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    Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 [ Mus musculus (house mouse) ]

    Gene ID: 15483, updated on 27-Nov-2024

    Summary

    Official Symbol
    Hsd11b1provided by MGI
    Official Full Name
    hydroxysteroid 11-beta dehydrogenase 1provided by MGI
    Primary source
    MGI:MGI:103562
    See related
    Ensembl:ENSMUSG00000016194 AllianceGenome:MGI:103562
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity. Acts upstream of or within lung development. Predicted to be located in apical part of cell and nuclear membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Used to study cortisone reductase deficiency 2. Human ortholog(s) of this gene implicated in cortisone reductase deficiency (multiple); hypertension (multiple); obesity; and type 2 diabetes mellitus. Orthologous to human HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 236.8), lung adult (RPKM 66.7) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Hsd11b1 in Genome Data Viewer
    Location:
    1 H6; 1 97.67 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (192903917..192946345, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (193221640..193264045, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:194995551-194995752 Neighboring gene RIKEN cDNA A130010J15 gene Neighboring gene STARR-positive B cell enhancer ABC_E7790 Neighboring gene interferon regulatory factor 6 Neighboring gene TRAF3 interacting protein 3 Neighboring gene STARR-positive B cell enhancer ABC_E3356 Neighboring gene STARR-positive B cell enhancer ABC_E7791 Neighboring gene STARR-positive B cell enhancer ABC_E9502 Neighboring gene STARR-seq mESC enhancer starr_03470 Neighboring gene STARR-positive B cell enhancer ABC_E8 Neighboring gene STARR-seq mESC enhancer starr_03471 Neighboring gene STARR-positive B cell enhancer mm9_chr1:195090138-195090438 Neighboring gene G0/G1 switch gene 2 Neighboring gene laminin, beta 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:195164577-195164848 Neighboring gene predicted gene, 51741

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables 7-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables NADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables NADP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables steroid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables steroid binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in glucocorticoid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glucocorticoid catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mineralocorticoid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of pentose-phosphate shunt ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in steroid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    11-beta-hydroxysteroid dehydrogenase 1
    Names
    11-beta-HSD1
    11-beta-HSD1A/MCR
    11-beta-hydroxysteroid dehydrogenase/microsomal carbonyl reductase
    11beta-HSD-1
    11beta-HSD1A
    11beta-hydroxysteroid dehydrogenase type 1
    7-oxosteroid reductase
    Corticosteroid 11-beta-dehydrogenase, isozyme 1 (11-DH) (11-beta-hydroxysteroid dehydrogenase 1) (11-beta-HSD1) (11beta-HSD1A)
    corticosteroid 11-beta-dehydrogenase isozyme 1
    liver-type 11-beta-HSD
    NP_001038216.1
    NP_001407154.1
    NP_001407155.1
    NP_001407156.1
    NP_001407157.1
    NP_001407158.1
    NP_032314.2
    XP_006497291.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001044751.2NP_001038216.1  11-beta-hydroxysteroid dehydrogenase 1 isoform 1

      See identical proteins and their annotated locations for NP_001038216.1

      Status: VALIDATED

      Source sequence(s)
      AC022675, AL365322
      Consensus CDS
      CCDS15635.1
      UniProtKB/Swiss-Prot
      P50172
      UniProtKB/TrEMBL
      Q4JHD9
      Related
      ENSMUSP00000016338.9, ENSMUST00000016338.15
      Conserved Domains (1) summary
      cd05332
      Location:32279
      11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
    2. NM_001420225.1NP_001407154.1  11-beta-hydroxysteroid dehydrogenase 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC022675, AL365322
      UniProtKB/Swiss-Prot
      P50172
      UniProtKB/TrEMBL
      Q4JHD9
    3. NM_001420226.1NP_001407155.1  11-beta-hydroxysteroid dehydrogenase 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC022675, AL365322
      UniProtKB/Swiss-Prot
      P50172
      UniProtKB/TrEMBL
      Q4JHD9
    4. NM_001420227.1NP_001407156.1  11-beta-hydroxysteroid dehydrogenase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC022675, AL365322
      UniProtKB/TrEMBL
      Q3TJI8
      Related
      ENSMUSP00000123849.2, ENSMUST00000160929.8
    5. NM_001420228.1NP_001407157.1  11-beta-hydroxysteroid dehydrogenase 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC022675, AL365322
    6. NM_001420229.1NP_001407158.1  11-beta-hydroxysteroid dehydrogenase 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC022675, AL365322
    7. NM_008288.3NP_032314.2  11-beta-hydroxysteroid dehydrogenase 1 isoform 1

      See identical proteins and their annotated locations for NP_032314.2

      Status: VALIDATED

      Source sequence(s)
      AC022675, AL365322
      Consensus CDS
      CCDS15635.1
      UniProtKB/Swiss-Prot
      P50172
      UniProtKB/TrEMBL
      Q4JHD9
      Related
      ENSMUSP00000125620.2, ENSMUST00000161737.8
      Conserved Domains (1) summary
      cd05332
      Location:32279
      11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      192903917..192946345 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497228.3XP_006497291.1  11-beta-hydroxysteroid dehydrogenase 1 isoform X1

      Conserved Domains (1) summary
      cd05332
      Location:44291
      11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs