Recombinant Human Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11A1)

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Code CSB-EP006389HU
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Size $224
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of CSB-EP006389HU could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) CYP11A1.
  • Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of CSB-EP006389HU could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) CYP11A1.
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Product Details

Purity
Greater than 90% as determined by SDS-PAGE.
Target Names
CYP11A1
Uniprot No.
Research Area
Metabolism
Alternative Names
Cholesterol 20 22 desmolase; Cholesterol desmolase; Cholesterol monooxygenase (side chain cleaving); Cholesterol side chain cleavage enzyme; Cholesterol side chain cleavage enzyme mitochondrial; Cholesterol side-chain cleavage enzyme; CP11A_HUMAN; CYP11A; CYP11A1; CYPXIA1; Cytochrome P450 11A1; Cytochrome P450 11A1 mitochondrial; Cytochrome P450 family 11 subfamily A polypeptide 1; Cytochrome P450 subfamily XIA; Cytochrome P450(scc); Cytochrome P450C11A1; mitochondrial; P450SCC; Steroid 20 22 lyase
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
40-521aa
Target Protein Sequence
ISTRSPRPFNEIPSPGDNGWLNLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRGILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIYALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINMLENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
72.1kDa
Protein Length
Full Length of Mature Protein
Tag Info
N-terminal 6xHis-SUMO-tagged
Form
Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
3-7 business days
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA
Please contact us to get it.
Description

This recombinant Human CYP11A1 protein is an E.coli expressed protein (Full Length of Mature Protein) with N-terminal 6xHis-SUMO tag and its purity is 90%+ determined by SDS-PAGE. With the appropriate cDNA and PCR methods, CYP11A1 expression plasmids can be rapidly produced. which must undergo denaturation and folding cycle, can be recovered with more modest yields. Hence, using small-scale fermentations and laboratory-scale processing equipment, CYP11A1 proteins (or subdomains thereof) can usually be produced in sufficient quantities to initiate most studies including detailed structural determinations.which must undergo denaturation and folding cycle, can be recovered with more modest yields. Hence, using small-scale fermentations and laboratory-scale processing equipment, CYP11A1 proteins (or subdomains thereof) can usually be produced in sufficient quantities to initiate most studies including detailed structural determinations.

CYP11A1 is the first and rate-limiting enzyme in the steroidogenic pathway that contributes to the conversion of cholesterol to pregnenolone. It thus plays a major role in the modulation of steroidogenesis. CYP11A1 is primarily expressed in the adrenal cortex. Mutations in the CYP11A1 gene induce steroid hormone deficiency and can lead to lipoid congenital adrenal hyperplasia and are related to primary adrenal insufficiency (PAI) and disorders of sex development (DSD) in 46, XY patients. CYP11A1 is also involved in the development of peanut allergy, modulating peanut-induced allergic responses through effects on steroidogenesis. As a result, CYP11A1 is a unique target for the regulation and therapy of peanut allergy.

