CYP11B1 Gene
protein-coding GIFtS: 66
GCID: GC08M143950
|
|
cytochrome P450, family 11, subfamily B, polypeptide 1(Previous names: cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase),...)
(Previous symbol: CYP11B)
| |
Aliases
for CYP11B1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cytochrome P450, Family 11, Subfamily B, Polypeptide 11 2 | | Steroid 11-Beta-Hydroxylase2 3 | | FHI1 2 5 | | CYPXIB12 3 | | P450C111 2 5 | | EC 1.14.15.43 8 | | CPN11 2 | | Cytochrome P450 11B1, Mitochondrial2 | | CYP11B1 2 | | Cytochrome P450 XIB12 | | Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 11 2 | | Steroid 11-Beta-Monooxygenase2 | | Cytochrome P-450c112 3 | | S11BH3 | | Cytochrome P450C112 3 | | EC 1.14.158 |
Export aliases for CYP11B1 gene to outside databasesPrevious GC identifers: GC08M142258 GC08M144187 GC08M143758 GC08M144016 GC08M139206 |
Summaries
for CYP11B1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CYP11B1:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins aremonooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids andother lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion ofprogesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: C11B1_HUMAN, P15538Function: Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation ofsteroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB
 summary
for CYP11B1: Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs
are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane.
CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate
and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential
for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They
are found at high levels in the liver, where they have an important role in metabolism of drugs and
endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this
accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,
cholesterol synthesis and vitamin D metabolism.
Gene Wiki entry for CYP11B1 (Steroid 11-beta-hydroxylase)
|
Genomic Views
for CYP11B1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008046.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CYP11B1 gene promoter:
Bach1 NF-1/L NF-1 GCNF Lmo2 YY1 HEN1 GCNF-1 GCNF-2 Ik-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CYP11B1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP11B1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q21 Ensembl cytogenetic band: 8q24.3 HGNC cytogenetic band: 8q21-q22CYP11B1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M143950: view genomic region
(about GC identifiers)
Start:
|
143,953,772 bp from pter |
End:
|
143,961,262 bp from pter |
Size:
|
7,491 bases |
Orientation:
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minus strand |
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Proteins
for CYP11B1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: C11B1_HUMAN, P15538 (See
protein sequence)Recommended Name: Cytochrome P450 11B1, mitochondrial precursor Size: 503 amino acids; 57573 Da
Cofactor: Heme group (By similarity)
Subcellular location: Mitochondrion membrane
Secondary accessions: Q14095 Q4VAQ8 Q4VAQ9 Q9UML2Alternative splicing: 2 isoforms: P15538-1 P15538-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CYP11B1: NX_P15538
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P15538
4/8 DME Specific Peptides for CYP11B1 (P15538) (see all 8)
CYP11B1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000488.3 NP_001021384.1
ENSEMBL proteins: ENSP00000430144 ENSP00000292427 ENSP00000428043 ENSP00000366903 Reactome Protein details: P15538
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
CYP11B1 for ontologies About GeneDecksing
CYP11B1 Antibody Products:
Assay Products for CYP11B1: |
Protein
Domains /
Families
for CYP11B1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CYP11B1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P15538ProtoNet protein and cluster: P15538 1 Blocks protein family: IPB002399 Mitochondrial P450 clan signature
UniProtKB/Swiss-Prot: C11B1_HUMAN, P15538Similarity: Belongs to the cytochrome P450 family |
Function
for CYP11B1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: C11B1_HUMAN, P15538Function: Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation ofsteroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIBCatalytic activity: A steroid + reduced adrenal ferredoxin + O(2) = an 11-beta-hydroxysteroid + oxidized adrenalferredoxin + H(2)O Genatlas biochemistry entry for CYP11B1:cytochrome p450,subfamily XIB,polypeptide 1,steroid 11 beta-hydroxylase,mitochondrial,involved in glucocorticoidbiosynthesis,stimulated by corticotropin,expressed in zona fasciculata of the adrenal cortex
Enzyme Numbers (IUBMB): EC 1.14.15.41 2 EC 1.14.152
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP11B1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP11B1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for CYP11B1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP11B1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP11B1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004497 | monooxygenase activity |
-- | -- | | GO:0004507 | steroid 11-beta-monooxygenase activity |
IMP | 2022736 | | GO:0005506 | iron ion binding |
IEA | -- | | GO:0009055 | electron carrier activity |
IEA | -- | | GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen |
-- | -- |
CYP11B1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CYP11B1:
Animal Models:
10 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Cyp11b1):
CYP11B1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CYP11B1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cytochrome P450 - arranged by substrate type | | | 2 | Metabolism | | | 3 | Mineralocorticoid biosynthesis | | | 4 | Glucocorticoid biosynthesis | | | 5 | Biological oxidations | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for CYP11B1
1  GeneGo (Thomson Reuters) Pathway for CYP11B1
4  BioSystems Pathways for CYP11B1
5/10 
Reactome Pathways for CYP11B1 (see all 10)
2 
Kegg Pathways (Kegg details for CYP11B1):
CYP11B1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP11B1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 16)
5/16 Interacting proteins for CYP11B1 (P155383 ENSP000002924274) via UniProtKB, MINT, STRING, and/or I2D (see all 16)About this table
Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table
CYP11B1 for ontologies About GeneDecksing
|
Drugs & Compounds
for CYP11B1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CYP11B1 for compounds About GeneDecksing
Compounds for CYP11B1 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| Metyrapone | 11-beta hydroxylase inhibitor | [54-36-4] |
10/21 HMDB Compounds for CYP11B1 (see all 21) About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| Cortexolone | 11-Deoxy-17-hydroxycorticosterone (see all 21) | 152-58-9 | 1775135 | | Deoxycorticosterone | 11-Dehydroxycorticosterone (see all 21) | 64-85-7 | 1775135 | | 11b,17a,21-Trihydroxypreg-nenolone | 11beta,17alpha,21-Trihydroxypregnenolone (see all 2) | -- | -- | | 11b-Hydroxyandrost-4-ene-3,17-dione | Androst-4-ene-3,17-dione-11beta-ol (see all 3) | 382-44-5 | -- | | 11b-Hydroxyprogesterone | 11b-Hydroxyprogesterone (see all 7) | 600-57-7 | -- | | 11beta-Hydroxyprogesterone | | -- | -- | | 17-Hydroxyprogesterone | 17-OHP (see all 15) | 68-96-2 | -- | | 17a,21-Dihydroxypreg-nenolone | 17alpha,21-Dihydroxypregnenolone (see all 2) | 1167-48-2 | -- | | 18-Hydroxycorticosterone | 11b,18,21-trihydroxy-pregn-4-ene-3,20-dione (see all 2) | 561-65-9 | -- | | 19-Hydroxydeoxycorticosterone | 11-deoxy-19-hydroxycorticosterone;11-desoxy-19-hydroxycorticosterone;19,21-dihydroxy-4-pregnene-3,20-dione;19,21-dihydroxypregn-4-ene-3,20-dione;19-Hydroxy-11-deoxycorticosterone;19-Hydroxy-11-desoxycorticosterone | 2394-23-2 | -- |
10/14 DrugBank Compounds for CYP11B1 (see all 14) About this table
10/38 Novoseek chemical compound relationships for CYP11B1 gene (see all 38) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 11 deoxycortisol |
91.5 |
14 |
8530633 (1), 1775135 (1), 10559665 (1), 15755848 (1) (see all 12) |
| 18-oxocortisol |
91.5 |
5 |
8800594 (2), 1741400 (2), 10994747 (1) |
| 18-hydroxycorticosterone |
89.1 |
4 |
2298865 (1), 10411633 (1), 8123004 (1) |
| 18-hydroxycortisol |
88 |
3 |
15062555 (2), 10994747 (1) |
| doca |
86.2 |
8 |
7673111 (1), 16105656 (1), 2298865 (1), 1775135 (1) (see all 8) |
| 18-hydroxydeoxycorticosterone |
77.4 |
1 |
11549669 (1) |
| acth |
76.6 |
32 |
11903322 (2), 11595502 (2), 10994747 (2), 1310416 (1) (see all 24) |
| steroid |
73.8 |
51 |
16024935 (2), 15807871 (2), 11443188 (2), 8088295 (2) (see all 40) |
| pcb 126 |
71.9 |
17 |
16396990 (5), 17350062 (4), 15703266 (2) |
| 3beta-hydroxysteroid |
66.8 |
8 |
11701663 (1), 9880115 (1), 16981135 (1), 16973756 (1) (see all 8) |
Search CenterWatch for drugs/clinical trials and news about CYP11B1 / C11B1
|
Transcripts
for CYP11B1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CYP11B1 gene (2 alternative transcripts): NM_000497.3 NM_001026213.1 Unigene Cluster for CYP11B1: Cytochrome P450, family 11, subfamily B, polypeptide 1 Hs.184927 [show with all ESTs]Unigene Representative Sequence: NM_0004975 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000314111(uc003yxh.3 uc003yxi.3 uc003yxj.3 uc010mey.3)
ENST00000519285(uc010mex.3) ENST00000292427 ENST00000517471 ENST00000377675
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP11B1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP11B1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): CYP11B1 (NM_001026213) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP11B1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP11B1 |
Additional cDNA sequence: AF478474.1 BC096285.3 BC096286.3 BC096287.3 BX647738.1 M24667.1 X55764.1 13 DOTS entries: DT.92430889 DT.102825805 DT.99996152 DT.40286765 DT.92430900 DT.101957314 DT.95070826 DT.121479667 DT.121479688 DT.92430899 DT.95141897 DT.121479682 DT.92430898 24/89 AceView cDNA sequences (see all 89): AA564584 AV709131 BX642335 AV709464 AF478474 AA605202 AV707112 AI791941 BV183625 AV708822 AV709422 AW269741 BX509275 CD608631 AV705864 BX102391 CF529849 AV710319 AV708476 AV704246 AA576580 AV703325 CF529617 X55764
GeneLoc Exon Structure
|
Expression
for CYP11B1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CYP11B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See CYP11B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP11B1
SOURCE GeneReport for Unigene cluster: Hs.184927
SABiosciences Expression via Pathway-Focused PCR Array including CYP11B1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP11B1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CYP11B1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP11B1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP11B1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP11B1 |
Orthologs
for CYP11B1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CYP11B1 gene from 4/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
50(a) |
1 → many |
AAWZ02036987(6150-16154) |
zebrafish
(Danio rerio) |
Actinopterygii |
cyp11c16 |
cytochrome P450, family 11, subfamily C, polypepti... |
32(a) |
1 → many |
16(57904611-57917200) |
fruit fly
(Drosophila melanogaster) |
Insecta |
Cyp12c13 |
cytochrome P450 |
29(a) |
|
75D6 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
ccp-443 |
cytochrome p450 |
26(a) |
|
II(5504020-5505870) -- |
ENSEMBL Gene Tree for CYP11B1 (if available)
TreeFam Gene Tree for CYP11B1 (if available) |
Paralogs
for CYP11B1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CYP11B1 gene
- CYP11A12 CYP27A12 CYP24A12 CYP11B22 CYP27C12 CYP27B12
8 SIMAP similar genes for CYP11B1 using alignment to 9 protein entries: C11B1_HUMAN (see all proteins):CYP11B2 CYP11A1 CYP3A5 CYP24 CYP24A1 CYP27C1
CYP27B1 CYP2E1
CYP11B1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for CYP11B1
PGOHUM00000249518
|
Genomic Variants
for CYP11B1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CYP11B1 (143953772 - 143961262 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CYP11B1
2 CNVs: 22916 52419
Human Gene Mutation Database (HGMD): CYP11B1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP11B1 |
|
Disorders
/ Diseases
for CYP11B1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CYP11B1 for disorders About GeneDecksing
OMIM gene information: 610613
OMIM disorders: 202010 103900
UniProtKB/Swiss-Prot: C11B1_HUMAN, P15538
Defects in CYP11B1 are the cause of adrenal hyperplasia type 4 (AH4) [MIM:202010]. AH4 is a form of congenitaladrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasiais characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth duringchildhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: "saltwasting" (SW, the most severe type), "simple virilizing" (SV, less severely affected patients), with normalaldosterone biosynthesis, "non-classic form" or late onset (NC or LOAH), and "cryptic" (asymptomatic). AH4 patientsusually have hypertension Defects in CYP11B1 are a cause of familial hyperaldosteronism type 1 (FH1) [MIM:103900]. It is a disordercharacterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals neverdevelop hypertension. Note=The molecular defect causing hyperaldosteronism familial type 1 is an anti-Lepore-typefusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and thecoding part of CYP11B2
20/37  diseases for CYP11B1 (see all 37): About MalaCards11-beta-hydroxylase deficiency adrenal hyperplasia 11-beta-hydroxylase-deficient congenital adrenal hyperplasia glucocorticoid-remediable aldosteronism
21-hydroxylase deficiency cholesterol patent ductus arteriosus hyperaldosteronism
familial hyperaldosteronism cushing's syndrome tumors of adrenal cortex adrenal adenoma
congestive heart failure pelvic inflammatory disease iridocyclitis aldosteronism
virilization polycystic ovary syndrome essential hypertension atrial fibrillation
6 diseases from the University of Copenhagen DISEASES database for CYP11B1:Hyperaldosteronism Conn's syndrome Iridocyclitis Hypertension
Cushing's syndrome Adenoma 10/20 Novoseek disease relationships for CYP11B1 gene (see all 20) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| glucocorticoid-remediable aldosteronism |
95.5 |
25 |
11600544 (2), 11903322 (1), 10843166 (1), 15941863 (1) (see all 19) |
| adrenal hyperplasia congenital |
90.4 |
44 |
15755848 (2), 11443188 (2), 8506298 (2), 8088295 (2) (see all 34) |
| hyperaldosteronism |
89.1 |
21 |
9745430 (2), 10994747 (2), 15062555 (1), 11128865 (1) (see all 16) |
| aldosteronism primary |
85.5 |
9 |
1820978 (2), 20339375 (2), 10566677 (1), 7882585 (1) (see all 7) |
| adrenal hyperplasia |
78.3 |
3 |
9302260 (1), 7758082 (1), 11443188 (1) |
| adenoma adrenocortical |
76.1 |
3 |
1820978 (2), 1535042 (1) |
| virilization |
70.7 |
3 |
1879383 (1), 11964027 (1), 18663314 (1) |
| adrenal tumor |
69.3 |
3 |
1775135 (1), 19564722 (1), 2401360 (1) |
| cushing syndrome |
62 |
5 |
19564722 (2), 12608705 (1), 20200334 (1) |
| adenoma |
59.7 |
18 |
1535042 (2), 12457455 (2), 19915020 (2), 7588406 (1) (see all 13) |
Genetic Association Database (GAD): CYP11B1
Human Genome Epidemiology (HuGE) Navigator: CYP11B1 (34 documents)
Export disorders for CYP11B1 gene to outside databases
|
Publications
for CYP11B1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CYP11B1 gene, integrated from 9 sources (see all 274):
(articles sorted by number of sources associating them with CYP11B1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency. (PubMed id 7903314)1, 2, 9 Naiki Y.... Shizuta Y. (1993)
- A mutation in CYP11B1 (Arg-448-->His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. (PubMed id 2022736)1, 2, 9 White P.C....Roesler A. (1991)
- Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production. (PubMed id 15062555)1, 4, 9 Nicod J....Ferrari P. (2004)
- CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. (PubMed id 9302260)1, 2, 9 Joehrer K.... White P.C. (1997)
- Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans. (PubMed id 1741400)1, 2, 9 Kawamoto T....Shuzuta Y. (1992)
- CYP11B2-CYP11B1 haplotypes associated with decreased 11 beta-hydroxylase activity. (PubMed id 15507509)1, 4, 9 Ganapathipillai S....Ferrari P. (2005)
- Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. (PubMed id 16110193)1, 4, 9 Adler G....Ciechanowicz A. (2005)
- Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. (PubMed id 16030166)1, 4, 9 Paperna T....Hochberg Z. (2005)
- Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. (PubMed id 1303253)1, 3, 9 Lifton R.P....Laidlaw J.C. (1992)
- Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta. (PubMed id 2401360)1, 2, 9 Kawamoto T.... Shizuta Y. (1990)
|
External Searches for CYP11B1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing CYP11B1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CYP11B1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CYP11B1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CYP11B1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP11B1 |
|
| | |
About This Section
| Patent Information for CYP11B1 gene:
Search GeneIP for patents involving CYP11B1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CYP11B1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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|
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 |
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