT
GTTAACCCAGTCTATGTTGGCAATGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCCCTG
CAGGACCCCAAGAAGGCCCCAAGCATCCGAGGACAGTTCTACTATATCTCAGATGACACG
CCTCACCAAAGCTATGATAACCTTAATTACACCCTGAGCAAAGAGTTCGGCCTCCGCCTT
GATTCCAGATGGAGCTTTCCTTTATCCCTGATGTATTGGATTGGCTTCCTGCTGGAAATA
GTGAGCTTCCTACTCAGGCCAATTTACACCTATCGACCGCCCTTCAACCGCCACATAGTC
ACATTGTCAAATAGCGTATTCACCTTCTCTTATAAGAAGGCTCAGCGAGATCTGGCGTAT
AAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACGGTGGAGTGGGTTGGTTCCCTT
GTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGA
Enzyme 1 GenBank Gene ID M27137 Link Image
Enzyme 1 GeneCard ID HSD3B1 Link Image
Enzyme 1 GenAtlas ID HSD3B1 Link Image
Enzyme 1 HGNC ID HGNC:5217 Link Image
Enzyme 1 Chromosome Location Not Available
Enzyme 1 Locus Not Available
Enzyme 1 SNPs SNPJam Report Link Image
Enzyme 1 General References
  1. Luu The V, Lachance Y, Labrie C, Leblanc G, Thomas JL, Strickler RC, Labrie F: Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase. Mol Endocrinol. 1989 Aug;3(8):1310-2. [PubMed Link Image]
  2. Lorence MC, Murry BA, Trant JM, Mason JI: Human 3 beta-hydroxysteroid dehydrogenase/delta 5----4isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids. Endocrinology. 1990 May;126(5):2493-8. [PubMed Link Image]
  3. Lorence MC, Corbin CJ, Kamimura N, Mahendroo MS, Mason JI: Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase. Mol Endocrinol. 1990 Dec;4(12):1850-5. [PubMed Link Image]
  4. Lachance Y, Luu-The V, Labrie C, Simard J, Dumont M, de Launoit Y, Guerin S, Leblanc G, Labrie F: Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells. J Biol Chem. 1990 Nov 25;265(33):20469-75. [PubMed Link Image]
  5. Nickson DA, McBride MW, Zeinali S, Hawes CS, Petropoulos A, Mueller UW, Sutcliffe RG: Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase. J Reprod Fertil. 1991 Sep;93(1):149-56. [PubMed Link Image]
  6. Dumont M, Luu-The V, Dupont E, Pelletier G, Labrie F: Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin. J Invest Dermatol. 1992 Oct;99(4):415-21. [PubMed Link Image]
  7. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed Link Image]
Enzyme 1 Metabolite References Not Available
Enzyme 2 [top]
Enzyme 2 ID 5998
Enzyme 2 Name Cytochrome P450 11A1, mitochondrial precursor
Enzyme 2 Synonyms
  1. CYPXIA1
  2. P450(scc
  3. Cholesterol side-chain cleavage enzyme
  4. Cholesterol desmolase
Enzyme 2 Gene Name CYP11A1
Enzyme 2 Protein Sequence >Cytochrome P450 11A1, mitochondrial precursor 
MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWL
NLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPER
FLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVS
VLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQM
FHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRG
ILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAAR
HQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIY
ALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINML
ENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ
Enzyme 2 Number of Residues 521
Enzyme 2 Molecular Weight 60103
Enzyme 2 Theoretical pI 9.18
Enzyme 2 GO Classification Not Available
Enzyme 2 General Function Secondary metabolites biosynthesis, transport and catabolism
Enzyme 2 Specific Function Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone
Enzyme 2 Pathways
Enzyme 2 Reactions
  • cholesterol + reduced adrenal ferredoxin + O2 = pregnenolone + 4-methylpentanal + oxidized adrenal ferredoxin + H2O
Enzyme 2 Pfam Domain Function Not Available
Enzyme 2 Signals
  • None
Enzyme 2 Transmembrane Regions
  • None
Enzyme 2 Essentiality Not Available
Enzyme 2 GenBank ID Protein 181376 Link Image
Enzyme 2 UniProtKB/Swiss-Prot ID P05108 Link Image
Enzyme 2 UniProtKB/Swiss-Prot Entry Name CP11A_HUMAN Link Image
Enzyme 2 PDB ID Not Available
Enzyme 2 Cellular Location Not Available
Enzyme 2 Gene Sequence >1566 bp 
ATGCTGGCCAAGGGTCTTCCCCCACGCTCAGTCCTGGTCAAAGGCTACCAGACCTTTCTG
AGTGCCCCCAGGGAGGGGCTGGGGCGTCTCAGGGTGCCCACTGGCGAGGGAGCTGGCATC
TCCACCCGCAGTCCTCGCCCCTTCAATGAGATCCCCTCTCCTGGTGACAATGGCTGGCTA
AACCTGTACCATTTCTGGAGGGAGACGGGCACACACAAAGTCCACCTTCACCATGTCCAG
AATTTCCAGAAGTATGGCCCGATTTACAGGGAGAAGCTCGGCAACGTGGAGTCGGTTTAT
GTCATCGACCCTGAAGATGTGGCCCTTCTCTTTAAGTCCGAGGGCCCCAACCCAGAACGA
TTCCTCATCCCGCCCTGGGTCGCCTATCACCAGTATTACCAGAGACCCATAGGAGTCCTG
TTGAAGAAGTCGGCAGCCTGGAAGAAAGACCGGGTGGCCCTGAACCAGGAGGTGATGGCT
CCAGAGGCCACCAAGAACTTTTTGCCCCTGTTGGATGCAGTGTCTCGGGACTTCGTCAGT
GTCCTGCACAGGCGCATCAAGAAGGCGGGCTCCGGAAATTACTCGGGGGACATCAGTGAT
GACCTGTTCCGCTTTGCCTTTGAGTCCATCACTAACGTCATTTTTGGGGAGCGCCAGGGG
ATGCTGGAGGAAGTAGTGAACCCCGAGGCCCAGCGATTCATTGATGCCATCTACCAGATG
TTCCACACCAGCGTCCCCATGCTCAACCTTCCCCCAGACCTGTTCCGTCTGTTCAGGACC
AAGACCTGGAAGGACCATGTGGCTGCATGGGACGTGATTTTCAGTAAAGCTGACATATAC
ACCCAGAACTTCTACTGGGAATTGAGACAGAAAGGAAGTGTTCACCACGATTACCGTGGC
ATGCTCTACAGACTCCTGGGAGACAGCAAGATGTCCTTCGAGGACATCAAGGCCAACGTC
ACAGAGATGCTGGCAGGAGGGGTGGACACGACGTCCATGACCCTGCAGTGGCACTTGTAT
GAGATGGCACGCAACCTGAAGGTGCAGGATATGCTGCGGGCAGAGGTCTTGGCTGCGCGG
CACCAGGCCCAGGGAGACATGGCCACGATGCTACAGCTGGTCCCCCTCCTCAAAGCCAGC
ATCAAGGAGACACTAAGACTTCACCCCATCTCCGTGACCCTGCAGAGATATCTTGTAAAT
GACTTGGTTCTTCGAGATTACATGATTCCTGCCAAGACACTGGTGCAAGTGGCCATCTAT
GCTCTGGGCCGAGAGCCCACCTTCTTCTTCGACCCGGAAAATTTTGACCCAACCCGATGG
CTGAGCAAAGACAAGAACATCACCTACTTCCGGAACTTGGGCTTTGGCTGGGGTGTGCGG
CAGTGTCTGGGACGGCGGATCGCTGAGCTAGAGATGACCATCTTCCTCATCAATATGCTG
GAGAACTTCAGAGTTGAAATCCAACACCTCAGCGATGTGGGCACCACATTCAACCTCATT
CTGATGCCTGAAAAGCCCATCTCCTTCACCTTCTGGCCCTTTAACCAGGAAGCAACCCAG
CAGTGA
Enzyme 2 GenBank Gene ID M14565 Link Image
Enzyme 2 GeneCard ID CYP11A1 Link Image
Enzyme 2 GenAtlas ID CYP11A1 Link Image
Enzyme 2 HGNC ID HGNC:2590 Link Image
Enzyme 2 Chromosome Location 15
Enzyme 2 Locus 15q23-q24
Enzyme 2 SNPs SNPJam Report Link Image
Enzyme 2 General References
  1. Chung BC, Matteson KJ, Voutilainen R, Mohandas TK, Miller WL: Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta. Proc Natl Acad Sci U S A. 1986 Dec;83(23):8962-6. [PubMed Link Image]
  2. Morohashi K, Sogawa K, Omura T, Fujii-Kuriyama Y: Gene structure of human cytochrome P-450(SCC), cholesterol desmolase. J Biochem (Tokyo). 1987 Apr;101(4):879-87. [PubMed Link Image]
  3. Hu MC, Guo IC, Lin JH, Chung BC: Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein. Biochem J. 1991 Mar 15;274 ( Pt 3):813-7. [PubMed Link Image]
  4. Matteson KJ, Chung BC, Urdea MS, Miller WL: Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes. Endocrinology. 1986 Apr;118(4):1296-305. [PubMed Link Image]
  5. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed Link Image]
  6. Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL: Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab. 2001 Aug;86(8):3820-5. [PubMed Link Image]
  7. Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T: Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. J Clin Endocrinol Metab. 2002 Aug;87(8):3808-13. [PubMed Link Image]
Enzyme 2 Metabolite References Not Available
Enzyme 3 [top]
Enzyme 3 ID 6332
Enzyme 3 Name Cytochrome P450 17A1
Enzyme 3 Synonyms
  1. CYPXVII
  2. P450-C17
  3. P450c17
  4. Steroid 17-alpha-monooxygenase
  5. Steroid 17-alpha-hydroxylase/17,20 lyase
Enzyme 3 Gene Name CYP17A1
Enzyme 3 Protein Sequence >Cytochrome P450 17A1 
MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKY
GPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAH
WQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVIS
LICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRN
DLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIF
GAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREV
LRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNP
AGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIP
KVVFLIDSFKVKIKVRQAWREAQAEGST
Enzyme 3 Number of Residues 508
Enzyme 3 Molecular Weight 57371
Enzyme 3 Theoretical pI 8.87
Enzyme 3 GO Classification
Function
  • binding
  • catalytic activity
  • cation binding
  • heme binding
  • ion binding
  • iron ion binding
  • monooxygenase activity
  • oxidoreductase activity
  • tetrapyrrole binding
  • transition metal ion binding
Process
  • cellular metabolism
  • electron transport
  • generation of precursor metabolites and energy
  • metabolism
  • physiological process
Component
—
Enzyme 3 General Function Secondary metabolites biosynthesis, transport and catabolism
Enzyme 3 Specific Function Conversion of pregnenolone and progesterone to their 17- alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty
Enzyme 3 Pathways
Enzyme 3 Reactions
  • a steroid + AH2 + O2 = a 17alpha-hydroxysteroid + A + H2O
Enzyme 3 Pfam Domain Function
Enzyme 3 Signals
  • 1-24
Enzyme 3 Transmembrane Regions Not Available
Enzyme 3 Essentiality Not Available
Enzyme 3 GenBank ID Protein 181342 Link Image
Enzyme 3 UniProtKB/Swiss-Prot ID P05093 Link Image
Enzyme 3 UniProtKB/Swiss-Prot Entry Name CP17A_HUMAN Link Image
Enzyme 3 PDB ID Not Available
Enzyme 3 Cellular Location Not Available
Enzyme 3 Gene Sequence >1527 bp 
ATGTGGGAGCTCGTGGCTCTCTTGCTGCTTACCCTAGCTTATTTGTTTTGGCCCAAGAGA
AGGTGCCCTGGTGCCAAGTACCCCAAGAGCCTCCTGTCCCTGCCCCTGGTGGGCAGCCTG
CCATTCCTCCCCAGACATGGCCATATGCATAACAACTTCTTCAAGCTGCAGAAAAAATAT
GGCCCCATCTATTCTGTTCGTATGGGCACCAAGACTACAGTGATTGTCGGCCACCACCAG
CTGGCCAAGGAGGTGCTTATTAAGAAGGGCAAGGACTTCTCTGGGCGGCCTCAAATGGCA
ACTCTAGACATCGCGTCCAACAACCGTAAGGGTATCGCCTTCGCTGACTCTGGCGCACAC
TGGCAGCTGCATCGAAGGCTGGCGATGGCCACCTTTGCCCTGTTCAAGGATGGCGATCAG
AAGCTGGAGAAGATCATTTGTCAGGAAATCAGTACATTGTGTGATATGCTGGCCACCCAC
AACGGACAGTCCATAGACATCTCCTTTCCTGTCTTCGTGGCGGTAACCAATGTCATCTCC
TTGATCTGCTTCAATACCTCCTACAAGAATGGGGACCCTGAGTTGAATGTCATACAGAAT
TACAATGAAGGCATCATAGACAACCTGAGCAAAGACAGCCTGGTGGACCTAGTCCCCTGG
TTGAAGATTTTCCCCAACAAAACCCTGGAAAAATTAAAGAGCCATGTTAAAATACGAAAT
GATCTGCTGAATAAAATACTTGAAAATTACAAGGAGAAATTCCGGAGTGACTCTATCACC
AACATGCTGGACACACTGATGCAAGCCAAGATGAACTCAGATAATGGCAATGCTGGCCCA
GATCAAGATTCAGAGCTGCTTTCAGATAACCACATTCTCACCACCATAGGGGACATCTTT
GGGGCTGGCGTGGAGACCACCACCTCTGTGGTTAAATGGACCCTGGCCTTCCTGCTGCAC
AATCCTCAGGTGAAGAAGAAGCTCTACGAGGAGATTGACCAGAATGTGGGTTTCAGCCGC
ACACCAACTATCAGTGACCGTAACCGTCTCCTCCTGCTGGAGGCCACCATCCGAGAGGTG
CTTCGCCTCAGGCCCGTGGCCCCTATGCTCATCCCCCACAAGGCCAACGTTGACTCCAGC
ATCGGTGAGTTTGCTGTGGACAAGGGCACAGAAGTTATCATCAATCTGTGGGCGCTGCAT
CACAATGAGAAGGAGTGGCACCAGCCGGATCAGTTCATGCCTGAGCGTTTCTTGAATCCA
GCGGGGACCCAGCTCATCTCACCGTCAGTAAGCTATTTGCCCTTCGGAGCAGGACCTCGC
TCCTGTATAGGTGAGATCCTGGCCCGCCAGGAGCTCTTCCTCATCATGGCCTGGCTGCTG
CAGAGGTTCGACCTGGAGGTGCCAGATGATGGGCAGCTGCCCTCCCTGGAAGGCATCCCC
AAGGTGGTCTTTCTGATCGACTCTTTCAAAGTGAAGATCAAGGTGCGCCAGGCCTGGAGG
GAAGCCCAGGCTGAGGGTAGCACCTAA
Enzyme 3 GenBank Gene ID M14564 Link Image
Enzyme 3 GeneCard ID CYP17A1 Link Image
Enzyme 3 GenAtlas ID CYP17A1 Link Image
Enzyme 3 HGNC ID HGNC:2593 Link Image
Enzyme 3 Chromosome Location 10
Enzyme 3 Locus 10q24.3
Enzyme 3 SNPs SNPJam Report Link Image
Enzyme 3 General References
  1. Chung BC, Picado-Leonard J, Haniu M, Bienkowski M, Hall PF, Shively JE, Miller WL: Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc Natl Acad Sci U S A. 1987 Jan;84(2):407-11. [PubMed Link Image]
  2. Picado-Leonard J, Miller WL: Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21. DNA. 1987 Oct;6(5):439-48. [PubMed Link Image]
  3. Bradshaw KD, Waterman MR, Couch RT, Simpson ER, Zuber MX: Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency. Mol Endocrinol. 1987 May;1(5):348-54. [PubMed Link Image]
  4. Brentano ST, Picado-Leonard J, Mellon SH, Moore CC, Miller WL: Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells. Mol Endocrinol. 1990 Dec;4(12):1972-9. [PubMed Link Image]
  5. Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR: Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency. Mol Endocrinol. 1988 Jun;2(6):564-70. [PubMed Link Image]
  6. Auchus RJ, Miller WL: Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations. Mol Endocrinol. 1999 Jul;13(7):1169-82. [PubMed Link Image]
  7. Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR: Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. J Biol Chem. 1989 Oct 25;264(30):18076-82. [PubMed Link Image]
  8. Lin D, Harikrishna JA, Moore CC, Jones KL, Miller WL: Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency. J Biol Chem. 1991 Aug 25;266(24):15992-8. [PubMed Link Image]
  9. Yanase T, Waterman MR, Zachmann M, Winter JS, Simpson ER, Kagimoto M: Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency. Biochim Biophys Acta. 1992 Aug 25;1139(4):275-9. [PubMed Link Image]
  10. Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR: Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab. 1992 Mar;74(3):667-72. [PubMed Link Image]
  11. Imai T, Globerman H, Gertner JM, Kagawa N, Waterman MR: Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency. J Biol Chem. 1993 Sep 15;268(26):19681-9. [PubMed Link Image]
  12. Monno S, Ogawa H, Date T, Fujioka M, Miller WL, Kobayashi M: Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency. J Biol Chem. 1993 Dec 5;268(34):25811-7. [PubMed Link Image]
  13. Fardella CE, Zhang LH, Mahachoklertwattana P, Lin D, Miller WL: Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab. 1993 Aug;77(2):489-93. [PubMed Link Image]
  14. Fardella CE, Hum DW, Homoki J, Miller WL: Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab. 1994 Jul;79(1):160-4. [PubMed Link Image]
  15. Laflamme N, Leblanc JF, Mailloux J, Faure N, Labrie F, Simard J: Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients. J Clin Endocrinol Metab. 1996 Jan;81(1):264-8. [PubMed Link Image]
  16. Biason-Lauber A, Kempken B, Werder E, Forest MG, Einaudi S, Ranke MB, Matsuo N, Brunelli V, Schonle EJ, Zachmann M: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. J Clin Endocrinol Metab. 2000 Mar;85(3):1226-31. [PubMed Link Image]
  17. Gupta MK, Geller DH, Auchus RJ: Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. J Clin Endocrinol Metab. 2001 Sep;86(9):4416-23. [PubMed Link Image]
  18. Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A: Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene. J Clin Endocrinol Metab. 2002 Feb;87(2):898-905. [PubMed Link Image]
  19. Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, Otten BJ, Drop SL, De Jong FH: Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. J Clin Endocrinol Metab. 2002 Dec;87(12):5714-21. [PubMed Link Image]
Enzyme 3 Metabolite References Not Available
Enzyme 4 [top]
Enzyme 4 ID 12986
Enzyme 4 Name cDNA FLJ75712, highly similar to Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Enzyme 4 Synonyms
  1. HSD3B1, mRNA
Enzyme 4 Gene Name Not Available
Enzyme 4 Protein Sequence >cDNA FLJ75712, highly similar to Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 
MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLE
GDILDEPFLKRACQDVSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVF
IYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPAPYPHSKKLAEKAVLAANGWNLKNGGTL
YTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRAL
QDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLDSRWSFPLSLMYWIGFLLEI
VSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSL
VDRHKETLKSKTQ
Enzyme 4 Number of Residues 373
Enzyme 4 Molecular Weight 42252
Enzyme 4 Theoretical pI 8.98
Enzyme 4 GO Classification Not Available
Enzyme 4 General Function Cell wall/membrane/envelope biogenesis
Enzyme 4 Specific Function Not Available
Enzyme 4 Pathways Not Available
Enzyme 4 Reactions Not Available
Enzyme 4 Pfam Domain Function Not Available
Enzyme 4 Signals
  • None
Enzyme 4 Transmembrane Regions
  • None
Enzyme 4 Essentiality Not Available
Enzyme 4 GenBank ID Protein 158256544 Link Image
Enzyme 4 UniProtKB/Swiss-Prot ID A8K691 Link Image
Enzyme 4 UniProtKB/Swiss-Prot Entry Name A8K691_HUMAN Link Image
Enzyme 4 PDB ID Not Available
Enzyme 4 Cellular Location Not Available
Enzyme 4 Gene Sequence Not Available
Enzyme 4 GenBank Gene ID AK291556 Link Image
Enzyme 4 GeneCard ID A8K691 Link Image
Enzyme 4 GenAtlas ID Not Available
Enzyme 4 HGNC ID Not Available
Enzyme 4 Chromosome Location Not Available
Enzyme 4 Locus Not Available
Enzyme 4 SNPs Not Available
Enzyme 4 General References Not Available
Enzyme 4 Metabolite References Not Available
Enzyme 5 [top]
Enzyme 5 ID 13012
Enzyme 5 Name cDNA FLJ76435, highly similar to Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1
Enzyme 5 Synonyms
  1. CYP11A1, mRNA
  2. Cytochrome P450, family 11, subfamily A, polypeptide 1, isoform CRA_b
Enzyme 5 Gene Name CYP11A1
Enzyme 5 Protein Sequence >cDNA FLJ76435, highly similar to Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 
MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWL
NLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPER
FLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVS
VLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQM
FHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRG
ILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAAR
HQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIY
ALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINML
ENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ
Enzyme 5 Number of Residues 521
Enzyme 5 Molecular Weight 60103
Enzyme 5 Theoretical pI 9.18
Enzyme 5 GO Classification Not Available
Enzyme 5 General Function Secondary metabolites biosynthesis, transport and catabolism
Enzyme 5 Specific Function Not Available
Enzyme 5 Pathways Not Available
Enzyme 5 Reactions Not Available
Enzyme 5 Pfam Domain Function Not Available
Enzyme 5 Signals
  • None
Enzyme 5 Transmembrane Regions
  • None
Enzyme 5 Essentiality Not Available
Enzyme 5 GenBank ID Protein 158258032 Link Image
Enzyme 5 UniProtKB/Swiss-Prot ID A8K8D5 Link Image
Enzyme 5 UniProtKB/Swiss-Prot Entry Name A8K8D5_HUMAN Link Image
Enzyme 5 PDB ID Not Available
Enzyme 5 Cellular Location Not Available
Enzyme 5 Gene Sequence Not Available
Enzyme 5 GenBank Gene ID AK292300 Link Image
Enzyme 5 GeneCard ID A8K8D5 Link Image
Enzyme 5 GenAtlas ID Not Available
Enzyme 5 HGNC ID Not Available
Enzyme 5 Chromosome Location Not Available
Enzyme 5 Locus Not Available
Enzyme 5 SNPs SNPJam Report Link Image
Enzyme 5 General References Not Available
Enzyme 5 Metabolite References Not Available
Enzyme 6 [top]
Enzyme 6 ID 13013
Enzyme 6 Name Cytochrome P450 21-hydroxylase
Enzyme 6 Synonyms
  1. Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b
  2. Cytochrome P450, family 21, subfamily A, polypeptide 2
  3. DJ34F7.3
  4. Cytochrome P450, subfamily XXIA
  5. Steroid 21-hydroxylase, congenital adrenal hyperplasia, polypeptide 2
  6. CYP21, P450c21B
Enzyme 6 Gene Name P450-CYP21B
Enzyme 6 Protein Sequence >Cytochrome P450 21-hydroxylase 
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIY
RLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAH
KKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGD
KIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEM
QLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANT
LSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVV
PLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRAL
AFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQSQ
Enzyme 6 Number of Residues 495
Enzyme 6 Molecular Weight 56002
Enzyme 6 Theoretical pI 7.90
Enzyme 6 GO Classification
Function
  • binding
  • catalytic activity
  • cation binding
  • heme binding
  • ion binding
  • iron ion binding
  • monooxygenase activity
  • oxidoreductase activity
  • tetrapyrrole binding
  • transition metal ion binding
Process
  • cellular metabolism
  • electron transport
  • generation of precursor metabolites and energy
  • metabolism
  • physiological process
Component
—
Enzyme 6 General Function Secondary metabolites biosynthesis, transport and catabolism
Enzyme 6 Specific Function Not Available
Enzyme 6 Pathways Not Available
Enzyme 6 Reactions Not Available
Enzyme 6 Pfam Domain Function
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 Q16874 Link Image
Enzyme 6 UniProtKB/Swiss-Prot Entry Name Q16874_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 AF019413 Link Image
Enzyme 6 GeneCard ID Q16874 Link Image
Enzyme 6 GenAtlas ID P450-CYP21B Link Image
Enzyme 6 HGNC ID HGNC:2600 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
Enzyme 7 [top]
Enzyme 7 ID 14860
Enzyme 7 Name HSD3B2 protein
Enzyme 7 Synonyms
  1. Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Enzyme 7 Gene Name HSD3B2
Enzyme 7 Protein Sequence >HSD3B2 protein 
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEG
DILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFI
YTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLY
TCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALR
DPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLV
DRHKETLKSKTQ
Enzyme 7 Number of Residues 372
Enzyme 7 Molecular Weight 42053
Enzyme 7 Theoretical pI 8.17
Enzyme 7 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 7 General Function Cell wall/membrane/envelope biogenesis
Enzyme 7 Specific Function Not Available
Enzyme 7 Pathways Not Available
Enzyme 7 Reactions Not Available
Enzyme 7 Pfam Domain Function
Enzyme 7 Signals
  • None
Enzyme 7 Transmembrane Regions
  • None
Enzyme 7 Essentiality Not Available
Enzyme 7 GenBank ID Protein 124297709 Link Image
Enzyme 7 UniProtKB/Swiss-Prot ID A2RRA5 Link Image
Enzyme 7 UniProtKB/Swiss-Prot Entry Name A2RRA5_HUMAN Link Image
Enzyme 7 PDB ID Not Available
Enzyme 7 Cellular Location Not Available
Enzyme 7 Gene Sequence >1119 bp 
ATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGC
CTGTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCA
GAATTGAGAGAGGAATTTTCTAAGCTCCAGAACAGGACCAAGCTGACTGTACTTGAAGGA
GACATTCTGGATGAGCCATTCCTGAAAAGAGCCTGCCAGGACGTCTCGGTCGTCATCCAC
ACCGCCTGTATCATTGATGTCTTTGGTGTCACTCACAGAGAGTCCATCATGAATGTCAAT
GTGAAAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATC
TACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGC
CACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTT
GCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTAC
ACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGT
ATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTC
AACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGG
GACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCT
CACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGAT
TCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTG
AGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACA
TTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAG
CCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTG
GACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGA
Enzyme 7 GenBank Gene ID BC131488 Link Image
Enzyme 7 GeneCard ID A2RRA5 Link Image
Enzyme 7 GenAtlas ID Not Available
Enzyme 7 HGNC ID Not Available
Enzyme 7 Chromosome Location Not Available
Enzyme 7 Locus Not Available
Enzyme 7 SNPs SNPJam Report Link Image
Enzyme 7 General References
  1. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. [PubMed Link Image]
Enzyme 7 Metabolite References Not Available
Enzyme 8 [top]
Enzyme 8 ID 15062
Enzyme 8 Name Cytochrome P450, family 21, subfamily A, polypeptide 2
Enzyme 8 Synonyms Not Available
Enzyme 8 Gene Name CYP21A2
Enzyme 8 Protein Sequence >Cytochrome P450, family 21, subfamily A, polypeptide 2 
MLLLGLLLLLPLLAGARLLWNWWKLQSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIY
RLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAH
KKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGD
KIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEM
QLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANT
LSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVV
PLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRAL
AFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQSQ
Enzyme 8 Number of Residues 495
Enzyme 8 Molecular Weight 55974
Enzyme 8 Theoretical pI 7.68
Enzyme 8 GO Classification
Function
  • binding
  • catalytic activity
  • cation binding
  • heme binding
  • ion binding
  • iron ion binding
  • monooxygenase activity
  • oxidoreductase activity
  • tetrapyrrole binding
  • transition metal ion binding
Process
  • cellular metabolism
  • electron transport
  • generation of precursor metabolites and energy
  • metabolism
  • physiological process
Component
—
Enzyme 8 General Function Secondary metabolites biosynthesis, transport and catabolism
Enzyme 8 Specific Function Not Available
Enzyme 8 Pathways Not Available
Enzyme 8 Reactions Not Available
Enzyme 8 Pfam Domain Function
Enzyme 8 Signals
  • None
Enzyme 8 Transmembrane Regions
  • None
Enzyme 8 Essentiality Not Available
Enzyme 8 GenBank ID Protein 115528435 Link Image
Enzyme 8 UniProtKB/Swiss-Prot ID Q08AG9 Link Image
Enzyme 8 UniProtKB/Swiss-Prot Entry Name Q08AG9_HUMAN Link Image
Enzyme 8 PDB ID Not Available
Enzyme 8 Cellular Location Not Available
Enzyme 8 Gene Sequence >1488 bp 
ATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGG
AACTGGTGGAAGCTCCAGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACTTG
CTGCAGCCCGACCTCCCAATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTAC
AGGCTCCACCTTGGGCTGCAAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAA
GCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTACAAGCTG
GTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCAC
AAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTG
GAGCAGCTGACCCAGGAGTTCTGTGAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCC
ATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGAC
AAGATCAAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAA
ACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGTTCTTCCCC
AATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATG
CAGCTGAGGCAGCACAAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTAC
ATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGG
CACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACC
CTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGATTCAGCAGCGACTGCAGGAG
GAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGT
GCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTG
CCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGCATCTCCGGCTACGACATCCCT
GAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAG
AGGCCACATGAGTTCTGGCCTGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTG
GCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTC
GTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCC
TCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGG
CTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGA
Enzyme 8 GenBank Gene ID BC125181 Link Image
Enzyme 8 GeneCard ID Q08AG9 Link Image
Enzyme 8 GenAtlas ID CYP21A2 Link Image
Enzyme 8 HGNC ID HGNC:2600 Link Image
Enzyme 8 Chromosome Location Not Available
Enzyme 8 Locus Not Available
Enzyme 8 SNPs SNPJam Report Link Image
Enzyme 8 General References
  1. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA: Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. [PubMed Link Image]
Enzyme 8 Metabolite References Not Available