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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
endoplasmic reticulum membrane	IBA IDA TAS	10497248
membrane	HDA	19946888

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

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.

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 entries **1 - 10** of **181** in total

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0050589	inflammatory bowel disease	DisGeNET
DOID:0050766	choreaacanthocytosis	DisGeNET
DOID:0050782	Zollinger-Ellison syndrome	DisGeNET
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome	DisGeNET
DOID:0060185	Clostridium difficile colitis	DisGeNET
DOID:0060224	atrial fibrillation	DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0080199	colorectal carcinoma	DisGeNET

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 77 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Ciona intestinalis	100179203		CIOIN11616
Callorhinchus milii	103182506		CALMI25026
Latimeria chalumnae	102345616		LATCH19289
Danio rerio	100333777	ZFIN:ZDB-GENE-101130-4
Xenopus laevis	379497	Xenbase:XB-GENE-960494
Xenopus laevis	108709376	Xenbase:XB-GENE-17334232
Xenopus tropicalis	100489345	Xenbase:XB-GENE-960491
Pseudonaja textilis	113444330		PSETE16958
Meleagris gallopavo	100550517		MELGA08344
Serinus canaria	103823273		SERCA20289

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements