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

HSD11B1 Gene

protein-coding   GIFtS: 67
GCID: GC01P209859

Hydroxysteroid (11-Beta) Dehydrogenase 1


(Previous symbols: HSD11B, HSD11)
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(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
Hydroxysteroid (11-Beta) Dehydrogenase 11 2     Short Chain Dehydrogenase/Reductase Family 26C1
HSD111 2 3 5     CORTRD22
HSD11L2 3 5     HDL2
HSD11B1 2     SDR26C12
11-DH2 3     Corticosteroid 11-Beta-Dehydrogenase Isozyme 12
11-beta-HSD12 3     Short Chain Dehydrogenase/Reductase Family 26C, Member 12
EC 1.1.1.1463 8     11-Beta-Hydroxysteroid Dehydrogenase 13
Member 11     EC 1.1.18

External Ids:    HGNC: 52081   Entrez Gene: 32902   Ensembl: ENSG000001175947   OMIM: 6007135   UniProtKB: P288453   

Export aliases for HSD11B1 gene to outside databases

Previous GC identifers: GC01P208517 GC01P205584 GC01P206517 GC01P206938 GC01P206247 GC01P207926 GC01P180534


(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 HSD11B1 Gene:
The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone
cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse
reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a
particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations
in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone
reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same
protein.(provided by RefSeq, May 2011)

GeneCards Summary for HSD11B1 Gene: 
HSD11B1 (hydroxysteroid (11-beta) dehydrogenase 1) is a protein-coding gene. Diseases associated with HSD11B1 include metabolic syndrome x, and cortisone reductase deficiency, and among its related super-pathways are Metabolic pathways and Mineralocorticoid biosynthesis. GO annotations related to this gene include 11-beta-hydroxysteroid dehydrogenase (NADP+) activity and nucleotide binding. An important paralog of this gene is HSD11B1L.

UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845
Function: Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes
reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs
only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity)

summary for HSD11B1 Gene:
The isozymes 11beta-HSD1 and 11beta-HSD2, both 11beta-Hydroxysteroid Dehydrogenases (11beta-HSD), catalyze
the interconversion of cortisol (corticosterone in rodents) and cortisone (11-dehyrodocorticosterone).
11beta-HSD1 converts cortisone to cortisol, the active hormone; and 11beta-HSD2 converts cortisol to
cortisone, the inactive form.

Gene Wiki entry for HSD11B1 (11β-hydroxysteroid dehydrogenase type 1) 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_000001.10  NC_018912.2  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD11B1 gene promoter:
         COUP-TF1   TBP   COUP-TF   COUP   HNF-4alpha1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HSD11B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD11B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD11B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32-q41   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32-q41

HSD11B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD11B1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P209859:  view genomic region     (about GC identifiers)

Start:
209,859,510 bp from pter      End:
209,908,295 bp from pter
Size:
48,786 bases      Orientation:
plus 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: DHI1_HUMAN, P28845 (See protein sequence)
Recommended Name: Corticosteroid 11-beta-dehydrogenase isozyme 1  
Size: 292 amino acids; 32401 Da
Subunit: Homodimer
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein
6/26 PDB 3D structures from and Proteopedia for HSD11B1 (see all 26):
1XU7 (3D)        1XU9 (3D)        2BEL (3D)        2ILT (3D)        2IRW (3D)        2RBE (3D)    
Secondary accessions: B2R9Z1 D3DT89

Explore the universe of human proteins at neXtProt for HSD11B1: NX_P28845

Explore proteomics data for HSD11B1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28845

  • 4 DME Specific Peptides for HSD11B1 (P28845)
     NVSITLC  MEDMTFAE  IVTGASKG  MGAHVVVTARS 

    HSD11B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD11B1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001193670.1  NP_005516.1  NP_861420.1  

    ENSEMBL proteins: 
     ENSP00000355995   ENSP00000355994   ENSP00000261465  
    Reactome Protein details: P28845
    Human Recombinant Protein Products for HSD11B1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    HSD11B1 for ontologies           About GeneDecksing



    HSD11B1 Antibody Products: 
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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: 
    SDRC3: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P28845

    ProtoNet protein and cluster: P28845

    1 Blocks protein domain: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    HSD11B1 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: DHI1_HUMAN, P28845
    Function: Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes
    reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs
    only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity)
    Catalytic activity: An 11-beta-hydroxysteroid + NADP(+) = an 11-oxosteroid + NADPH

         Genatlas biochemistry entry for HSD11B1:
    hydroxysteroid dehydrogenase 11-beta 1,NADP dependent,expressed in liver,lung,testis,catalyzing the
    interconversion of cortisol and cortisone,glucocorticoid metabolism liver

         Enzyme Numbers (IUBMB): EC 1.1.1.1461 2 EC 1.1.12

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:000384511-beta-hydroxysteroid dehydrogenase [NAD(P)] activity TAS--
    GO:0016491oxidoreductase activity ----
    GO:007052411-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA--
         
    HSD11B1 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hsd11b1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     muscle  nervous system  respiratory system 

    HSD11B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HSD11B1: Hsd11b1tm1Yko Hsd11b1tm1.1Ggla

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSD11B1 
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    hsa-miR-579 hsa-miR-330-5p hsa-miR-561 hsa-miR-513a-3p hsa-miR-589* hsa-miR-132 hsa-miR-3125 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidHSD11B1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD11B1


    (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 HSD11B1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Mineralocorticoid biosynthesis
    Glucocorticoid biosynthesis0.71
    Glucocorticoid & Mineralcorticoid Metabolism0.67
    3Drug metabolism - cytochrome P450
    Chemical carcinogenesis0.77
    Metabolism of xenobiotics by cytochrome P4500.77
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00
    5Glucuronidation
    Steroid hormone biosynthesis0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for HSD11B1
        Prostaglandin Synthesis and Regulation
    Glucocorticoid & Mineralcorticoid Metabolism


    5        Reactome Pathways for HSD11B1
        Glucocorticoid biosynthesis
    Metabolism of steroid hormones and vitamin D
    Metabolism
    Steroid hormones
    Metabolism of lipids and lipoproteins


    4         Kegg Pathways  (Kegg details for HSD11B1):
        Steroid hormone biosynthesis
    Metabolism of xenobiotics by cytochrome P450
    Metabolic pathways
    Chemical carcinogenesis


    HSD11B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD11B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for HSD11B1 (P288453 ENSP000002614654) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD36P166713, ENSP000003081654I2D: score=1 STRING: ENSP00000308165
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    CYP11B1ENSP000002924274STRING: ENSP00000292427
    CYP11B2ENSP000003258224STRING: ENSP00000325822
    HSD3B1ENSP000003584214STRING: ENSP00000358421
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006704glucocorticoid biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0008202steroid metabolic process TAS--
    GO:0030324lung development IEA--
    GO:0044281small molecule metabolic process TAS--

    HSD11B1 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

    HSD11B1 for compounds           About GeneDecksing

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

    Compounds for HSD11B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PF 915275Potent and selective 11beta-hydroxysteroid dehydrogenase inhibitor[857290-04-1]

    10/14 HMDB Compounds for HSD11B1 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    7a-Hydroxydehydroepiandrosterone7a-Hydroxydehydroisoandrosterone (see all 9)53-00-917467270
    11-Dehydrocorticosterone11-dehydro-Corticosterone (see all 15)72-23-1--
    11b-Hydroxyandrost-4-ene-3,17-dioneAndrost-4-ene-3,17-dione-11beta-ol (see all 3)382-44-5--
    3a,21-Dihydroxy-5b-pregnane-11,20-dione5beta-Pregnane-3alpha,21-diol-11,20-dione (see all 2)566-03-0--
    7-Ketocholesterol3b-Hydroxycholest-5-en-7-one (see all 5)566-28-9--
    Adrenosterone 382-45-6--
    Corticosterone11,21-Dihydroxypregn-4-ene-3,20-dione (see all 8)50-22-6--
    Cortisol11-Hydrocortisone (see all 173)50-23-7--
    CortisoneAndreson (see all 45)53-06-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--

