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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP11B1 Gene

protein-coding   GIFtS: 67
GCID: GC08M143950

Cytochrome P450, Family 11, Subfamily B, Polypeptide 1

(Previous names: cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase),...)
(Previous symbol: CYP11B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome P450, Family 11, Subfamily B, Polypeptide 11 2     EC 1.14.15.43 8
CYP11B1 2     FHI2 5
Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide
11 2
     P450C112 5
Steroid 11-Beta-Monooxygenase1 2     CPN12
Cytochrome P-450c112 3     Cytochrome P450 11B1, Mitochondrial2
Cytochrome P450C112 3     Cytochrome P450 XIB12
Steroid 11-Beta-Hydroxylase2 3     S11BH3
CYPXIB12 3     EC 1.14.158

External Ids:    HGNC: 25911   Entrez Gene: 15842   Ensembl: ENSG000001608827   OMIM: 6106135   UniProtKB: P155383   

Export aliases for CYP11B1 gene to outside databases

Previous GC identifers: GC08M142258 GC08M144187 GC08M143758 GC08M144016 GC08M139206


(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 Gene:
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)

GeneCards Summary for CYP11B1 Gene: 
CYP11B1 (cytochrome P450, family 11, subfamily B, polypeptide 1) is a protein-coding gene. Diseases associated with CYP11B1 include hyperaldosteronism, and familial hyperaldosteronism, and among its related super-pathways are Glucocorticoid biosynthesis and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP11A1.

UniProtKB/Swiss-Prot: C11B1_HUMAN, P15538
Function: Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of
steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB

summary for CYP11B1 Gene:
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) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
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

SwitchGear Promoter luciferase reporter plasmidCYP11B1 promoter sequence
   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-q22

CYP11B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP11B1 gene location

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:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 Q9UML2
Alternative splicing: 2 isoforms:  P15538-1   P15538-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP11B1: NX_P15538

Explore proteomics data for CYP11B1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15538

  • 4/8 DME Specific Peptides for CYP11B1 (P15538) (see all 8)
     RQCLGRR  IPAGTLV  AGSVDTT  VQQALRQES 

    CYP11B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP11B1 Protein Expression
    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 for CYP11B1: 
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    Novus Biologicals CYP11B1 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CYP11B1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA2256920
    GO:0005743mitochondrial inner membrane TAS15026188

    CYP11B1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP11B1 
    CYP11, CYP17, CYP19, CYP20 and CYP21 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002399 Cyt_P450_mitochondrial

    Graphical View of Domain Structure for InterPro Entry P15538

    ProtoNet protein and cluster: P15538

    1 Blocks protein domain: IPB002399 Mitochondrial P450 clan signature

    UniProtKB/Swiss-Prot: C11B1_HUMAN, P15538
    Similarity: Belongs to the cytochrome P450 family


    CYP11B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C11B1_HUMAN, P15538
    Function: Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of
    steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB
    Catalytic activity: A steroid + reduced adrenodoxin + O(2) = an 11-beta-hydroxysteroid + oxidized adrenodoxin +
    H(2)O

         Genatlas biochemistry entry for CYP11B1:
    cytochrome p450,subfamily XIB,polypeptide 1,steroid 11 beta-hydroxylase,mitochondrial,involved in glucocorticoid
    biosynthesis,stimulated by corticotropin,expressed in zona fasciculata of the adrenal cortex

         Enzyme Numbers (IUBMB): EC 1.14.15.41 2 EC 1.14.152

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0004507steroid 11-beta-monooxygenase activity IMP2022736
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
         
    CYP11B1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CYP11B1:
     Synthetic lethal with Ras 

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp11b1):
     adipose tissue  cardiovascular system  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  nervous system  renal/urinary system  reproductive system 

    CYP11B1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP11B1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYP11B1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP11B1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Mineralocorticoid biosynthesis
    Mineralocorticoid biosynthesis0.71
    mineralocorticoid biosynthesis0.60
    Glucocorticoid biosynthesis0.71
    glucocorticoid biosynthesis0.50
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    5Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CYP11B1
        Estrogen biosynthesis


    1 GeneGo (Thomson Reuters) Pathway for CYP11B1
        Estrogen biosynthesis

    4 BioSystems Pathways for CYP11B1
        cytochrome P450
    glucocorticoid biosynthesis
    mineralocorticoid biosynthesis
    metapathway biotransformation

    5/10        Reactome Pathways for CYP11B1 (see all 10)
        Cytochrome P450 - arranged by substrate type
    Mineralocorticoid biosynthesis
    Metabolism
    Steroid hormones
    Endogenous sterols


    2         Kegg Pathways  (Kegg details for CYP11B1):
        Steroid hormone biosynthesis
    Metabolic pathways


    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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP11B2P190993, ENSP000003258224I2D: score=1 STRING: ENSP00000325822
    CYP17A1ENSP000003589034STRING: ENSP00000358903
    CYP19A1ENSP000002604334STRING: ENSP00000260433
    ENSG00000232414ENSP000004165984STRING: ENSP00000416598
    HSD11B1ENSP000002614654STRING: ENSP00000261465
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006700C21-steroid hormone biosynthetic process IDA2256920
    GO:0006704glucocorticoid biosynthetic process TAS--
    GO:0006705mineralocorticoid biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0006950response to stress TAS12452430

    CYP11B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CYP11B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Metyrapone11-beta hydroxylase inhibitor[54-36-4]
    DMOGProlylhydroxylase inhibitor[89464-63-1]
    Ro 61-8048Potent kynurenine 3-hydroxylase inhibitor[199666-03-0]

    10/21 HMDB Compounds for CYP11B1 (see all 21)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cortexolone11-Deoxy-17-hydroxycorticosterone (see all 21)152-58-91775135
    Deoxycorticosterone11-Dehydroxycorticosterone (see all 21)64-85-71775135
    11b,17a,21-Trihydroxypreg-nenolone11beta,17alpha,21-Trihydroxypregnenolone (see all 2)----
    11b-Hydroxyandrost-4-ene-3,17-dioneAndrost-4-ene-3,17-dione-11beta-ol (see all 3)382-44-5--
    11b-Hydroxyprogesterone11b-Hydroxyprogesterone (see all 7)600-57-7--
    11beta-Hydroxyprogesterone ----
    17-Hydroxyprogesterone17-OHP (see all 15)68-96-2--
    17a,21-Dihydroxypreg-nenolone17alpha,21-Dihydroxypregnenolone (see all 2)1167-48-2--
    18-Hydroxycorticosterone11b,18,21-trihydroxy-pregn-4-ene-3,20-dione (see all 2)561-65-9--
    19-Hydroxydeoxycorticosterone11-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
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MetyraponeMepyrapone (see all 9)54-36-4targetinhibitor17487473 11869873 17462829 11752352
    enzymeinhibitor17487473 11869873 17462829 11752352 19934256
    Aldosterone(+)-aldosterone (see all 18)52-39-1enzymesubstrate19934256
    Cimetidine-- 51481-61-9enzymeinhibitor19934256
    ClotrimazoleChlotrimazole (see all 2)23593-75-1enzymeinhibitor19934256
    Etomidate-- 33125-97-2enzymeinhibitor19934256
    Fluconazole-- 86386-73-4enzymeinhibitor19934256
    Hydrocortisone11beta-Hydroxycortisone (see all 16)50-23-7enzymesubstrate19934256
    Ketoconazole2% (see all 6)65277-42-1enzymeinhibitor19934256
    MetoclopramideMetaclopramide (see all 9)364-62-5enzymeinhibitor19934256
    Mibefradil-- 116644-53-2enzymeinhibitor19934256

    10/38 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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_000497
    5 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

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    Additional mRNA 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):

    AV709464 AV709131 AI791941 AA564584 AV707112 AF478474 BX642335 AA605202 
    CD608634 AV709338 AA576580 AW269741 AV702884 AV708822 AV707508 AV709422 
    BX102391 AV709613 CF529617 AV705120 AK094090 CD608629 AV705864 BX642334 

    GeneLoc Exon Structure


    (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)      CYP11B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CYP11B1 Expression
    About this image


