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

Gene ID: 1584, updated on 22-Jan-2020

Summary

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
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

Genomic context

See CYP11B1 in Genome Data Viewer
Location:
8q24.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (142872357..142879825, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143953773..143961236, 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36771, DKFZp686B05283

Gene Ontology Provided by GOA

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

General protein information

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
steroid 11-beta-hydroxylase, CYP11B1
steroid 11-beta-monooxygenase
NP_000488.3
NP_001021384.1

NCBI Reference Sequences (RefSeq)

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
    5001..12464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000497.4NP_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
    UniProtKB/TrEMBL
    Q8TDD0
    Related
    ENSP00000292427.4, ENST00000292427.9
    Conserved Domains (1) summary
    pfam00067
    Location:42454
    p450; Cytochrome P450
  2. NM_001026213.1NP_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/Swiss-Prot
    P15538
    Related
    ENSP00000428043.1, ENST00000517471.5
    Conserved Domains (1) summary
    pfam00067
    Location:42400
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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