• Gene id: 1584

Gene Summary

• Gene Symbol: CYP11B1   Gene   UCSC   Ensembl
• Aliases: CPN1, CYP11B, FHI, P450C11
• Gene name: cytochrome P450 family 11 subfamily B member 1
• Alternate names: cytochrome P450 11B1, mitochondrial, CYPXIB1, cytochrome P-450c11, cytochrome P450, family 11, subfamily B, polypeptide 1, cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1, cytochrome P450C11, cytochrome p450 XIB1, steroid 11-be,
• Gene location: 8q24.3 (142879819: 142872356)     Exons: 9     NC_000008.11
• Gene summary(Entrez): 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 local
• OMIM: 610613

Protein Summary

• Protein general information: P15538  
  • Name: Cytochrome P450 11B1, mitochondrial (CYPXIB1) (Cytochrome P 450c11) (Cytochrome P450C11) (Steroid 11 beta hydroxylase) (EC 1.14.15.4)
  • Length: 503  
  • Mass: 57,573
• Sequence:

  MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQEL
  GPIFRYDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLS
  PNAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLH
  ALEVMFKSTVQLMFMPRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELS
  PDAIKANSMELTAGSVDTTVFPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRL
  YPVGLFLERVASSDLVLQNYHIPAGTLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMRQC
  LGRRLAEAEMLLLLHHVLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002399  IPR036396  
  • Prosite: PS00086
  • STRING: ENSP00000292427
• Other Databases: GeneCards:  CYP11B1  Malacards:  CYP11B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004507	steroid 11-beta-monooxygenase activity	IMP	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0008217	regulation of blood pressure	IMP	biological process
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0020037	heme binding	IC	molecular function
GO:0032342	aldosterone biosynthetic process	IMP	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032870	cellular response to hormone stimulus	IEP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0034651	cortisol biosynthetic process	IDA	biological process
GO:0035865	cellular response to potassium ion	IEP	biological process
GO:0042593	glucose homeostasis	TAS	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0047783	corticosterone 18-monooxygenase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IEA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IMP	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0008217	regulation of blood pressure	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0020037	heme binding	IC	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0032342	aldosterone biosynthetic process	IMP	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032870	cellular response to hormone stimulus	IEP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0034651	cortisol biosynthetic process	IDA	biological process
GO:0035865	cellular response to potassium ion	IEP	biological process
GO:0042593	glucose homeostasis	TAS	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0047783	corticosterone 18-monooxygenase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process
GO:0004507	steroid 11-beta-monooxygenase activity	IMP	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	TAS	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0008217	regulation of blood pressure	IMP	biological process
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0020037	heme binding	IC	molecular function
GO:0032342	aldosterone biosynthetic process	IMP	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032870	cellular response to hormone stimulus	IEP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0034651	cortisol biosynthetic process	IDA	biological process
GO:0035865	cellular response to potassium ion	IEP	biological process
GO:0042593	glucose homeostasis	TAS	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0047783	corticosterone 18-monooxygenase activity	IBA	molecular function
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04927	Cortisol synthesis and secretion
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Cancer	GAD: 18636124
Cancer (lymphoma)	GAD: 18636124
Cancer (breast)	GAD: 20214802
Cardiovascular disease	GAD: 19082699
Hypertension	GAD: 16110193
Congenital abnormalities	GAD: 16030166
Primary ciliary dyskinesia	KEGG: H00564
Aldosteronism	OMIM: 610613
Bone diseases	GAD: 19453261
Autism	GAD: 19598235
Primary infertility	INFBASE: 17124386
Bilateral cryptorchidism	MIK: 3501279
Male factor infertility	MIK: 3501279
Precocious puberty	MIK: 17124386
11-beta-hydroxylase deficiency	OMIM: 610613
Congenital adrenal hyperplasia	OMIM: 610613
Chronic renal failure	GAD: 21085059
Congenital adrenal hyperplasia (CAH)	MIK: 23940125
Cryptorchidism	MIK: 28606200
Precocious pseudopubarche	MIK: 17124386
Primary infertility	MIK: 17124386
Mild hirsutism	MIK: 17124386
Teratozoospermia	MIK: 17327269
Bilateral cryptorchidism	MIK: 3501279

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23940125	Congenital adrenal hyperplasia (CAH)	Patient 1(g.235T>A, p.F79I/g.2608C>T, p.R138C), Patient 2 (g.2623C>T, p.R143W)		2 (1 unexplained adrenarche, 1 facial hirsutism, primary amenorrhea)	Male infertility, Female infertility
17124386	Precocious pseudopubarche, congenital adrenal hyperplasia, primary infertility, mild hirsutism	L489S in CYP11B1	Turkish	2 precocious pseudopubarche, 1 with primary infertility and mild hirsutism	Male infertility, Female infertility
3501279	Bilateral cryptorchidism, congenital adrenal hyperplasia			1 congenital adrenal hyperplasia	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq