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NameCholesterol side-chain cleavage enzyme, mitochondrial
Synonyms
  • 1.14.15.6
  • Cholesterol desmolase
  • CYP11A
  • CYPXIA1
  • Cytochrome P450 11A1
  • Cytochrome P450(scc)
Gene NameCYP11A1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0006815|Cholesterol side-chain cleavage enzyme, mitochondrial
MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWL
NLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPER
FLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVS
VLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQM
FHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRG
ILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAAR
HQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIY
ALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINML
ENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ
Number of residues521
Molecular Weight60101.87
Theoretical pI9.18
GO Classification
Functions
  • oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
  • cholesterol monooxygenase (side-chain-cleaving) activity
  • cholesterol binding
  • iron ion binding
  • heme binding
Processes
  • progesterone biosynthetic process
  • response to gamma radiation
  • xenobiotic metabolic process
  • response to fungicide
  • cellular response to peptide hormone stimulus
  • hippocampus development
  • response to corticosterone
  • response to genistein
  • response to drug
  • cellular response to interleukin-1
  • estrogen biosynthetic process
  • response to insecticide
  • response to alkaloid
  • testosterone biosynthetic process
  • response to salt stress
  • small molecule metabolic process
  • response to L-ascorbic acid
  • cerebellum development
  • cellular response to fibroblast growth factor stimulus
  • response to amino acid
  • Schwann cell differentiation
  • cellular response to transforming growth factor beta stimulus
  • cellular response to follicle-stimulating hormone stimulus
  • maternal process involved in female pregnancy
  • secondary metabolite biosynthetic process
  • cellular response to tumor necrosis factor
  • cellular response to cadmium ion
  • response to vitamin E
  • response to hydrogen peroxide
  • dibenzo-p-dioxin metabolic process
  • Leydig cell differentiation
  • oxidation-reduction process
  • phenol-containing compound metabolic process
  • cellular response to cAMP
  • steroid metabolic process
  • C21-steroid hormone biosynthetic process
  • glucocorticoid biosynthetic process
  • sterol metabolic process
  • biphenyl metabolic process
  • vitamin D metabolic process
  • cortisol metabolic process
  • mating behavior
  • cellular response to lipopolysaccharide
  • granulosa cell differentiation
  • phthalate metabolic process
  • cellular response to antibiotic
  • cholesterol metabolic process
Components
  • mitochondrion
  • mitochondrial inner membrane
  • mitochondrial matrix
  • mitochondrial crista
  • perikaryon
General FunctionOxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, nad(p)h as one donor, and incorporation of one atom of oxygen
Specific FunctionCatalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID181376
UniProtKB IDP05108
UniProtKB Entry NameCP11A_HUMAN
Cellular LocationMitochondrion membrane
Gene sequence
>lcl|BSEQ0012463|Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11A1)
ATGCTGGCCAAGGGTCTTCCCCCACGCTCAGTCCTGGTCAAAGGCTGCCAGACCTTTCTG
AGTGCCCCCAGGGAGGGGCTGGGGCGTCTCAGGGTGCCCACTGGCGAGGGAGCTGGCATC
TCCACCCGCAGTCCTCGCCCCTTCAATGAGATCCCCTCTCCTGGTGACAATGGCTGGCTA
AACCTGTACCATTTCTGGAGGGAGACGGGCACACACAAAGTCCACCTTCACCATGTCCAG
AATTTCCAGAAGTATGGCCCGATTTACAGGGAGAAGCTCGGCAACGTGGAGTCGGTTTAT
GTCATCGACCCTGAAGATGTGGCCCTTCTCTTTAAGTCCGAGGGCCCCAACCCAGAACGA
TTCCTCATCCCGCCCTGGGTCGCCTATCACCAGTATTACCAGAGACCCATAGGAGTCCTG
TTGAAGAAGTCGGCAGCCTGGAAGAAAGACCGGGTGGCCCTGAACCAGGAGGTGATGGCT
CCAGAGGCCACCAAGAACTTTTTGCCCCTGTTGGATGCAGTGTCTCGGGACTTCGTCAGT
GTCCTGCACAGGCGCATCAAGAAGGCGGGCTCCGGAAATTACTCGGGGGACATCAGTGAT
GACCTGTTCCGCTTTGCCTTTGAGTCCATCACTAACGTCATTTTTGGGGAGCGCCAGGGG
ATGCTGGAGGAAGTAGTGAACCCCGAGGCCCAGCGATTCATTGATGCCATCTACCAGATG
TTCCACACCAGCGTCCCCATGCTCAACCTTCCCCCAGACCTGTTCCGTCTGTTCAGGACC
AAGACCTGGAAGGACCATGTGGCTGCATGGGACGTGATTTTCAGTAAAGCTGACATATAC
ACCCAGAACTTCTACTGGGAATTGAGACAGAAAGGAAGTGTTCACCACGATTACCGTGGC
ATCCTCTACAGACTCCTGGGAGACAGCAAGATGTCCTTCGAGGACATCAAGGCCAACGTC
ACAGAGATGCTGGCAGGAGGGGTGGACACGACGTCCATGACCCTGCAGTGGCACTTGTAT
GAGATGGCACGCAACCTGAAGGTGCAGGATATGCTGCGGGCAGAGGTCTTGGCTGCGCGG
CACCAGGCCCAGGGAGACATGGCCACGATGCTACAGCTGGTCCCCCTCCTCAAAGCCAGC
ATCAAGGAGACACTAAGACTTCACCCCATCTCCGTGACCCTGCAGAGATATCTTGTAAAT
GACTTGGTTCTTCGAGATTACATGATTCCTGCCAAGACACTGGTGCAAGTGGCCATCTAT
GCTCTGGGCCGAGAGCCCACCTTCTTCTTCGACCCGGAAAATTTTGACCCAACCCGATGG
CTGAGCAAAGACAAGAACATCACCTACTTCCGGAACTTGGGCTTTGGCTGGGGTGTGCGG
CAGTGTCTGGGACGGCGGATCGCTGAGCTAGAGATGACCATCTTCCTCATCAATATGCTG
GAGAACTTCAGAGTTGAAATCCAACACCTCAGCGATGTGGGCACCACATTCAACCTCATT
CTGATGCCTGAAAAGCCCATCTCCTTCACCTTCTGGCCCTTTAACCAGGAAGCAACCCAG
CAGTGA
GenBank Gene IDM14565
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:2590
Chromosome Location15
Locus15q23-q24
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. 3024157
  2. Morohashi K, Sogawa K, Omura T, Fujii-Kuriyama Y: Gene structure of human cytochrome P-450(SCC), cholesterol desmolase. J Biochem. 1987 Apr;101(4):879-87. 3038854
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  6. 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. 1849407
  7. 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. 2419119
  8. Strushkevich N, MacKenzie F, Cherkesova T, Grabovec I, Usanov S, Park HW: Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system. Proc Natl Acad Sci U S A. 2011 Jun 21;108(25):10139-43. doi: 10.1073/pnas.1019441108. Epub 2011 Jun 2. 21636783
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  12. al Kandari H, Katsumata N, Alexander S, Rasoul MA: Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. J Clin Endocrinol Metab. 2006 Aug;91(8):2821-6. Epub 2006 May 16. 16705068
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  14. Rubtsov P, Karmanov M, Sverdlova P, Spirin P, Tiulpakov A: A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. J Clin Endocrinol Metab. 2009 Mar;94(3):936-9. doi: 10.1210/jc.2008-1118. Epub 2008 Dec 30. 19116240