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Target Background

Function
A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones. Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R-hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin).
Gene References into Functions
  1. Active Site Structures of CYP11A1 in the Presence of Its Physiological Substrates and Alterations upon Binding of Adrenodoxin PMID: 28991453
  2. The present study systematically evaluated the genetic effect of the estrogen metabolic pathway on alzheimer's based on 78 polymorphisms distributed across four genes. In the southern Chinese population, strong evidence of associations with AD were detected for polymorphisms in ESR2 and CYP11A1. PMID: 28102888
  3. deregulation of miR-320a/RUNX2/CYP11A1 (CYP19A1) cascade plays an important role in the development of estrogen deficiency in human cumulus granulosa cells PMID: 27965096
  4. The steroidogenic enzymes cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), cytochrome P450 17 alpha-hydroxylase (P450c17) and 3beta-hydroxysteroid dehydrogenase (3beta-HSD) showed immunoreactivity in 9/20 (45.0 %), 15/20 (75.0 %) and 13/20 (65.0 %), respectively, of ovarian-type stroma from pancreatic mucinous cystic neoplasm cases. PMID: 27060902
  5. The findings of this study provided further support for the hypothesis that a susceptibility gene for autism spectrum disorder exists within or near the CYP11A1 gene in the Han Chinese population. PMID: 26690694
  6. These findings contribute in clarifying the relationship between hormones regulating the early phase of steroidogenesis confirming that AMH is playing a suppressive role on CYP19A1 expression stimulated by gonadotropin in hGCs. Furthermore, a similar inhibitory effect for AMH was observed on P450scc gene expression when activated by gonadotropin treatment. PMID: 26631403
  7. An epistatic effect between CYP11A1 and VDR polymorphisms may contribute to the predisposition to childhood asthma. PMID: 26750596
  8. The study characterizes the intermediates in the second and third steps of the enzymatic process by which P450scc converts cholesterol to pregnenolone. PMID: 26603348
  9. In prostate cancer, increased DNA methylation of SRD5A2 and CYP11A1 related to androgen biosynthesis functions may play a role in biochemical recurrence after patients' prostatectomy PMID: 26332453
  10. polymorphisms of CYP11A1 are related to breast cancer susceptibility in Han Chinese women of South China. PMID: 22606018
  11. Data indicate a role of cytochrome P450 11A1 (CYP11A1 in sterol metabolism. PMID: 25130438
  12. CYP11A1 (tttta)(n) repeat polymorphism appeared to be a potential molecular marker for PCOS risk in our population. Gene-gene and gene-environmental interactions with respect to obesity may play a role in the early onset of this multifactorial condition. PMID: 24793009
  13. There may be an association between CYP11A1 promoter pentanucleotide repeat polymorphism and polycystic ovary syndrome. (Meta-analysis) PMID: 24610422
  14. This meta-analysis suggests that CYP11A1 microsatellite [TTTA]n repeat polymorphisms may contribute to increasing susceptibility to polycystic ovary syndrome among Caucasian populations. PMID: 23852617
  15. the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower. PMID: 24244276
  16. The results of this study demonistrated that Cyp11a1 is a target of SF-1 in gonadotroph cells and promotes proliferation/survival of rat pituitary adenoma primary cells and cell lines. PMID: 23756599
  17. abnormally high expression of CYP11A inhibits trophoblastic proliferation and increases apoptosis and therefore could be involved in the pathogenesis of preeclampsia PMID: 23555723
  18. study describes 7 patients with P450scc deficiency whose presentations ranged from severe neonatal adrenal crisis with wholly inactivating loss-of-function mutations in CYP11A1 to children who presented with normal male genitalia at up to 4 years of age PMID: 23337730
  19. deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme cause neonatal adrenal failure PMID: 23158025
  20. Tissues expressing P450scc can metabolize 7-dehydrocholesterol to biologically active 7-dehydropregnenolone. PMID: 22877869
  21. Mutations in the CYP11A1 gene encoding cholesterol side-chain cleavage enzyme cause disordered pregnenolone synthesis, and STAR mutations do not necessarily results in typical congenital lipoid adrenal hyperplasia. PMID: 23330251
  22. Carriers of the CYP11A1 TCG haplotype had lower (P PMID: 22673022
  23. SNP rs4077582 in CYP11A1 is strongly associated with susceptibility to PCOS and may alter the testosterone levels by the regulation of LH in different genotypes. No association was observed in rs11632698. PMID: 22699877
  24. NAD(+)-dependent SIRT deacetylase has a role in regulating the expression of mitochondrial steroidogenic P450 PMID: 22585829
  25. Daxx, a HIPK kinase substrate in the apoptosis pathway, was phosphorylated by HIPK3 at Ser-669 in response to cAMP stimulation. PMID: 22199361
  26. Features of the retinal environment which affect the activities and product profile of cholesterol-metabolizing cytochromes P450 CYP27A1 and CYP11A1. PMID: 22227097
  27. Evidence that partial CYP11A1 deficiency has to be considered as a differential diagnosis in clinically isolated adrenal insufficiency. PMID: 21880796
  28. Repeat polymorphism in CYP11A1 is associated with Prostate Cancer. PMID: 21771722
  29. In PCOS patients, there was a correlation between UCP-2 and CYP11A1 expression, which was significantly higher than in the control group. PMID: 21557918
  30. Results present the crystal structure of the complex of human adrenodoxin and CYP11A1--the first of a complex between a eukaryotic CYP and its redox partner. PMID: 21636783
  31. We have identified regions of the promoter that control CYP11A1 expression in the brain and embryonic adrenals. PMID: 21520051
  32. This article reviews recent studies on cis-regulatory elements and trans-regulators of the CYP11A1 promoter, with special focus on their tissue-specific regulation. PMID: 21195129
  33. Partial loss-of-function CYP11A1 mutation can present with a hormonal phenotype indistinguishable from nonclassic lipoid lipoid adrenal hyperplasia PMID: 21159840
  34. Polymorphism of CYP11A1 was associated with polycystic ovarian syndrome in Chinese patients. PMID: 20450755
  35. P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia. PMID: 21164259
  36. promoter variability of CYP11A1 does not play a key role in the pathogenesis of PCOS PMID: 21391350
  37. No significant difference in P450(scc) mRNA was found among normal adrenal gland, APA or idiopathic hyperplastic nodules (P > 0.05). These results suggest that P450(scc) contributes little to the overproduction of aldosterone in APA and IHA. PMID: 20066577
  38. Findings suggest that the syncytiotrophoblast cells are the major site expressing P450scc in early placenta, and that increasing P450scc in placental villi lay a foundation for site-shift of progesterone biosynthesis from the corpus luteum to placenta. PMID: 15323426
  39. Genetic variants in CYP11A1 may influence endometrial cancer risk or may be markers for causal variants elsewhere. PMID: 20199803
  40. Salt-inducible kinase represses cAMP-dependent protein kinase-mediated activation of cyp11a promoter through the CREB basic leucine zipper domain PMID: 11864972
  41. p450scc expression is regulated by TReP-132, steroidogenic factor-1 and CBP/p300 PMID: 12101186
  42. cholesterol is near-saturating for cytochrome P450scc activity in placental mitochondria due to the P450scc displaying a low K(m) for cholesterol resulting from the low and rate-limiting concentration of adrenodoxin reductase present PMID: 12137805
  43. Transcription of cholesterol side-chain cleavage cytochrome P450 in the placenta: activating protein-2 assumes the role of steroidogenic factor-1 by binding to an overlapping promoter element. PMID: 12145340
  44. Results support the hypothesis that NO inhibits the rate-limiting enzyme CYP11A1 in steroidogenesis independent of guanylyl cyclase activation. PMID: 12242026
  45. cytochrome P450 side chain cleavage mRNA was increased threefold in the ovarian stroma of postmenopausal women with endometrial cancer and endometrial hyperplasia PMID: 12517592
  46. TReP-132 interacts with steroidogenic factor-1 (SF-1) through specific domains; and along with the interaction with CBP/p300 these factors are postulated to form a complex to regulate expression of the P450scc gene. PMID: 12530663
  47. CYP11A and CYP17 expressed centrally within fetal zone at 50 days post-conception and later during first trimester. Weaker CYP11A immunoreactivity also was visible in outer region of adrenal cortex consistent with definitive zone expresion. PMID: 12530676
  48. CYP11A mRNAs were more abundant in polycystic ovary syndrome theca cells than in normal theca cells. PMID: 14644808
  49. Associations between CYP11A promoter variation and androgen-related phenotypes has been substantially overestimated in previous studies. PMID: 15126571
  50. CYP11A1 polymorphism near the promoter region may be an important susceptibility factor for breast cancer risk. PMID: 15159300

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Involvement in disease
Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
Subcellular Location
Mitochondrion inner membrane; Peripheral membrane protein.
Protein Families
Cytochrome P450 family
Database Links

HGNC: 2590

OMIM: 118485

KEGG: hsa:1583

STRING: 9606.ENSP00000268053

UniGene: Hs.303980

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