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

Gene ID: 1584, updated on 27-Nov-2024

Summary

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Official Symbol
CYP11B1provided by HGNC
Official Full Name
cytochrome P450 family 11 subfamily B member 1provided by HGNC
Primary source
HGNC:HGNC:2591
See related
Ensembl:ENSG00000160882 MIM:610613; AllianceGenome:HGNC:2591
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHI; CPN1; CYP11B; P450C11
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]
Expression
Restricted expression toward adrenal (RPKM 1098.5) See more
Orthologs
all
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Genomic context

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See CYP11B1 in Genome Data Viewer
Location:
8q24.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142872357..142879825, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144015692..144023160, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143953773..143961241, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene glycosylphosphatidylinositol anchored molecule like Neighboring gene zinc finger HIT-type containing 1 pseudogene 1 Neighboring gene CYP11B1 recombination region Neighboring gene CYP11B1 promoter Neighboring gene CYP11B2 recombination region Neighboring gene cytochrome P450 family 11 subfamily B member 2 Neighboring gene CYP11B2 promoter Neighboring gene uncharacterized LOC105375794

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. Motaghedi R, et al. J Pediatr Endocrinol Metab, 2005 Feb. PMID 15751602
  2. Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency. Wang X, et al. Steroids, 2015 Aug. PMID 25911436
  3. Divergent gender identity in three siblings with 46XX karyotype and severely virilizing congenital adrenal hyperplasia caused by a novel CYP11B1 mutation. Bin-Abbas B, et al. Endocr Pract, 2014 Oct. PMID 25100385
  4. The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population. Loidi L, et al. J Clin Endocrinol Metab, 1999 Dec. PMID 10599751
  5. Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency. Polat S, et al. Eur J Endocrinol, 2014 May. PMID 24536089

See all (128) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
    Title: Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
  2. [Analysis of a family with 11beta-hydroxylase deficiency due to a mutation in the CYP11B1 gene].
    Title: [Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].
  3. Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
    Title: Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
  4. Molecular analysis of 12 Chinese patients with 11beta-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
    Title: Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
  5. Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease.
    Title: Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease.
  6. Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism.
    Title: Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism.
  7. Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.
    Title: Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.
  8. GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.
    Title: GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.
  9. CYP11B1 variants influence skeletal maturation via alternative splicing.
    Title: CYP11B1 variants influence skeletal maturation via alternative splicing.
  10. 11beta-Hydroxylase (CYP11B1) gene variants and new-onset depression in later life.
    Title: 11β-Hydroxylase (CYP11B1) gene variants and new-onset depression in later life.
Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Deficiency of steroid 11-beta-monooxygenase
MedGen: C0268292 OMIM: 202010 GeneReviews: Not available
Compare labs
Glucocorticoid-remediable aldosteronism
MedGen: C3838731 OMIM: 103900 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36771, DKFZp686B05283

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables corticosterone 18-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables heme binding IC
Inferred by Curator
more info
 PubMed 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables steroid 11-beta-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables steroid 11-beta-monooxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables steroid 11-beta-monooxygenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables steroid 11-beta-monooxygenase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in C21-steroid hormone biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in aldosterone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in aldosterone biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in aldosterone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to hormone stimulus IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in cellular response to peptide hormone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to potassium ion IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cortisol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cortisol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cortisol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glucocorticoid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glucocorticoid biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in glucose homeostasis TAS
Traceable Author Statement
more info
 PubMed 
involved_in immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of blood pressure IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sterol metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane IC
Inferred by Curator
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cytochrome P450 11B1, mitochondrial
Names
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-beta-hydroxylase, CYP11B1
steroid 11-beta-monooxygenase
NP_000488.3
NP_001021384.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007954.1 RefSeqGene

    Range
    4996..12464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000497.4 → NP_000488.3  cytochrome P450 11B1, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000488.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC083841, AF478474, BX647738, X55764
    Consensus CDS
    CCDS6392.1
    UniProtKB/Swiss-Prot
    P15538, Q14095, Q4VAQ8, Q4VAQ9, Q9UML2
    UniProtKB/TrEMBL
    Q8TDD0
    Related
    ENSP00000292427.5, ENST00000292427.10
    Conserved Domains (1) summary
    pfam00067
    Location:42 → 454
    p450; Cytochrome P450

  2. NM_001026213.1 → NP_001021384.1  cytochrome P450 11B1, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001021384.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to transcript variant 1. This results in an isoform (2) that is missing a 66 aa segment compared to isoform 1.
    Source sequence(s)
    BC096286, BC096287, BX647738
    Consensus CDS
    CCDS34953.1
    UniProtKB/TrEMBL
    Q8TDD0
    Related
    ENSP00000428043.1, ENST00000517471.5
    Conserved Domains (1) summary
    pfam00067
    Location:42 → 400
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    142872357..142879825 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    144015692..144023160 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P15538.5 GenPept UniProtKB/Swiss-Prot:P15538

Gene LinkOut

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