    10/18 DrugBank Compounds for HSD11B1 (see all 18)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 9141556 17016423 8585102
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423
    2-(N-Morpholino)-Ethanesulfonic Acid-- --target--17139284 17016423
    (11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE-- --target--10592235
    (1S,3R,4S,5S,7S)-4-{[2-(4-METHOXYPHENOXY)-2-METHYLPROPANOYL]AMINO}ADAMANTANE-1-CARBOXAMIDE-- --target--10592235
    (2R)-1-[(4-tert-butylphenyl)sulfonyl]-2-methyl-4-(4-nitrophenyl)piperazine-- --target--10592235
    (3,3-dimethylpiperidin-1-yl)(6-(3-fluoro-4-methylphenyl)pyridin-2-yl)methanone-- --target--10592235
    (5R)-2-[(2-fluorophenyl)amino]-5-(1-methylethyl)-1,3-thiazol-4(5H)-one-- --target--10592235
    (5S)-2-(cyclooctylamino)-5-methyl-5-propyl-1,3-thiazol-4(5H)-one-- --target--10592235
    (5S)-2-{[(1S)-1-(2-fluorophenyl)ethyl]amino}-5-methyl-5-(trifluoromethyl)-1,3-thiazol-4(5H)-one-- --target--10592235

    10/58 Novoseek inferred chemical compound relationships for HSD11B1 gene (see all 58)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11beta-hydroxysteroid 98.9 357 18622204 (9), 18826995 (8), 18511278 (2), 14683456 (2) (see all 99)
    cortisone 97.5 232 19456256 (6), 11238541 (4), 10385414 (4), 20041117 (3) (see all 99)
    11-dehydrocorticosterone 91.3 15 18779947 (2), 17584152 (1), 18826995 (1), 9202239 (1) (see all 14)
    tetrahydrocortisone 87.7 4 20041117 (1), 17766714 (1), 10522997 (1), 14671189 (1)
    carbenoxolone 85.5 21 12660894 (4), 12649365 (3), 14973125 (2), 19429429 (1) (see all 11)
    tetrahydrocortisol 79.3 2 17766714 (1), 16181237 (1)
    alpha-cortol 78.4 1 14671189 (1)
    allotetrahydrocortisol 77.7 1 14671189 (1)
    cortisone acetate 77.6 6 14616886 (2), 16181237 (2), 11465341 (1), 17555498 (1)
    glycyrrhetinic acid 73.7 5 12466364 (1), 15631868 (1), 16580270 (1), 10385414 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about HSD11B1 / DHI1

    (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,
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    About This Section

    REFSEQ mRNAs for HSD11B1 gene (3 alternative transcripts): 
    NM_001206741.1  NM_005525.3  NM_181755.2  

    Unigene Cluster for HSD11B1:

    Hydroxysteroid (11-beta) dehydrogenase 1
    Hs.195040  [show with all ESTs]
    Unigene Representative Sequence: BF698867
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367028 ENST00000367027 ENST00000261465(uc001hhj.3 uc021pin.1 uc001hhk.3)


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    Additional mRNA sequence: 

    AK313973.1 BC012593.1 

    4 DOTS entries:

    DT.441240  DT.87046342  DT.92427630  DT.121401186 

    24/128 AceView cDNA sequences (see all 128):

    CB164720 AW137482 BX377464 AI972602 AI373859 BQ000936 BX380717 CR603384 
    CD516243 BQ013947 CD518210 BG674247 BQ000155 BQ005256 CD515061 CB528427 
    AI139163 BU753891 CR622047 CR594617 CA443473 BG055093 NM_181755 CB163628 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HSD11B1    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b
    SP1:                                                                                          
    SP2:        -     -                                                                           
    SP3:                                -     -                                                   
    SP4:                                                                    -     -               


    ECgene alternative splicing isoforms for HSD11B1

    (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

    HSD11B1 expression in normal human tissues (normalized intensities)      HSD11B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCGCTGCA
    HSD11B1 Expression
    About this image


    HSD11B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Brain Pericytes   
             Septum   
     
     Adipose (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced E15 cells
             Human Preadipocyte-visceral (HPA-v)   
             omental adipose tissue   
     
     Fibroblast (Uncategorized)    fully expand to see all 5 entries
             Human Prostate Fibroblasts (HPrF)   
     
     Uncategorized (Uncategorized)    fully expand to see all 4 entries
             PureStem progenitor RP1-MV2-16
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hepatocytes Liver Lobule
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   

    See HSD11B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD11B1

    SOURCE GeneReport for Unigene cluster: Hs.195040

    UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845
    Tissue specificity: Widely expressed. Highest expression in liver

        SABiosciences Custom PCR Arrays for HSD11B1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD11B1

    (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 eukaryotes.

    Orthologs for HSD11B1 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 Hsd11b11 , 5 hydroxysteroid 11-beta dehydrogenase 11, 5 79.73(n)1
    78.69(a)1
      1 (97.67 cM)5
    154831  NM_008288.21  NP_032314.21 
     1932216305 
    chicken
    (Gallus gallus)
    Aves LOC7719301 corticosteroid 11-beta-dehydrogenase isozyme 1-like 63.77(n)
    58.68(a)
      771930  XM_001235137.2  XP_001235138.2 
    lizard
    (Anolis carolinensis)
    Reptilia HSD11B16
    --
    Uncharacterized protein
    60(a)
    44(a)
    1 ↔ 1
    possible ortholog
    4(126062923-126080100)
    GL343338.1(7419-10850)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC645452 hypothetical protein MGC64545 73.03(n)    BC054291.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HSD41 hydroxysteroid dehydrogenase 4 45.54(n)
    33.8(a)
      835128  NM_124447.1  NP_199871.1 


    ENSEMBL Gene Tree for HSD11B1 (if available)
    TreeFam Gene Tree for HSD11B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD11B1 gene
    HSD11B1L2  
    1 SIMAP similar gene for HSD11B1 using alignment to 1 protein entry:     DHI1_HUMAN:
    HSD11B1L

    HSD11B1 for paralogs           About GeneDecksing



    (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

    10/925 SNPs in HSD11B1 are shown (see all 925)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358454
    A breast cancer sample4--see VAR_0358452 V E mis40--------
    rs569388171,2
    C--180540176(+) TATCT-/CTTGTCAG 2 -- int10--------
    rs454872981,2
    C,F--180555493(+) ACCAA-/A/GGAGCT 3 -- int11--478
    rs345061211,2
    C,F--209860009(+) AGAAATGT/-TGTAA 2 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs715151441,2
    C--209871229(+) TTTCCT/CTTTTT 2 -- int11Minor allele frequency- C:0.00NA 2
    rs681028151,2
    C--209871513(+) TAGAT-/TAGA  
            
    TAGAT
    2 -- int11Minor allele frequency- TAGA:0.00NA 2
    rs57805331,2
    C--209878717(+) AAAAA-/A/CA  
            
    AAAAA
    3 -- int1 trp30--------
    rs722152411,2
    C--209880216(+) TCACC-/AAAGAG 3 -- int10--------
    rs563420281,2
    C--209892381(+) AAAAA-/AAAAAAAAAA/
    AAAAAAAAAAAAAA
    GGAAA
    3 -- int11NA 2
    rs455374351,2
    C,F--209905943(+) TTTTT-/TAATTA 3 -- int11Minor allele frequency- T:0.02--480

    HapMap Linkage Disequilibrium report for HSD11B1 (209859510 - 209908295 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HSD11B1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv525445CNV Loss19592680
    nsv873139CNV Gain21882294


    Human Gene Mutation Database (HGMD): HSD11B1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for HSD11B1

    (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: 600713   
    OMIM disorders: 604931  
    UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845
  • Cortisone reductase deficiency (CRD) [MIM:604931]: In CRD, activation of cortisone to cortisol does not
    occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary
    syndrome (PCOS). Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/56 diseases for HSD11B1 (see all 56):    About MalaCards
    metabolic syndrome x    cortisone reductase deficiency    apparent mineralocorticoid excess syndrome    van der woude syndrome
    adrenal adenoma    glucocorticoid resistance    intracranial hypertension    insulin resistance
    ocular hypertension    obesity    cushing's syndrome    acth deficiency
    hypopituitarism    glucose intolerance    nonalcoholic steatohepatitis    obesity, association with
    polycystic ovary syndrome    morbid obesity    acromegaly    lipodystrophy

