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

    Gene ID: 1584, updated on 28-Oct-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 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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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