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FLASH GENE

Symbol

HSD11B1

contributors: mct - updated : 17-03-2009

HGNC name	hydroxysteroid (11-beta) dehydrogenase 1
HGNC id	5208

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CRD1 cortisone reductase deficiency1
Location	1q32.2      Physical location : 209.859.549 - 209.908.294
Synonym name	short chain dehydrogenase/reductase family 26C, member 1
	corticosteroid 11-beta-dehydrogenase isozyme 1
Synonym symbol(s)	HSD11B, HSD11L, HSD11, HDL, SDR26C1, 11-beta-HSD1, MGC13539
EC.number	1.1.1.146

DNA

TYPE	functioning gene
STRUCTURE	48.75 kb     7 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005525 6 - 1405 NP_005516 32.3 292 in decidua, placenta, liver, lung, spleen, kidney medulla, cerebellum and pituitary, but was absent in kidney cortex, sigmoid and rectal colon, salivary gland and thyroid 1995 7545619 NADP(H)-dependent (type 1) dehydrogenase/oxo-reductase enzyme NM_181755 7 - 1415 NP_861420 32.3 292 only in placenta and in the classical mineralocorticoid target tissues, kidney cortex, kidney medulla, sigmoid and rectal colon, salivary gland, and colonic epithelial cell lines 1995 7545619 predominantly in mineralocorticoid target tissues where it serves to protect the mineralocorticoid receptor in an autocrine fashion

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens Urinary epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to murine Hsd11b1
	homolog to C.elegans T25G12.7

Homologene

FAMILY

short-chain dehydrogenases/reductases (SDR) family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	hydroxysteroid dehydrogenase 11-beta 1, NADP dependent
	regulates glucocorticoid action at the pre-receptor stage by converting cortisone to cortisol
	playing a role in cell-to-cell signaling
	regenerates active cortisol from inactive cortisone
	bi-directional, vascular 11beta-HSD1 favors reactivation (reductase) over the deactivation (dehydrogenase) reaction, impairing Gc (glucocorticoids) deactivation (correlated with lower vascular resistance)
	implicated in the pathogenesis of central obesity and metabolic syndrome

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate , lipid/lipoprotein

signaling

glucocorticoid metabolism in liver, steroid metabolism

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	NADP

protein	with COX2 (co-localizes with COX2 in proximal tubule cells)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CRD1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in adipose tissues from obese constitutional     --over   linked to increasing age and alcohol intake

Susceptibility

to obesity

Variant & Polymorphism other	11beta-HSD1 activity increases with age, and is reduced in obese boys

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS