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MGP000767

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 11, subfamily A, polypeptide 1
Protein EntryCP11A_HUMAN
UniProt IDP05108
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P05108-1; Sequence=Displayed; Name=2; IsoId=P05108-2; Sequence=VSP_045695; Note=No experimental confirmation available.;
Catalytic ActivityCholesterol + 6 reduced adrenodoxin + 3 O(2) + 6 H(+) = pregnenolone + 4-methylpentanal + 6 oxidized adrenodoxin + 4 H(2)O. {ECO:0000269|PubMed:21636783}.
CofactorName=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000269|PubMed:21636783};
DiseaseAdrenal 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. {ECO:0000269|PubMed:11502818, ECO:0000269|PubMed:12161514, ECO:0000269|PubMed:16705068, ECO:0000269|PubMed:18182448, ECO:0000269|PubMed:19116240}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. {ECO:0000269|PubMed:21636783}.
InductionBy 8-bromo cyclic AMP. {ECO:0000269|PubMed:1849407}.
PathwayLipid metabolism; C21-steroid hormone metabolism. {ECO:0000269|PubMed:21636783}.
SimilarityBelongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular LocationMitochondrion membrane.
SubunitInteracts with FDX1/adrenodoxin. {ECO:0000269|PubMed:21636783}.
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