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CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000497 Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001026213 Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005250807 PREDICTED: Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol CYP11B1
Entrez Gene ID 1584
Full Name cytochrome P450, family 11, subfamily B, polypeptide 1
Synonyms CPN1, CYP11B, FHI, P450C11
General protein information
Preferred Names
cytochrome P450 11B1, mitochondrial
Names
cytochrome P450 11B1, mitochondrial
CYPXIB1
cytochrome P450C11
cytochrome P-450c11
cytochrome p450 XIB1
steroid 11-beta-hydroxylase
steroid 11-beta-monooxygenase
cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1
NP_000488.3
NP_001021384.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8q21

Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008].
Disorder

MIM: 610613

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase

mRNA Protein Product Sequence Price Select
NM_000497, 61743917 NP_000488, 61743918 cytochrome P450 11B1, mitochondrial isoform 1 precursor ORF Sequence $360.00
NM_001026213, 71067342 NP_001021384, 71067343 cytochrome P450 11B1, mitochondrial isoform 2 precursor ORF Sequence $550.00
XM_005250807, 530388791 XP_005250864, 530388792 cytochrome P450 11B1, mitochondrial isoform X1 ORF Sequence $700.00
KEGG
hsa00140Steroid hormone biosynthesis
hsa_M00109C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone
hsa_M00108C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone
WikiPathways
WP43cytochrome P450
WP702metapathway biotransformation
WP2355Corticotropin-releasing hormone
BIOCYC
META_PWY66-382mineralocorticoid biosynthesis
META_PWY66-381glucocorticoid biosynthesis
HUMAN_PWY66-381glucocorticoid biosynthesis
HUMAN_PWY66-382mineralocorticoid biosynthesis
META_PWY-7305superpathway of steroid hormone biosynthesis
Reactome
REACT_13433Biological oxidations
REACT_13567Cytochrome P450 - arranged by substrate type
REACT_13812Endogenous sterols
REACT_13705Phase 1 - Functionalization of compounds
REACT_11047Mineralocorticoid biosynthesis
REACT_11057Metabolism of steroid hormones and vitamin D
REACT_11036Glucocorticoid biosynthesis
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)CYP11B1NP_000488.3
Pan troglodytes (chimpanzee)LOC464437XP_519994.3
Macaca mulatta (Rhesus monkey)CYP11B1XP_001084565.1
Mus musculus (house mouse)Cyp11b2NP_034121.3
Rattus norvegicus (Norway rat)Cyp11b2NP_036670.2
Danio rerio (zebrafish)cyp11c1NP_001073673.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC101731070XP_004920081.1
Process
IDNameEvidence
GO:0006700C21-steroid hormone biosynthetic processIDA
GO:0006704glucocorticoid biosynthetic processTAS
GO:0006705mineralocorticoid biosynthetic processTAS
GO:0006805xenobiotic metabolic processTAS
GO:0006955immune responseTAS
GO:0008202steroid metabolic processTAS
GO:0008217regulation of blood pressureIMP
GO:0016125sterol metabolic processTAS
GO:0032342aldosterone biosynthetic processIDA
GO:0032342aldosterone biosynthetic processIMP
GO:0032870cellular response to hormone stimulusIEP
GO:0034651cortisol biosynthetic processIDA
GO:0034651cortisol biosynthetic processIMP
GO:0035865cellular response to potassium ionIEP
GO:0042593glucose homeostasisTAS
GO:0044281small molecule metabolic processTAS
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005743mitochondrial inner membraneIC
GO:0005743mitochondrial inner membraneTAS
Function
IDNameEvidence
GO:0004507steroid 11-beta-monooxygenase activityIDA
GO:0004507steroid 11-beta-monooxygenase activityIMP
GO:0005506iron ion bindingIEA
GO:0020037heme bindingIC
GeneCards CYP11B1
UniProt P15538, Q4VAR0, Q8TDD0
Vega OTTHUMG00000164637
MIM 610613
Ensembl ENSG00000160882
HGNC 2591
HPRD 01943

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CYP11B1 gene?

The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, which are located on top of the kidneys. The 11-beta-hydroxylase enzyme is a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules within cells.

The 11-beta-hydroxylase enzyme helps produce hormones called cortisol and corticosterone. Specifically, the enzyme helps convert a molecule called 11-deoxycortisol to cortisol, and helps convert another molecule called 11-deoxycorticosterone to corticosterone. These processes are triggered by the release of a hormone called adrenocorticotropic hormone (ACTH) by the pituitary gland, located at the base of the brain.

Cortisol helps maintain blood sugar levels, protects the body from physical stress, and suppresses inflammation. Corticosterone is converted to the hormone aldosterone by the aldosterone synthase enzyme, which is produced from the nearby CYP11B2 gene. Aldosterone helps control blood pressure by maintaining proper salt and fluid levels in the body.

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