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

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Summary

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; 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]

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Genomic context

Location :: 1q32-q41

Sequence :: Chromosome: 1; NC_000001.10 (209859525..209908295)

See HSD11B1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The overexpression of 11beta-hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients.
Title: Overexpression of hepatic 5α-reductase and 11β-hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients.
Low expression of 11beta-hydroxysteroid dehydrogenase type 1 is associated with breast cancer.
Title: Expression of 11β-hydroxysteroid dehydrogenase type 1 in breast cancer and adjacent non-malignant tissue. An immunocytochemical study.
Elevated 11beta-HSD1 activity in clinically inactive inflammatory bowel disease implicates gastrointestinal glucocorticoid activation in the maintenance of disease remission.
Title: Can 11β-hydroxysteroid dehydrogenase activity predict the sensitivity of bone to therapeutic glucocorticoids in inflammatory bowel disease?
demonstrated expression of mRNA for 11beta-HSD-1 and 11beta-HSD-2 and protein for 11beta-HSD-1 in rat and human pancreatic islets and insulinoma cells
Title: Modulation of pancreatic islets-stress axis by hypothalamic releasing hormones and 11beta-hydroxysteroid dehydrogenase.
Short-small-for-Gestational-Age condition is associated with enhanced glucocorticoid-stimulated 11beta-HSD-1 activity.
Title: 11β-Hydroxysteroid dehydrogenase type 1 activity in short small-for-GA children and in response to GH therapy.
In a population of Southern European Caucasian women with and without PCOS, alleles of HSD11B1 containing the two SNPs rs846910 A and rs12086634 T confer increased 11beta-HSD1 expression and activity, which associates with the metabolic syndrome.
Title: A combination of polymorphisms in HSD11B1 associates with in vivo 11{beta}-HSD1 activity and metabolic syndrome in women with and without polycystic ovary syndrome.
tissue- and differentiation state-specific promoter usage in expression of human HSD11B
Title: Analysis of alternative promoter usage in expression of HSD11B1 including the development of a transcript-specific quantitative real-time PCR method.
There were no significant associations between any HSD11B1 SNP and blood pressure or body mass index that could have confounded the association with LVM.
Title: Common variation at the 11-β hydroxysteroid dehydrogenase type 1 gene is associated with left ventricular mass.
11beta-HSD1 is responsible for 7-oxolithocholic acid reduction in humans, providing a further link between hepatic glucocorticoid activation and bile acid metabolism
Title: Hepatic reduction of the secondary bile acid 7-oxolithocholic acid is mediated by 11β-hydroxysteroid dehydrogenase 1.
11beta-HSD1 controls glucocorticoid-induced protein degradation in human and murine skeletal muscle via regulation of the E3 ubiquitin ligases Atrogin-1 and MuRF-1.
Title: Skeletal muscle 11beta-HSD1 controls glucocorticoid-induced proteolysis and expression of E3 ubiquitin ligases atrogin-1 and MuRF-1.

Submit: New GeneRIF Correction See all (114)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Cortisone reductase deficiency

MIM: 604931

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:109523	BioGRID:107386	CD36		BioGRID	PubMed	Reconstituted Complex

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
nucleotide binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
glucocorticoid biosynthetic process	TAS Traceable Author Statement more info
lung development	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	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

EC 1.1.1.146

NP_005516.1

EC 1.1.1.146

NP_861420.1

EC 1.1.1.146

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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

NG_012081.1 RefSeqGene

Range

4976..53746

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000355995, OTTHUMP00000034650, ENST00000367028, OTTHUMT00000088743

Conserved Domains (2) summary

COG3967
Location:32 – 277
Blast Score: 171

DltE; Short-chain dehydrogenase involved in D-alanine esterification of lipoteichoic acid and wall teichoic acid (D-alanine transfer protein) [Cell envelope biogenesis, outer membrane]

cd05332
Location:32 – 279
Blast Score: 835

11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
NM_005525.3 → NP_005516.1 corticosteroid 11-beta-dehydrogenase isozyme 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

Related

ENSP00000355994, OTTHUMP00000034649, ENST00000367027, OTTHUMT00000088742

Conserved Domains (2) summary

COG3967
Location:32 – 277
Blast Score: 171

DltE; Short-chain dehydrogenase involved in D-alanine esterification of lipoteichoic acid and wall teichoic acid (D-alanine transfer protein) [Cell envelope biogenesis, outer membrane]

cd05332
Location:32 – 279
Blast Score: 835

11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs
NM_181755.2 → NP_861420.1 corticosteroid 11-beta-dehydrogenase isozyme 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

Related

ENSP00000261465, ENST00000261465

Conserved Domains (2) summary

COG3967
Location:32 – 277
Blast Score: 171

DltE; Short-chain dehydrogenase involved in D-alanine esterification of lipoteichoic acid and wall teichoic acid (D-alanine transfer protein) [Cell envelope biogenesis, outer membrane]

cd05332
Location:32 – 279
Blast Score: 835

11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

209859525..209908295

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

180534794..180583575

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL022398.1	CAA18541.2
genomic	AL031316.2	CAI20063.1
genomic	AY044084.1	AAK83653.1
genomic	CH471100.2	EAW93445.1
		EAW93446.1
genomic	M76661.1	AAC31757.1
genomic	M76662.1	AAC31757.1
genomic	M76663.1	AAC31757.1
genomic	M76664.1	AAC31757.1
genomic	M76665.1	AAC31757.1
mRNA	AK313973.1	BAG36688.1
mRNA	BC012593.1	AAH12593.1
mRNA	BG619051.1	None
mRNA	BM994393.1	None
mRNA	BX345837.2	None
mRNA	CB530075.1	None
mRNA	CF596989.1	None
mRNA	CF597174.1	None
other-genetic	DQ892912.2	ABM83838.1
other-genetic	EU176721.1	ABW03522.1