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

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
7-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA
NADP binding	IDA	15513927 17919905 18069989 18485702 18553955 19217779
cortisol dehydrogenase activity	IEA
11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IBA IDA	10497248 15152005 17070044 17919905
steroid binding	IBA

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

short chain

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 10** 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:1168	familial hyperlipidemia	Alliance of Genome Resources
DOID:1824	status epilepticus	Alliance of Genome Resources
DOID:3393	coronary artery disease	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus	Alliance of Genome Resources
DOID:9970	obesity	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 79 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	15483		MGI:103562	MOUSE29224
Rattus norvegicus	25116		RGD:2834	RATNO06917
Bos taurus	282589			BOVIN08876
Xenopus laevis	379497		Xenbase:XB-GENE-960494
Ovis aries	443409			SHEEP04021
Canis lupus familiaris	449023			CANLF17102
Pan troglodytes	457698	9598_0:0000d8		PANTR23591
Macaca mulatta	574322			MACMU21843
Saccharomyces cerevisiae S288C	854853		SGD:S000001474
Saccharomyces cerevisiae S288C	854854		SGD:S000001475

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GlyComb

GlycoPOST

UniCarb-DR

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements