CYP11B1
entrez
1584
canonical
uniprot
P15538
canonical
ensembl
ENSG00000160882
resolver
ensp
ENSP00000292427
resolver
ensp
ENSP00000428043
resolver
genesymbol
CYP11B1
resolver
genesymbol_syn
S11BH
resolver
hgnc
HGNC:2591
resolver
uniprot
Q14095
resolver
uniprot
Q4VAQ8
resolver
uniprot
Q4VAQ9
resolver
uniprot
Q8TDD0
resolver
uniprot
Q9UML2
resolver
uniprot_entry
C11B1_HUMAN
resolver
uniprot_entry
Q8TDD0_HUMAN
resolver
uniprot_sec
Q14095
resolver
uniprot_sec
Q4VAQ8
resolver
uniprot_sec
Q4VAQ9
resolver
uniprot_sec
Q9UML2
resolver
amino_acid_sequence
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFMPRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTVFPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAGTLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN
uniprot
proteins
disease_involvement
DISEASE: Adrenal hyperplasia 4 (AH4) [MIM:202010]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). {ECO:0000269|PubMed:16046588, ECO:0000269|PubMed:20089618, ECO:0000269|PubMed:2022736, ECO:0000269|PubMed:20331679, ECO:0000269|PubMed:20947076, ECO:0000269|PubMed:23940125, ECO:0000269|PubMed:24022297, ECO:0000269|PubMed:24536089, ECO:0000269|PubMed:24987415, ECO:0000269|PubMed:26053152, ECO:0000269|PubMed:26476331, ECO:0000269|PubMed:9302260}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperaldosteronism, familial, 1 (HALD1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by variants affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.
uniprot
proteins
ec_number
1.14.15.4
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase mainly involved in the biosynthesis of adrenal corticoids (PubMed:12530636, PubMed:1518866, PubMed:1775135, PubMed:18215163, PubMed:23322723, PubMed:23685396, PubMed:29277707). Catalyzes a variety of reactions that are essential for many species, including detoxification, defense, and the formation of endogenous chemicals like steroid hormones. Steroid 11beta, 18- and 19-hydroxylase with preferred regioselectivity at 11beta, then 18, and lastly 19 (By similarity). Catalyzes the hydroxylation of 11-deoxycortisol and 11-deoxycorticosterone (21-hydroxyprogesterone) at 11beta position, yielding cortisol or corticosterone, respectively, but cannot produce aldosterone (PubMed:12530636, PubMed:1518866, PubMed:1775135, PubMed:18215163, PubMed:23322723, PubMed:23685396, PubMed:29277707). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate for hydroxylation 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:18215163, PubMed:23685396). Due to its lack of 18-oxidation activity, it is incapable of generating aldosterone (PubMed:23322723). Besides its role in the biosynthesis of mineralocorticoids and glucocorticoids, it can also participate in the androgen metabolic pathway, converting androst-4-ene-3,17-dione to 11beta-hydroxyandrost-4-ene-3,17-dione, and testosterone (17beta-hydroxy-4-androsten-3-one) to 11beta,17beta-dihydroxyandrost-4-ene-3-one (PubMed:23685396, PubMed:29277707). {ECO:0000250|UniProtKB:P15393, ECO:0000269|PubMed:12530636, ECO:0000269|PubMed:1518866, ECO:0000269|PubMed:1775135, ECO:0000269|PubMed:18215163, ECO:0000269|PubMed:23322723, ECO:0000269|PubMed:23685396, ECO:0000269|PubMed:29277707, ECO:0000305|PubMed:23322723}.
uniprot
proteins
mass_dalton
57573
uniprot
proteins
pathway_participation
PATHWAY: Steroid biosynthesis; glucocorticoid biosynthesis. {ECO:0000269|PubMed:18215163}.; PATHWAY: Steroid hormone biosynthesis. {ECO:0000269|PubMed:18215163}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10391210
uniprot
proteins
pubmed
10599751
uniprot
proteins
pubmed
12530636
uniprot
proteins
pubmed
1518866
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16046588
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
1741400
uniprot
proteins
pubmed
1775135
uniprot
proteins
pubmed
18215163
uniprot
proteins
pubmed
20089618
uniprot
proteins
pubmed
20200334
uniprot
proteins
pubmed
2022736
uniprot
proteins
pubmed
20331679
uniprot
proteins
pubmed
20947076
uniprot
proteins
pubmed
23322723
uniprot
proteins
pubmed
23685396
uniprot
proteins
pubmed
23940125
uniprot
proteins
pubmed
2401360
uniprot
proteins
pubmed
24022297
uniprot
proteins
pubmed
24536089
uniprot
proteins
pubmed
24987415
uniprot
proteins
pubmed
2592361
uniprot
proteins
pubmed
26053152
uniprot
proteins
pubmed
26476331
uniprot
proteins
pubmed
29277707
uniprot
proteins
pubmed
3499608
uniprot
proteins
pubmed
7903314
uniprot
proteins
pubmed
9302260
uniprot
proteins
sequence_length
503
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P14137}; Peripheral membrane protein {ECO:0000250|UniProtKB:P14137}.
uniprot
proteins