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HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 3290, updated on 7-Dec-2018

Summary

Official Symbol
HSD11B1provided by HGNC
Official Full Name
hydroxysteroid 11-beta dehydrogenase 1provided by HGNC
Primary source
HGNC:HGNC:5208
See related
Ensembl:ENSG00000117594 MIM:600713
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HDL; 11-DH; HSD11; HSD11B; HSD11L; CORTRD2; SDR26C1; 11-beta-HSD1
Summary
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]
Expression
Biased expression in liver (RPKM 186.4), placenta (RPKM 27.2) and 1 other tissue See more
Orthologs

Genomic context

See HSD11B1 in Genome Data Viewer
Location:
1q32.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (209686180..209734950)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (209859525..209908295)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene laminin subunit beta 3 Neighboring gene microRNA 4260 Neighboring gene HSD11B1 antisense RNA 1 Neighboring gene G0/G1 switch 2 Neighboring gene adenosine A2b receptor pseudogene 1 Neighboring gene TRAF3 interacting protein 3 Neighboring gene chromosome 1 open reading frame 74

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13539

Gene Ontology Provided by GOA

Function Evidence Code Pubs
11-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
 
11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity TAS
Traceable Author Statement
more info
 
steroid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
glucocorticoid biosynthetic process TAS
Traceable Author Statement
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
corticosteroid 11-beta-dehydrogenase isozyme 1
Names
short chain dehydrogenase/reductase family 26C member 1
NP_001193670.1
NP_005516.1
NP_861420.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012081.1 RefSeqGene

    Range
    4976..53746
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206741.1NP_001193670.1  corticosteroid 11-beta-dehydrogenase isozyme 1

    See identical proteins and their annotated locations for NP_001193670.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK313973, AL031316, BX345837, CB530075, CF597174
    Consensus CDS
    CCDS1489.1
    UniProtKB/Swiss-Prot
    P28845
    UniProtKB/TrEMBL
    X5D2L1
    Related
    ENSP00000355995.1, ENST00000367028.6
    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_005525.4NP_005516.1  corticosteroid 11-beta-dehydrogenase isozyme 1

    See identical proteins and their annotated locations for NP_005516.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL022398, BC012593, BM994393
    Consensus CDS
    CCDS1489.1
    UniProtKB/Swiss-Prot
    P28845
    UniProtKB/TrEMBL
    X5D2L1
    Related
    ENSP00000355994.3, ENST00000367027.4
    Conserved Domains (1) summary
    cd05332
    Location:32279
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
  3. NM_181755.2NP_861420.1  corticosteroid 11-beta-dehydrogenase isozyme 1

    See identical proteins and their annotated locations for NP_861420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK313973, AL031316, CB530075, CF597174
    Consensus CDS
    CCDS1489.1
    UniProtKB/Swiss-Prot
    P28845
    UniProtKB/TrEMBL
    X5D2L1
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    209686180..209734950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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