    CYP11B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Uterus
             uterus, pre-menopause ; glandular cells   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Adrenal Gland (Endocrine System)    fully expand to see all 3 entries
             adrenal gland ; glandular cells   
             adrenal cortex   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    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: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (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 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp11b15
    Cyp11b21
    cytochrome P450, family 11, subfamily b, polypeptide more1, 5 74.87(n)1
    68.2(a)1
      15 (34.29 cM)5
    130721  NM_009991.31  NP_034121.31 
     748348925 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    50(a)
    1 → many
    AAWZ02036987(3866-16154)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP11B1 gene
    CYP11A12  CYP27A12  CYP24A12  CYP27C12  CYP11B22  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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/535 SNPs in CYP11B1 are shown (see all 535)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0656664
    Adrenal hyperplasia 4 (AH4)4--see VAR_0656662 P L mis40--------
    VAR_0012604
    Adrenal hyperplasia 4 (AH4)4--see VAR_0012602 P S mis40--------
    VAR_0012624
    Adrenal hyperplasia 4 (AH4)4--see VAR_0012622 T M mis40--------
    VAR_0012614
    Adrenal hyperplasia 4 (AH4)4--see VAR_0012612 N H mis40--------
    VAR_0651964
    Adrenal hyperplasia 4 (AH4)4--see VAR_0651962 G V mis40--------
    VAR_0012634
    Adrenal hyperplasia 4 (AH4)4--see VAR_0012632 T M mis40--------
    VAR_0012644
    Adrenal hyperplasia 4 (AH4)4--see VAR_0012642 R Q mis40--------
    VAR_0656674
    Adrenal hyperplasia 4 (AH4)4--see VAR_0656672 T R mis40--------
    VAR_0651974
    Adrenal hyperplasia 4 (AH4)4--see VAR_0651972 R C mis40--------
    rs289345861,2,4
    CAdrenal hyperplasia 4 (AH4)4 pathogenic1144231010(-) CATGCA/GCCAGT 3 H R mis1 int1 ese30--------

    HapMap Linkage Disequilibrium report for CYP11B1 (143953772 - 143961262 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CYP11B1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2673440CNV Deletion23128226
    esv991235CNV Deletion20482838
    esv2737938CNV Deletion23290073
    nsv436586CNV Deletion17901297
    esv2661137CNV Deletion23128226
    nsv891647CNV Loss21882294
    nsv470246CNV Loss18288195
    nsv891648CNV Loss21882294
    nsv520940CNV Gain19592680
    nsv482123CNV Gain20164927


    Human Gene Mutation Database (HGMD): CYP11B1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CYP11B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610613   
    OMIM disorders: 202010  103900  
    UniProtKB/Swiss-Prot: C11B1_HUMAN, P15538
  • Adrenal hyperplasia 4 (AH4) [MIM:202010]: A form of congenital adrenal hyperplasia, a common recessive
    disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen
    excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes
    with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the
    most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone
    biosynthesis, 'non-classic form' or late-onset (NC or LOAH)and 'cryptic' (asymptomatic). Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable
    hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol.
    There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease
    is caused by mutations affecting the gene represented in this entry. The molecular defect causing
    hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has
    the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2

  • 20/27 diseases for CYP11B1 (see all 27):    About MalaCards
    hyperaldosteronism    familial hyperaldosteronism    congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency    11-beta-hydroxylase-deficient congenital adrenal hyperplasia
    iridocyclitis    glucocorticoid-remediable aldosteronism    endocrine diseases    adrenal adenoma
    pelvic inflammatory disease    conn's syndrome    cushing's syndrome    21-hydroxylase deficiency
    patent ductus arteriosus    adrenocortical carcinoma    cytochrome p450    congestive heart failure
    hyperandrogenism    essential hypertension    was-related disorders    hypoglycemia

    6 diseases from the University of Copenhagen DISEASES database for CYP11B1:
    Hyperaldosteronism     Conn's syndrome     Iridocyclitis     Hypertension
    Cushing's syndrome     Adrenocortical carcinoma

    CYP11B1 for disorders           About GeneDecksing

    10/20 Novoseek inferred 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

    (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 277):
    (articles sorted by number of sources associating them with CYP11B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production. (PubMed id 15062555)1, 4, 9 Nicod J....Ferrari P. (2004)
    4. Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene. (PubMed id 16984984)1, 4, 9 Imrie H....Connell J.M. (2006)
    5. Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene. (PubMed id 17121536)1, 4, 9 Barr M....Davies E. (2006)
    6. 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)
    7. Effect of variation in CYP11B1 and CYP11B2 on corticosteroid phenotype and hypothalamic-pituitary-adrenal axis activity in hypertensive and normotensive subjects. (PubMed id 17980006)1, 4, 9 Freel E.M....Connell J.M. (2008)
    8. Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism. (PubMed id 20339375)1, 4, 9 Zhang G.X....Zhang X. (2010)
    9. 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)
    10. CYP11B2-CYP11B1 haplotypes associated with decreased 11 beta-hydroxylase activity. (PubMed id 15507509)1, 4, 9 Ganapathipillai S....Ferrari P. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1584 HGNC: 2591 AceView: CYP11B1 Ensembl:ENSG00000160882 euGenes: HUgn1584
    ECgene: CYP11B1 Kegg: 1584 H-InvDB: CYP11B1

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for CYP11B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP11B1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



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