    4 diseases from the University of Copenhagen DISEASES database for HSD11B1:
    Cushing's syndrome     Diabetes mellitus     Hypertension     Apparent mineralocorticoid excess syndrome

    HSD11B1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/40 Novoseek inferred disease relationships for HSD11B1 gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cortisone reductase deficiency 94.7 7 17062770 (1), 15466942 (1), 15827106 (1), 11469811 (1) (see all 6)
    obesity 73.7 131 15356040 (5), 15181046 (3), 12649365 (3), 15356090 (3) (see all 80)
    insulin resistance 69.4 46 17030962 (3), 16181237 (3), 15356040 (2), 19050176 (2) (see all 32)
    insulin sensitivity 68.8 23 15181046 (2), 19675138 (2), 17555498 (2), 19704410 (2) (see all 17)
    cushing syndrome 68.2 4 16914598 (2), 17766714 (1), 18209879 (1)
    metabolic disorder 57.5 21 16181035 (1), 18336279 (1), 18973788 (1), 19429429 (1) (see all 17)
    acth deficiency 57.3 1 10770221 (1)
    dyslipidemia 51.5 6 15118095 (1), 14683456 (1), 18311666 (1), 15356090 (1)
    metabolic syndrome x 49.1 3 16941796 (3)
    polycystic ovary syndrome 44.9 6 19704410 (2), 15827106 (1), 15877012 (1), 10651756 (1)

    Genetic Association Database (GAD): HSD11B1
    Human Genome Epidemiology (HuGE) Navigator: HSD11B1 (42 documents)

    Export disorders for HSD11B1 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 HSD11B1 gene, integrated from 9 sources (see all 456):
    (articles sorted by number of sources associating them with HSD11B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association studies between microsatellite markers within the gene encoding human 11beta-hydroxysteroid dehydrogenase type 1 and body mass index, waist to hip ratio, and glucocorticoid metabolism. (PubMed id 12414862)1, 2, 4, 9 Draper N.... Stewart P.M. (2002)
    2. The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization. (PubMed id 1885595)1, 2, 3 Tannin G.M.... White P.C. (1991)
    3. Appropriate function of 11beta-hydroxysteroid dehydrogenase type 1 in the endoplasmic reticulum lumen is dependent on its N-terminal region sharing similar topological determinants with 50-kDa esterase. (PubMed id 15152005)1, 2, 9 Frick C.... Odermatt A. (2004)
    4. Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. (PubMed id 12858176)1, 2, 9 Draper N....Stewart P.M. (2003)
    5. The N-terminal anchor sequences of 11beta-hydroxysteroid dehydrogenases determine their orientation in the endoplasmic reticulum membrane. (PubMed id 10497248)1, 2, 9 Odermatt A.... Frey F.J. (1999)
    6. Regulatory effect of common promoter polymorphisms on the expression of the 11beta-hydroxysteroid dehydrogenase type 1 gene. (PubMed id 19571556)1, 4, 9 Ku Y.H....Park K.S. (2009)
    7. HSD11B1 polymorphisms predicted bone mineral density and fracture risk in postmenopausal women without a clinically apparent hyperco rtisolemia. (PubMed id 19651257)1, 4, 9 Hwang J.Y....Kim S.Y. (2009)
    8. Association study of 11beta-hydroxysteroid dehydrogen ase type 1 gene polymorphisms and metabolic syndrome in urban Japanese cohort. (PubMed id 19535162)1, 4, 9 Miyamoto Y....Morisaki T. (2009)
    9. [Possible pathogenetic role of 11 beta-hydroxysteroid dehydrogenase type 1 (11betaHSD1) gene polymorphisms in arterial hypertension] (PubMed id 18769825)1, 4, 9 Morales M.A....Fardella C.E. (2008)
    10. Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia. (PubMed id 17062770)1, 4, 9 Smit P....Lamberts S.W. (2007)

    (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: 3290 HGNC: 5208 AceView: HSD11B1 Ensembl:ENSG00000117594 euGenes: HUgn3290
    ECgene: HSD11B1 Kegg: 3290 H-InvDB: HSD11B1

    (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 HSD11B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD11B1 gene:
    Search GeneIP for patents involving HSD11B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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