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hydroxysteroid 11-beta dehydrogenase 1

Summary

Gene Symbol

HSD11B1

Aliases

SDR26C1
short chain dehydrogenase/reductase family 26C, member 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

3290

HGNC

5208

KEGG Gene ID

hsa:3290

PubChem

3290

Alliance of Genome Resources

HGNC:5208

Annotation

Keyword

3D-structure
Disease variant
Endoplasmic reticulum
Glycoprotein
NADP
Oxidoreductase
Reference proteome
Signal-anchor
Steroid metabolism
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
P28845	7-oxosteroid reductase Corticosteroid 11-beta-dehydrogenase isozyme 1 Short chain dehydrogenase/reductase family 26C member 1
X5D2L1	7-oxosteroid reductase Corticosteroid 11-beta-dehydrogenase isozyme 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 2** entries
GO Term	Evidence Code	PMID
steroid catabolic process	IBA
lung development	IEA

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

organic substance catabolic process [inference]

lipid catabolic process [inference]

steroid catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid catabolic process

lipid catabolic process [inference]

steroid catabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid catabolic process

lipid catabolic process [inference]

steroid catabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

steroid catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

lung development

Displaying **all 5** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IDA	10497248
endoplasmic reticulum membrane	IBA
membrane	HDA	19946888
intracellular membrane-bounded organelle	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle

intracellular organelle [inference]

intracellular membrane-bounded organelle

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GO Term	Evidence Code	PMID
steroid binding	IBA
protein homodimerization activity	IDA	15513927 17919905 18069989 18485702 18553955 19217779
7-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA
NADP binding	IDA	15513927 17919905 18069989 18485702 18553955 19217779
11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IDA	10497248 15152005 17070044 17919905

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

steroid dehydrogenase activity [inference]

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity [inference]

11-beta-hydroxysteroid dehydrogenase (NADP+) activity

7-beta-hydroxysteroid dehydrogenase (NADP+) activity

oxidoreductase activity, acting on CH-OH group of donors [inference]

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity [inference]

11-beta-hydroxysteroid dehydrogenase (NADP+) activity

7-beta-hydroxysteroid dehydrogenase (NADP+) activity

cortisol dehydrogenase activity

binding [inference]

protein binding [inference]

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

lipid binding [inference]

steroid binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NADP binding

organic cyclic compound binding [inference]

steroid binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NADP binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

dehydrogenase

Functional Category

E: Amino acid transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
oxidoreductase activity

Displaying **all 2** entries
InterPro
NAD(P)-binding domain superfamily
Short-chain dehydrogenase/reductase SDR

Human Protein Atlas

ENSG00000117594

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K15680

Name

corticosteroid 11-beta-dehydrogenase isozyme 1 [EC:1.1.1.146]

References

Rhea

RHEA:11388

an 11β-hydroxysteroid + NADP⁺

H⁺ + an 11-oxosteroid + NADPH

Enzyme

1.1.1.146

PMID

RHEA:20233

a 7β-hydroxysteroid + NADP⁺

H⁺ + a 7-oxosteroid + NADPH

Enzyme

1.1.1.201

PMID

Disease

Disease Ontology

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:0090139	cortisone reductase deficiency	Alliance of Genome Resources
DOID:0090140	cortisone reductase deficiency 2	Alliance of Genome Resources
DOID:10591	pre-eclampsia	Alliance of Genome Resources
DOID:10763	hypertension	Alliance of Genome Resources
DOID:10825	essential hypertension	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying **all 7** entries
HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000855	Insulin resistance
HP:0000956	Acanthosis nigricans
HP:0001513	Obesity
HP:0003621	Juvenile onset
HP:0005616	Accelerated skeletal maturation
HP:0012411	Premature pubarche

Displaying 1 entry
Disease ID	Disease Name
OMIM:614662	cortisone reductase deficiency 2

PubChem Disease

MedGen Diseases

Cortisone reductase deficiency 2

OMIM Phenotypes

CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2

KEGG Diseases

Cortisone reductase deficiency

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001084
Gene Name: hydroxysteroid (11-beta) dehydrogenase 1

Ortholog

Displaying entries **1 - 10** of 73 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	3290	Xenbase:XB-GENE-960491
Mus musculus	15483	Xenbase:XB-GENE-960491	MOUSE29224
Rattus norvegicus	25116	Xenbase:XB-GENE-960491	RATNO06917
Bos taurus	282589		BOVIN08876
Ovis aries	443409		SHEEP04021
Canis lupus familiaris	449023		CANLF17102
Pan troglodytes	457698		PANTR23591
Macaca mulatta	574322		MACMU21843
Equus caballus	100056429		HORSE35502
Ornithorhynchus anatinus	100079059		ORNAN24465

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements