CYP11A1
entrez
1583
canonical
uniprot
P05108
canonical
ensembl
ENSG00000140459
resolver
ensembl
ENSG00000288362
resolver
ensp
ENSP00000268053
resolver
ensp
ENSP00000351455
resolver
genesymbol
CYP11A1
resolver
genesymbol_syn
CYP11A
resolver
hgnc
HGNC:2590
resolver
uniprot
A0A0S2Z3R3
resolver
uniprot
A8K8D5
resolver
uniprot
B3KPU8
resolver
uniprot
G3XAD7
resolver
uniprot
Q15081
resolver
uniprot
Q16805
resolver
uniprot
Q8N1A7
resolver
uniprot_entry
A0A0S2Z3R3_HUMAN
resolver
uniprot_entry
CP11A_HUMAN
resolver
uniprot_sec
A8K8D5
resolver
uniprot_sec
B3KPU8
resolver
uniprot_sec
G3XAD7
resolver
uniprot_sec
Q15081
resolver
uniprot_sec
Q16805
resolver
uniprot_sec
Q8N1A7
resolver
amino_acid_sequence
MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWLNLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRGILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIYALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINMLENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ
uniprot
proteins
disease_involvement
DISEASE: 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. {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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.15.6
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones (PubMed:21636783). 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 (PubMed:21636783). 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) (PubMed:21636783). {ECO:0000269|PubMed:21636783}.
uniprot
proteins
mass_dalton
60102
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; C21-steroid hormone metabolism. {ECO:0000269|PubMed:21636783}.; PATHWAY: Steroid metabolism; cholesterol metabolism. {ECO:0000269|PubMed:21636783}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
11502818
uniprot
proteins
pubmed
12161514
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
16705068
uniprot
proteins
pubmed
18182448
uniprot
proteins
pubmed
1849407
uniprot
proteins
pubmed
19116240
uniprot
proteins
pubmed
21636783
uniprot
proteins
pubmed
2419119
uniprot
proteins
pubmed
3024157
uniprot
proteins
pubmed
3038854
uniprot
proteins
sequence_length
521
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P14137}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to the matrix side of the mitochondrion inner membrane. {ECO:0000250|UniProtKB:P14137}.
uniprot
proteins