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

Gene ID: 15483, updated on 21-Apr-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; nuclear membrane; and rough endoplasmic reticulum. Predicted to be integral component of 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; cortisone reductase deficiency 2; and obesity. Orthologous to human HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver adult (RPKM 236.8), lung adult (RPKM 66.7) and 8 other tissues See more
Orthologs
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Genomic context

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 ISO
Inferred from Sequence Orthology
more info
 
enables cortisol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase 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 lipid metabolic process IEA
Inferred from Electronic Annotation
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
 
acts_upstream_of_or_within 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
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
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 membrane IEA
Inferred from Electronic Annotation
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)

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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
  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