ID:CP11A_HUMAN DESCRIPTION: RecName: Full=Cholesterol side-chain cleavage enzyme, mitochondrial; EC=1.14.15.6; AltName: Full=CYPXIA1; AltName: Full=Cholesterol desmolase; AltName: Full=Cytochrome P450 11A1; AltName: Full=Cytochrome P450(scc); Flags: Precursor; FUNCTION: Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. CATALYTIC ACTIVITY: Cholesterol + reduced adrenal ferredoxin + O(2) = pregnenolone + 4-methylpentanal + oxidized adrenal ferredoxin + H(2)O. COFACTOR: Heme group (By similarity). PATHWAY: Lipid metabolism; C21-steroid hormone metabolism. SUBCELLULAR LOCATION: Mitochondrion membrane. INDUCTION: By 8-bromo cyclic AMP. DISEASE: Defects in CYP11A1 are the cause of adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]. A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. SIMILARITY: Belongs to the cytochrome P450 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P05108
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0005506 iron ion binding GO:0005515 protein binding GO:0008386 cholesterol monooxygenase (side-chain-cleaving) activity GO:0016491 oxidoreductase activity GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0020037 heme binding GO:0046872 metal ion binding
Biological Process: GO:0006629 lipid metabolic process GO:0006694 steroid biosynthetic process GO:0006700 C21-steroid hormone biosynthetic process GO:0008202 steroid metabolic process GO:0008203 cholesterol metabolic process GO:0008207 C21-steroid hormone metabolic process GO:0016125 sterol metabolic process GO:0042359 vitamin D metabolic process GO:0055114 oxidation-reduction process
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
