WordNet
- any of several fat-soluble organic compounds having as a basis 17 carbon atoms in four rings; many have important physiological effects
PrepTutorEJDIC
- ステロイド(脂肪溶解性の有機化合物の総称)
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/05/28 22:57:13」(JST)
[Wiki en表示]
| Steroid 21-monooxygenase |
| Identifiers |
| EC number |
1.14.99.10 |
| CAS number |
9029-68-9 |
| Databases |
| IntEnz |
IntEnz view |
| BRENDA |
BRENDA entry |
| ExPASy |
NiceZyme view |
| KEGG |
KEGG entry |
| MetaCyc |
metabolic pathway |
| PRIAM |
profile |
| PDB structures |
RCSB PDB PDBe PDBsum |
| Gene Ontology |
AmiGO / EGO |
| Search |
| PMC |
articles |
| PubMed |
articles |
| NCBI |
proteins |
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| Cytochrome P450, family 21, subfamily A, polypeptide 2 |
| Available structures |
| PDB |
Ortholog search: PDBe, RCSB |
| List of PDB id codes |
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2GEG
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| Identifiers |
| Symbols |
CYP21A2; CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B |
| External IDs |
OMIM: 613815 MGI: 88591 HomoloGene: 68063 ChEMBL: 2759 GeneCards: CYP21A2 Gene |
| EC number |
1.14.99.10 |
| Gene Ontology |
| Molecular function |
• steroid 21-monooxygenase activity
• steroid binding
• iron ion binding
• steroid hydroxylase activity
• electron carrier activity
• heme binding
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| Cellular component |
• endoplasmic reticulum membrane
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| Biological process |
• glucocorticoid biosynthetic process
• mineralocorticoid biosynthetic process
• xenobiotic metabolic process
• steroid metabolic process
• small molecule metabolic process
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| Sources: Amigo / QuickGO |
|
| RNA expression pattern |
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| More reference expression data |
| Orthologs |
| Species |
Human |
Mouse |
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| Entrez |
1589 |
13079 |
|
| Ensembl |
ENSG00000198457 |
ENSMUSG00000024365 |
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| UniProt |
P08686 |
P03940 |
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| RefSeq (mRNA) |
NM_000500 |
NM_009995 |
|
| RefSeq (protein) |
NP_000491 |
NP_034125 |
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| Location (UCSC) |
Chr 6:
32.01 – 32.01 Mb |
Chr 17:
34.8 – 34.8 Mb |
|
| PubMed search |
[1] |
[2] |
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Steroid 21-hydroxylase is a cytochrome P450 enzyme that is involved with the biosynthesis of the steroid hormones aldosterone and cortisol.[1]
In humans, 21-Hydroxylase is encoded by the gene CYP21A2.[2]
|
Contents
- 1 Names and classification
- 2 Function
- 3 Reaction
- 4 Pathway
- 5 Clinical significance
- 6 References
- 7 Further reading
- 8 External links
|
Names and classification [edit]
21-Hydroxylase is also called steroid 21-monooxygenase, 21α-Hydroxylase, and, less commonly 21β-Hydroxylase.
Function [edit]
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone.[3]
Reaction [edit]
21-Hydroxylase catalyses the hydroxylation of the carbon atom 21 in steroids (adding an "–OH"), which is necessary with the formation of these hormones.
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Steroid numbering - #21 is near center top
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Pathway [edit]
Human steroidogenesis, showing both reactions of 21-Hydroxylase at center top.
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Corticosteroid biosynthetic pathway in the rat.
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Clinical significance [edit]
A defect within the CYP21A2 gene causes a disturbance of the development of the enzyme, which leads to congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought account for many cases of steroid 21-hydroxylase deficiency.[3]
References [edit]
- ^ Ryan KJ, Engel LL (March 1957). "Hydroxylation of steroids at carbon 21". J. Biol. Chem. 225 (1): 103–14. PMID 13416221.
- ^ Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y (May 1986). "Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene". Proc. Natl. Acad. Sci. U.S.A. 83 (9): 2841–5. doi:10.1073/pnas.83.9.2841. PMC 323402. PMID 3486422.
- ^ a b "Entrez Gene: CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2".
Further reading [edit]
- White PC, Tusie-Luna MT, New MI, Speiser PW (1994). "Mutations in steroid 21-hydroxylase (CYP21).". Hum. Mutat. 3 (4): 373–8. doi:10.1002/humu.1380030408. PMID 8081391.
- Helmberg A (1993). "Twin genes and endocrine disease: CYP21 and CYP11B genes.". Acta Endocrinol. 129 (2): 97–108. PMID 8372604.
- de-Araujo M, Sanches MR, Suzuki LA, et al. (1996). "Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency.". Braz. J. Med. Biol. Res. 29 (1): 1–13. PMID 8731325.
- Yu CY (1999). "Molecular genetics of the human MHC complement gene cluster.". Exp. Clin. Immunogenet. 15 (4): 213–30. doi:10.1159/000019075. PMID 10072631.
- Forest MG, Tardy V, Nicolino M, et al. (2005). "21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease.". Ann. Endocrinol. (Paris) 66 (3): 225–32. PMID 15988383.
External links [edit]
- GeneReviews/NCBI/NIH/UW entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- OMIM entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Synthesis of Desoxycorticosterone from Progesterone through 21-Hydroxylase (Image)
- Steroid 21-Hydroxylase at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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Oxidoreductases: dioxygenases, including steroid hydroxylases (EC 1.14)
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|
| 1.14.11: 2-oxoglutarate |
- Prolyl hydroxylase
- Lysyl hydroxylase
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|
| 1.14.13: NADH or NADPH |
- Flavin-containing monooxygenase
- Nitric oxide synthase
- Cholesterol 7 alpha-hydroxylase
- Methane monooxygenase
- 3A4
- Lanosterol 14 alpha-demethylase
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| 1.14.14: reduced flavin or flavoprotein |
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| 1.14.15: reduced iron-sulfur protein |
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| 1.14.16: reduced pteridine (BH4 dependent) |
- Phenylalanine hydroxylase
- Tyrosine hydroxylase
- Tryptophan hydroxylase
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| 1.14.17: reduced ascorbate |
- Dopamine beta hydroxylase
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| 1.14.18-19: other |
- Tyrosinase
- Stearoyl-CoA desaturase-1
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| 1.14.99 - miscellaneous |
- Cyclooxygenase
- Heme oxygenase (HMOX1)
- Squalene monooxygenase
- 17A1
- 21A2
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- B
- enzm
- 1.1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 10
- 11
- 13
- 14
- 15-18
- 2.1
- 2.7.10
- 2.7.11-12
- 3.1
- 4.1
- 5.1
- 6.1-3
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Metabolism: lipid metabolism – ketones/cholesterol synthesis enzymes/steroid metabolism
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| Mevalonate pathway |
| To HMG-CoA |
- Acetyl-Coenzyme A acetyltransferase
- HMG-CoA synthase (regulated step)
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| Ketogenesis |
- HMG-CoA lyase
- 3-hydroxybutyrate dehydrogenase
- Thiophorase
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| To Mevalonic acid |
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| To DMAPP |
- Mevalonate kinase
- Phosphomevalonate kinase
- Pyrophosphomevalonate decarboxylase
- Isopentenyl-diphosphate delta isomerase
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| Geranyl- |
- Dimethylallyltranstransferase
- Geranyl pyrophosphate
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| To cholesterol |
| To lanosterol |
- Farnesyl-diphosphate farnesyltransferase
- Squalene monooxygenase
- Lanosterol synthase
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| 7-Dehydrocholesterol path |
- Lanosterol 14α-demethylase
- Sterol-C5-desaturase-like
- 7-Dehydrocholesterol reductase
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| Desmosterol path |
- 24-dehydrocholesterol reductase
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| To Bile acids |
- Cholesterol 7α-hydroxylase
- Sterol 27-hydroxylase
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| Steroidogenesis |
| To pregnenolone |
|
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| To corticosteroids |
- aldosterone: 18-hydroxylase
- cortisol/cortisone: 17α-hydroxylase
- 11β dehydrogenase
- both: 3β dehydrogenase
- 21α-hydroxylase
- 11β-hydroxylase
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| To sex hormones |
| To androgens |
- 17α-hydroxylase/17,20 lyase
- 3β dehydrogenase
- 17β dehydrogenase
- 5α reductase
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| To estrogens |
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| Other/ungrouped |
- Steroid metabolism: sulfatase
- sulfotransferase
- Steroidogenic acute regulatory protein
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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noco (d)/cong/tumr, sysi/epon
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proc, drug (A10/H1/H2/H3/H5)
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Cytochromes, oxygenases: cytochrome P450 (EC 1.14)
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| CYP1 |
|
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| CYP2 |
- A6
- A7
- A13
- B6
- C8
- C9
- C18
- C19
- D6
- E1
- F1
- J2
- R1
- S1
- U1
- W1
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| CYP3 (CYP3A) |
|
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| CYP4 |
- A11
- A22
- B1
- F2
- F3
- F8
- F11
- F12
- F22
- V2
- X1
- Z1
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| CYP5-20 |
- CYP5 (A1)
- CYP7 (A1, B1)
- CYP8 (A1, B1)
- CYP11 (A1, B1, B2)
- CYP17 (A1)
- CYP19 (A1)
- CYP20 (A1)
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| CYP21-51 |
- CYP21 (A2)
- CYP24 (A1)
- CYP26 (A1, B1, C1)
- CYP27 (A1, B1, C1)
- CYP39 (A1)
- CYP46 (A1)
- CYP51 (A1)
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UpToDate Contents
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English Journal
- Evidence that adrenal hexose-6-phosphate dehydrogenase can effect microsomal P450 cytochrome steroidogenic enzymes.
- Foster CA, Mick GJ, Wang X, McCormick K.SourceUniversity of Alabama at Birmingham, Department of Pediatrics, Endocrinology, USA.
- Biochimica et biophysica acta.Biochim Biophys Acta.2013 Sep;1833(9):2039-44. doi: 10.1016/j.bbamcr.2013.05.001. Epub 2013 May 9.
- The role of adrenal hexose-6-phosphate dehydrogenase in providing reducing equivalents to P450 cytochrome steroidogenic enzymes in the endoplasmic reticulum is uncertain. Hexose-6-phosphate dehydrogenase resides in the endoplasmic reticulum lumen and co-localizes with the bidirectional enzyme 11β-h
- PMID 23665046
- Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
- Vogiatzakis N, Kekou K, Sophocleous C, Kitsiou S, Mavrou A, Bakoula C, Kanavakis E.SourceDepartment of Medical Genetics, University of Athens, Athens, Greece.
- Molecular biotechnology.Mol Biotechnol.2013 Sep;55(1):1-9. doi: 10.1007/s12033-007-0062-9. Epub 2007 Aug 14.
- Many human diseases are caused by small alterations in the genes and in the majority of cases sophisticated protocols are required for their detection. In this study we estimated the efficacy of an enzymatic protocol, which using a new mismatch-specific DNA plant endonuclease from celery (CEL family
- PMID 23934597
- A diagnosis not to be missed: Non-classic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
- Reisch N, Högler W, Parajes S, Rose IT, Dhir V, Götzinger J, Arlt W, Krone N.Source1Centre for Endocrinology, Diabetes and Metabolism (N.R., S.P., I.T.R., V.D., W.A., N.K.), School of Clinical & Experimental Medicine, University of Birmingham, Birmingham, United Kingdom;
- The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2013 Aug 12. [Epub ahead of print]
- Context:Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Milder non-classic forms are rare and at risk to be missed.Objective:To demonstrate the challenges in diagnosing non-classic 11OHD.Patients and Methods:Patient 1, a 1
- PMID 23940125
Japanese Journal
- 不適切な副腎皮質ステロイド補充により肥満と糖尿病を呈した成人21水酸化酵素欠損症の1例
- 佐久間 一基,松澤 陽子,齋藤 淳,伊藤 浩子,大村 昌夫,西川 哲男
- 糖尿病 55(3), 209-214, 2012-03-30
- NAID 10030976631
- 症例報告 不適切な副腎皮質ステロイド補充により肥満と糖尿病を呈した成人21水酸化酵素欠損症の1例
★リンクテーブル★
[★]
- 英
- 21-hydroxylase
- 同
- ステロイド21水酸化酵素 ステロイド21-水酸化酵素 steroid 21-hydroxylase、21水酸化酵素、21 beta-hydroxylase、ステロイド21-モノオキシゲナーゼ steroid 21-monooxygenase、シトクロムP-450C21 cytochrome P-450C21、CYP21
臨床関連
[★]
- 英
- steroid 21-hydroxylase
- 関
- ステロイド21ヒドロキシラーゼ、21ヒドロキシラーゼ
[★]
- 英
- steroid 21-hydroxylase
- 関
- ステロイド21水酸化酵素
[★]