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

Gene ID: 3290, updated on 26-Aug-2014
Official Symbol
HSD11B1provided by HGNC
Official Full Name
hydroxysteroid (11-beta) dehydrogenase 1provided by HGNC
Primary source
HGNC:5208
See related
Ensembl:ENSG00000117594; HPRD:07042; MIM:600713; Vega:OTTHUMG00000036481
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]
See HSD11B1 in Epigenomics, MapViewer
Location:
1q32-q41
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 uncharacterized LOC101930114 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 TAS
Traceable Author Statement
more info
 
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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process TAS
Traceable Author Statement
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 IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
corticosteroid 11-beta-dehydrogenase isozyme 1
Names
corticosteroid 11-beta-dehydrogenase isozyme 1
short chain dehydrogenase/reductase family 26C, member 1
NP_001193670.1
NP_005516.1
NP_861420.1

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 

    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 proteins identical to 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, OTTHUMP00000034650, ENST00000367028, OTTHUMT00000088743
    Conserved Domains (2) summary
    cd05332
    Location:32279
    Blast Score: 851
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
    pfam00106
    Location:35201
    Blast Score: 312
    adh_short; short chain dehydrogenase
  2. NM_005525.3NP_005516.1  corticosteroid 11-beta-dehydrogenase isozyme 1

    See proteins identical to 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, CF596989
    Consensus CDS
    CCDS1489.1
    UniProtKB/Swiss-Prot
    P28845
    UniProtKB/TrEMBL
    X5D2L1
    Related
    ENSP00000355994, OTTHUMP00000034649, ENST00000367027, OTTHUMT00000088742
    Conserved Domains (2) summary
    cd05332
    Location:32279
    Blast Score: 851
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
    pfam00106
    Location:35201
    Blast Score: 312
    adh_short; short chain dehydrogenase
  3. NM_181755.2NP_861420.1  corticosteroid 11-beta-dehydrogenase isozyme 1

    See proteins identical to 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 (2) summary
    cd05332
    Location:32279
    Blast Score: 851
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
    pfam00106
    Location:35201
    Blast Score: 312
    adh_short; short chain dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

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

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    180534794..180583575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    211131921..211180673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)