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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
  • 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
  • biphenyl metabolic process
  • sterol metabolic process
  • cortisol metabolic process
  • vitamin D metabolic process
  • granulosa cell differentiation
  • mating behavior
  • cellular response to lipopolysaccharide
  • phthalate metabolic process
  • cellular response to antibiotic
  • cholesterol metabolic process
  • xenobiotic metabolic process
  • progesterone biosynthetic process
  • response to gamma radiation
  • hippocampus development
  • response to fungicide
  • cellular response to peptide hormone stimulus
Components
  • mitochondrial matrix
  • mitochondrial crista
  • perikaryon
  • mitochondrion
  • mitochondrial inner membrane
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