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Hsd11b1 Gene Detail
Summary
  • Symbol
    Hsd11b1
  • Name
    hydroxysteroid 11-beta dehydrogenase 1
  • Synonyms
    11beta-HSD-1, 11beta-hydroxysteroid dehydrogenase type 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:103562
    NCBI Gene: 15483
Location & Maps
more
  • Sequence Map
    Chr1:193221634-193264075 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      42442 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 97.67 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    HSD11B1, hydroxysteroid 11-beta dehydrogenase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HSD11B1, hydroxysteroid 11-beta dehydrogenase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    11-beta-HSD1, 11-DH, CORTRD2, HDL, HSD11, HSD11B, HSD11L, SDR26C1
  • Links
    NCBI Gene ID: 3290
    neXtProt AC: NX_P28845

  • Chr Location
    1q32-q41; chr1:209686180-209734950 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Hsd11b1 mouse models; 1 with human HSD11B1 associations

Human Disease Mouse Models
       Cortisone Reductase Deficiency 2; CORTRD2   OMIM: 614662 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 7 alleles in 8 genetic backgrounds
    39 phenotypes from multigenic genotypes
    3 images
    47 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Gene trapped
    2
  • Targeted
    11
  • Transgenic
    1
  • Incidental Mutations
    Mutagenetix , APF
Mice homozygous for disruptions in this gene display improved glucose tolerance and lower circulating lipid levels. Mice homozygous for a different targeted allele exhibit decreased susceptibility to weight gain, adiposis or hyperinsulinemia induced by 11-DHC.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    23
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    126
  • Tissues
    98
  • cDNA Data
    113
  • Literature Summary
    13
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030692 VEGA Gene Model | MGI Sequence Detail 42442 C57BL/6J ±  kb
transcript OTTMUST00000075989 VEGA | MGI Sequence Detail 1623 Not Applicable  
polypeptide OTTMUSP00000039928 VEGA | MGI Sequence Detail 292 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    320 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 116
    Genomic 1
    cDNA 113
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-24447
References
more
  • Summaries
    All 100
    Developmental Gene Expression 13
    Diseases 4
    Gene Ontology 7
    Phenotypes 47
  • Earliest
    J:23036 Oppermann UC, et al., Cloning and primary structure of murine 11 beta-hydroxysteroid dehydrogenase/microsomal carbonyl reductase. Eur J Biochem. 1995 Jan 15;227(1-2):202-8
  • Latest
    J:233701 Terao M, et al., Local Glucocorticoid Activation by 11beta-Hydroxysteroid Dehydrogenase 1 in Keratinocytes: The Role in Hapten-Induced Dermatitis. Am J Pathol. 2016 Jun;186(6):1499-510
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory