Homo sapiens Gene: CYP11B1
Summary
InnateDB Gene IDBG-37905.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYP11B1
Gene Name cytochrome P450, family 11, subfamily B, polypeptide 1
Synonyms CPN1; CYP11B; FHI; P450C11;
Species Homo sapiens
Ensembl Gene ENSG00000160882
Encoded Proteins
cytochrome P450, family 11, subfamily B, polypeptide 1
cytochrome P450, family 11, subfamily B, polypeptide 1
cytochrome P450, family 11, subfamily B, polypeptide 1
cytochrome P450, family 11, subfamily B, polypeptide 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:142872356-142879846
Strand Reverse strand
Band q24.3
Transcripts
ENST00000292427 ENSP00000292427
ENST00000314111
ENST00000377675 ENSP00000366903
ENST00000519285 ENSP00000430144
ENST00000517471 ENSP00000428043
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004497 monooxygenase activity
GO:0004507 steroid 11-beta-monooxygenase activity
GO:0005506 iron ion binding
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037 heme binding
Biological Process
GO:0006700 C21-steroid hormone biosynthetic process
GO:0006704 glucocorticoid biosynthetic process
GO:0006705 mineralocorticoid biosynthetic process
GO:0006805 xenobiotic metabolic process
GO:0006955 immune response
GO:0008202 steroid metabolic process
GO:0008217 regulation of blood pressure
GO:0016125 sterol metabolic process
GO:0032342 aldosterone biosynthetic process
GO:0032870 cellular response to hormone stimulus
GO:0034651 cortisol biosynthetic process
GO:0035865 cellular response to potassium ion
GO:0042593 glucose homeostasis
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Metabolism of steroid hormones and vitamin D pathway
Cytochrome P450 - arranged by substrate type pathway
Endogenous sterols pathway
Metabolism pathway
Glucocorticoid biosynthesis pathway
Biological oxidations pathway
Phase 1 - Functionalization of compounds pathway
KEGG
Steroid hormone biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P15538
TrEMBL H0YBR4 Q4VAR0 Q8TE38 Q8TE40
UniProt Splice Variant
Entrez Gene 1584
UniGene Hs.184927
RefSeq NM_000497 NM_001026213 XM_005250807
HUGO HGNC:2591
OMIM 610613
CCDS CCDS34953 CCDS6392
HPRD
IMGT
EMBL AC083841 AJ431380 AJ431382 BC096285 BC096286 BC096287 CH471162 D10169 D16153 D16155 EU332839 M24667 M32863 M32878 M32879 X55764
GenPept AAA52148 AAA52149 AAH96285 AAH96286 AAH96287 ABY87528 BAA01039 BAA03717 BAB71992 CAA39290 CAD24088 CAD24090 EAW82293
RNA Seq Atlas 1584