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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HSD11B1 Gene

protein-coding GIFtS: 67
GCID: GC01P209859

hydroxysteroid (11-beta) dehydrogenase 1

(Previous symbols: HSD11B, HSD11)

Explore 63 diseases affiliated with
HSD11B1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hydroxysteroid (11-Beta) Dehydrogenase 1¹ ²		EC 1.1.1.146³ ⁸
HSD11¹ ² ³ ⁵		CORTRD2²
HSD11L² ³ ⁵		HDL²
HSD11B¹ ²		Corticosteroid 11-Beta-Dehydrogenase Isozyme 1²
SDR26C1¹ ²		Short Chain Dehydrogenase/Reductase Family 26C, Member 1²
11-DH² ³		11-Beta-Hydroxysteroid Dehydrogenase 1³
11-Beta-HSD1¹		EC 1.1.1⁸

External Ids:	HGNC: 5208¹	Entrez Gene: 3290²	Ensembl: ENSG00000117594⁷	OMIM: 600713⁵	UniProtKB: P28845³

Export aliases for HSD11B1 gene to outside databases

Previous GC identifers: GC01P208517 GC01P205584 GC01P206517 GC01P206938 GC01P206247 GC01P207926 GC01P180534

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HSD11B1:

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)

UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845

Function: Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly

the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one

direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity)

Gene Wiki entry for HSD11B1 (11β-hydroxysteroid dehydrogenase type 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_167186.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HSD11B1 gene promoter:
COUP-TF1 TBP COUP-TF COUP HNF-4alpha1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HSD11B1 promoter sequence

Search SABiosciences Chromatin IP Primers for HSD11B1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD11B1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32-q41 Ensembl cytogenetic band: 1q32.2 HGNC cytogenetic band: 1q32-q41

HSD11B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD11B1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P209859: view genomic region (about GC identifiers)

Start:	209,859,510 bp from pter	End:	209,908,295 bp from pter
Size:	48,786 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845 (See protein sequence)

Recommended Name: Corticosteroid 11-beta-dehydrogenase isozyme 1

Size: 292 amino acids; 32401 Da

Subunit: Homodimer

Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein

6/25 PDB 3D structures from and Proteopedia for HSD11B1 (see all 25):

1XU7 (3D)

1XU9 (3D)

2BEL (3D)

2ILT (3D)

2IRW (3D)

2RBE (3D)

Secondary accessions: B2R9Z1 D3DT89

Explore the universe of human proteins at neXtProt for HSD11B1: NX_P28845

Post-translational modifications:

Glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P28845

4 DME Specific Peptides for HSD11B1 (P28845)

NVSITLC

MEDMTFAE

IVTGASKG

MGAHVVVTARS

HSD11B1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001193670.1 NP_005516.1 NP_861420.1

ENSEMBL proteins:

ENSP00000355995 ENSP00000355994 ENSP00000261465

Reactome Protein details: P28845
Human Recombinant Protein Products:

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	Novus Biologicals HSD11B1 Proteins Novus Biologicals HSD11B1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for HSD11B1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016021	integral to membrane	IEA	--

HSD11B1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for HSD11B1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HSD11B1 for domains About GeneDecksing

4 InterPro domains/families:

IPR020904 Sc_DH/Rdtase_CS

IPR002347 Glc/ribitol_DH

IPR002198 DH_sc/Rdtase_SDR

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry P28845

ProtoNet protein and cluster: P28845

1 Blocks protein family: IPB002198 Short-chain dehydrogenase/reductase SDR

UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845

Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845

Function: Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly

the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one

direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity)

Catalytic activity: An 11-beta-hydroxysteroid + NADP(+) = an 11-oxosteroid + NADPH

Genatlas biochemistry entry for HSD11B1:

hydroxysteroid dehydrogenase 11-beta 1,NADP dependent,expressed in liver,lung,testis,catalyzing the interconversion of

cortisol and cortisone,glucocorticoid metabolism liver

Enzyme Numbers (IUBMB): EC 1.1.1.146¹ ² EC 1.1.1²

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HSD11B1
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate HSD11B1 (see all 12):
		hsa-miR-579 hsa-miR-330-5p hsa-miR-561 hsa-miR-513a-3p hsa-miR-589* hsa-miR-132 hsa-miR-3125 hsa-miR-3916

		SwitchGear 3'UTR luciferase reporter plasmid: HSD11B1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HSD11B1 (see all 7) OriGene shRNA RFP: HSD11B1 OriGene siRNA: HSD11B1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HSD11B1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HSD11B1

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		GenScript: all cDNA clones in your preferred vector (see all 3): HSD11B1 (NM_005525)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSD11B1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSD11B1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HSD11B1
		Search LifeMap BioReagents cell lines for HSD11B1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD11B1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003845	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity	TAS	--
GO:0070524	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA	--

HSD11B1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for HSD11B1: Hsd11b1^tm1Yko Hsd11b1^tm1.1Ggla
     9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Hsd11b1):

adipose tissue	behavior/neurological	endocrine/exocrine gland	growth/size	homeostasis/metabolism
liver/biliary system	muscle	nervous system	respiratory system

HSD11B1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Glucocorticoid biosynthesis

Glucocorticoid biosynthesis

1.00

Glucocorticoid & Mineralcorticoid Metabolism

0.56

Vitamin D (calciferol) metabolism

Steroid hormones

0.27

Metabolism of steroid hormones and vitamin D

0.27

Prostaglandin Synthesis and Regulation

Prostaglandin Synthesis and Regulation

1.00

Aldosterone-regulated sodium reabsorption

Aldosterone-regulated sodium reabsorption

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for HSD11B1

	Prostaglandin Synthesis and Regulation
	Glucocorticoid & Mineralcorticoid Metabolism

5 Reactome Pathways for HSD11B1

	Glucocorticoid biosynthesis
	Metabolism of steroid hormones and vitamin D
	Metabolism
	Steroid hormones
	Metabolism of lipids and lipoproteins

3 Kegg Pathways (Kegg details for HSD11B1):

	Steroid hormone biosynthesis
	Metabolic pathways
	Aldosterone-regulated sodium reabsorption

HSD11B1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HSD11B1

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for HSD11B1 (P28845³ ENSP00000261465⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CD36	P16671³, ENSP00000308165⁴	I2D: score=1 STRING: ENSP00000308165
AKR1C4	ENSP00000263126⁴	STRING: ENSP00000263126
CYP11B1	ENSP00000292427⁴	STRING: ENSP00000292427
CYP11B2	ENSP00000325822⁴	STRING: ENSP00000325822
HSD3B1	ENSP00000358421⁴	STRING: ENSP00000358421

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006704	glucocorticoid biosynthetic process	TAS	--
GO:0008202	steroid metabolic process	TAS	--
GO:0030324	lung development	IEA	--
GO:0044281	small molecule metabolic process	TAS	--

HSD11B1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HSD11B1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for HSD11B1 available from Tocris Bioscience About this table

Compound	Action	CAS #
PF 915275	Potent and selective 11beta-hydroxysteroid dehydrogenase inhibitor	[857290-04-1]

10/14 HMDB Compounds for HSD11B1 (see all 14) About this table

Compound	Synonyms	CAS #	PubMed Ids
7a-Hydroxydehydroepiandrosterone	7a-Hydroxydehydroisoandrosterone (see all 9)	53-00-9	17467270
11-Dehydrocorticosterone	11-dehydro-Corticosterone (see all 15)	72-23-1	--
11b-Hydroxyandrost-4-ene-3,17-dione	Androst-4-ene-3,17-dione-11beta-ol (see all 3)	382-44-5	--
3a,21-Dihydroxy-5b-pregnane-11,20-dione	5beta-Pregnane-3alpha,21-diol-11,20-dione (see all 2)	566-03-0	--
7-Ketocholesterol	3b-Hydroxycholest-5-en-7-one (see all 5)	566-28-9	--
Adrenosterone		382-45-6	--
Corticosterone	11,21-Dihydroxypregn-4-ene-3,20-dione (see all 8)	50-22-6	--
Cortisol	11-Hydrocortisone (see all 173)	50-23-7	--
Cortisone	Andreson (see all 45)	53-06-5	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--

10/17 DrugBank Compounds for HSD11B1 (see all 17) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 9141556 17016423 8585102
2'-Monophosphoadenosine 5'-Diphosphoribose	--	--	target	--	17139284 17016423
2-(N-Morpholino)-Ethanesulfonic Acid	--	--	target	--	17139284 17016423
(11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE	--	--	target	--	10592235
(1S,3R,4S,5S,7S)-4-{[2-(4-METHOXYPHENOXY)-2-METHYLPROPANOYL]AMINO}ADAMANTANE-1-CARBOXAMIDE	--	--	target	--	10592235
(2R)-1-[(4-tert-butylphenyl)sulfonyl]-2-methyl-4-(4-nitrophenyl)piperazine	--	--	target	--	10592235
(3,3-dimethylpiperidin-1-yl)(6-(3-fluoro-4-methylphenyl)pyridin-2-yl)methanone	--	--	target	--	10592235
(5R)-2-[(2-fluorophenyl)amino]-5-(1-methylethyl)-1,3-thiazol-4(5H)-one	--	--	target	--	10592235
(5S)-2-(cyclooctylamino)-5-methyl-5-propyl-1,3-thiazol-4(5H)-one	--	--	target	--	10592235
(5S)-2-{[(1S)-1-(2-fluorophenyl)ethyl]amino}-5-methyl-5-(trifluoromethyl)-1,3-thiazol-4(5H)-one	--	--	target	--	10592235

10/58 Novoseek chemical compound relationships for HSD11B1 gene (see all 58) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
11beta-hydroxysteroid	98.9	357	18622204 (9), 18826995 (8), 18511278 (2), 14683456 (2) (see all 99)
cortisone	97.5	232	19456256 (6), 11238541 (4), 10385414 (4), 20041117 (3) (see all 99)
11-dehydrocorticosterone	91.3	15	18779947 (2), 17584152 (1), 18826995 (1), 9202239 (1) (see all 14)
tetrahydrocortisone	87.7	4	20041117 (1), 17766714 (1), 10522997 (1), 14671189 (1)
carbenoxolone	85.5	21	12660894 (4), 12649365 (3), 14973125 (2), 19429429 (1) (see all 11)
tetrahydrocortisol	79.3	2	17766714 (1), 16181237 (1)
alpha-cortol	78.4	1	14671189 (1)
allotetrahydrocortisol	77.7	1	14671189 (1)
cortisone acetate	77.6	6	14616886 (2), 16181237 (2), 11465341 (1), 17555498 (1)
glycyrrhetinic acid	73.7	5	12466364 (1), 15631868 (1), 16580270 (1), 10385414 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about HSD11B1 / DHI1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HSD11B1 gene (3 alternative transcripts):

NM_001206741.1 NM_005525.3 NM_181755.2

Unigene Cluster for HSD11B1:

Hydroxysteroid (11-beta) dehydrogenase 1

Hs.195040 [show with all ESTs]

Unigene Representative Sequence: BF698867

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000367028 ENST00000367027 ENST00000261465(uc001hhj.3 uc021pin.1 uc001hhk.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): HSD11B1 Browse OriGene MicroRNA Expression Plasmids
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		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate HSD11B1 (see all 12):
		hsa-miR-579 hsa-miR-330-5p hsa-miR-561 hsa-miR-513a-3p hsa-miR-589* hsa-miR-132 hsa-miR-3125 hsa-miR-3916

		SwitchGear 3'UTR luciferase reporter plasmid: HSD11B1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HSD11B1 (see all 7) OriGene shRNA RFP: HSD11B1 OriGene siRNA: HSD11B1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HSD11B1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HSD11B1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HSD11B1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): HSD11B1 (NM_005525)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSD11B1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSD11B1

Additional cDNA sequence:

AK313973.1 BC012593.1

4 DOTS entries:

DT.441240 DT.87046342 DT.92427630 DT.121401186

24/128 AceView cDNA sequences (see all 128):

CD516243 BQ013947 CD518210 BG055093 CR618163 CR609467 BX335991 NM_181755

BG741370 CR622047 AI139163 CD515061 CB163628 NM_005525 BU753891 CB528427

AA042954 BX377464 CF127979 CB164720 BG619051 AW955839 AW137482 BQ000155

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for HSD11B1 About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b	·	5c	^	6a	·	6b	^	7a	·	7b
SP1:
SP2:			-		-
SP3:											-		-
SP4:																							-		-

ECgene alternative splicing isoforms for HSD11B1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HSD11B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACCGCTGCA

About this image

HSD11B1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

CD31, CD144 positive cells (Two-step protocol fo...)

HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)

Adipose

HyStem+BMP4-induced E15 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HSD11B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HSD11B1

SOURCE GeneReport for Unigene cluster: Hs.195040

UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845

Tissue specificity: Widely expressed. Highest expression in liver

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSD11B1 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC771930¹	corticosteroid 11-beta-dehydrogenase isozyme 1-like	63.77(n) 58.68(a)		771930 XM_001235137.2 XP_001235138.2
lizard (Anolis carolinensis)	Reptilia	HSD11B1⁶ --	--	60(a) 45(a)	1 ↔ 1 possible ortholog	4(126063522-126080100) GL343338.1(7419-10850)
African clawed frog (Xenopus laevis)	Amphibia	MGC64545²	hypothetical protein MGC64545	73.03(n)		BC054291.1
thale cress (Arabidopsis thaliana)	eudicotyledons	HSD4¹	hydroxysteroid dehydrogenase 4	45.54(n) 33.8(a)		835128 NM_124447.1 NP_199871.1
rice (Oryza sativa)	Liliopsida	-- -- (see all 7)	dehydrogenase/reductase, putative, expressed (see all 7)	22(a) 21(a) (see all 7)	many ↔ many many ↔ many (see all 7)	12(16395531-16398065) 4(19061163-19063255)

ENSEMBL Gene Tree for HSD11B1 (if available)
TreeFam Gene Tree for HSD11B1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HSD11B1 gene

HSD11B1L²

1 SIMAP similar gene for HSD11B1 using alignment to 1 protein entry: DHI1_HUMAN:

HSD11B1L

HSD11B1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77922066^1,2	C,F,	--	180533064(+)	`TGAGCA/GGAAAT`	2	--	us2k¹		1	WA	118
rs45586237^1,2	C,	--	180533234(+)	`AAACGC/TCTTAA`	2	--	us2k¹		1	--	480
rs45594439^1,2	C,	--	180533414(+)	`AGAAAC/TATTGT`	2	--	us2k¹		1	--	480
rs11119325^1,2	C,F,A,H,	--	180533438(+)	`TATTAA/TAGGGC`	2	--	us2k¹		3	NA	604
rs45441700^1,2	C,F,	--	180533591(+)	`CTCTAC/TATAAA`	2	--	us2k¹		2	EA	600
rs45521040^1,2	C,	--	180533955(+)	`TATCTG/ATTGAA`	2	--	us2k¹		2	NA	480
rs45578933^1,2	F	--	180534108(+)	`CCTACT/ATACGG`	2	--	us2k¹		1	--	478
rs45498403^1,2	C,F	--	180534373(+)	`ATCTGA/TGAGTA`	2	--	us2k¹		2	--	956
rs45498592^1,2	C	--	180534879(+)	`AAGTCA/TGATTT`	2	--	ut5¹		1	--	480
rs45543238^1,2	C,F,	--	180534889(+)	`TGTTCG/AAAATC`	2	--	ut5¹		2	WA	598

HapMap Linkage Disequilibrium report for HSD11B1 (209859510 - 209908295 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HSD11B1: --
Human Gene Mutation Database (HGMD): HSD11B1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HSD11B1 for disorders           About GeneDecksing

OMIM gene information: 600713
OMIM disorders: 604931
UniProtKB/Swiss-Prot: DHI1_HUMAN, P28845

Defects in HSD11B1 are a cause of cortisone reductase deficiency (CRD) [MIM:604931]. In CRD, activation of

cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype

resembling polycystic ovary syndrome (PCOS)

20/63 diseases for HSD11B1 (see all 63): About MalaCards

cortisone reductase deficiency insulin resistance apparent mineralocorticoid excess syndrome van der woude syndrome

obesity patent ductus arteriosus glucose intolerance metabolic syndrome x

acth deficiency polycystic ovary syndrome growth hormone deficiency nonalcoholic steatohepatitis

type 2 diabetes mellitus cushing's syndrome inflammatory bowel disease adrenal adenoma

diabetes mellitus glucocorticoid resistance hypopituitarism metabolic disorders

4 diseases from the University of Copenhagen DISEASES database for HSD11B1:

Cushing's syndrome Diabetes mellitus Hypertension Apparent mineralocorticoid excess syndrome

10/40 Novoseek disease relationships for HSD11B1 gene (see all 40) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cortisone reductase deficiency	94.7	7	17062770 (1), 15466942 (1), 15827106 (1), 11469811 (1) (see all 6)
obesity	73.7	131	15356040 (5), 15181046 (3), 12649365 (3), 15356090 (3) (see all 80)
insulin resistance	69.4	46	17030962 (3), 16181237 (3), 15356040 (2), 19050176 (2) (see all 32)
insulin sensitivity	68.8	23	15181046 (2), 19675138 (2), 17555498 (2), 19704410 (2) (see all 17)
cushing syndrome	68.2	4	16914598 (2), 17766714 (1), 18209879 (1)
metabolic disorder	57.5	21	16181035 (1), 18336279 (1), 18973788 (1), 19429429 (1) (see all 17)
acth deficiency	57.3	1	10770221 (1)
dyslipidemia	51.5	6	15118095 (1), 14683456 (1), 18311666 (1), 15356090 (1)
metabolic syndrome x	49.1	3	16941796 (3)
polycystic ovary syndrome	44.9	6	19704410 (2), 15827106 (1), 15877012 (1), 10651756 (1)

Genetic Association Database (GAD): HSD11B1
Human Genome Epidemiology (HuGE) Navigator: HSD11B1 (42 documents)

Export disorders for HSD11B1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HSD11B1 gene, integrated from 9 sources (see all 448):
(articles sorted by number of sources associating them with HSD11B1)

Utopia: connect your pdf to the dynamic
world of online information

Association studies between microsatellite markers within the gene encoding human 11beta-hydroxysteroid dehydrogenase type 1 and body mass index, waist to hip ratio, and glucocorticoid metabolism. (PubMed id 12414862)^{1, 2, 4, 9} Draper N.... Stewart P.M. (2002)
The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization. (PubMed id 1885595)^{1, 2, 3} Tannin G.M.... White P.C. (1991)
Appropriate function of 11beta-hydroxysteroid dehydrogenase type 1 in the endoplasmic reticulum lumen is dependent on its N-terminal region sharing similar topological determinants with 50-kDa esterase. (PubMed id 15152005)^{1, 2, 9} Frick C.... Odermatt A. (2004)
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. (PubMed id 12858176)^{1, 2, 9} Draper N....Stewart P.M. (2003)
The N-terminal anchor sequences of 11beta-hydroxysteroid dehydrogenases determine their orientation in the endoplasmic reticulum membrane. (PubMed id 10497248)^{1, 2, 9} Odermatt A.... Frey F.J. (1999)
Dehydroepiandrosterone 7alpha-hydroxylation in human tissues: possible interference with type 1 11beta-hydroxysteroid dehydrogenase-mediated processes. (PubMed id 17467270)^{1, 6, 9} Hennebert O....Morfin R. (2007)
Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. (PubMed id 16091483)^{1, 4, 9} White P.C. (2005)
Conformational flexibility in crystal structures of human 11beta- hydroxysteroid dehydrogenase type I provide insights into glucocorticoid interconversion and enzyme regulation. (PubMed id 15513927)^{1, 2, 9} Hosfield D.J....Aertgeerts K. (2005)
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. (PubMed id 15827106)^{1, 4, 9} San Millan J.L....Escobar-Morreale H.F. (2005)
Molecular screening of the 11beta-HSD1 gene in men characterized by the metabolic syndrome. (PubMed id 15536220)^{1, 4, 9} Robitaille J....Vohl M.C. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3290	HGNC: 5208	AceView: HSD11B1	Ensembl:ENSG00000117594	euGenes: HUgn3290
ECgene: HSD11B1	Kegg: 3290	H-InvDB: HSD11B1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HSD11B1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HSD11B1 gene
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Patent Information for HSD11B1 gene:
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HSD11B1 Gene

hydroxysteroid (11-beta) dehydrogenase 1

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HSD11B1 Gene

hydroxysteroid (11-beta) dehydrogenase 1

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