HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1) - Rat Genome Database

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Gene: HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1) Homo sapiens
Analyze
Symbol: HSD11B1
Name: hydroxysteroid 11-beta dehydrogenase 1
RGD ID: 737091
HGNC Page HGNC:5208
Description: Enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity; NADP binding activity; and protein homodimerization activity. Predicted to be involved in steroid catabolic process. Predicted to act upstream of or within lung development. Located in endoplasmic reticulum membrane. Implicated in cortisone reductase deficiency (multiple); hypertension (multiple); and type 2 diabetes mellitus. Biomarker of coronary artery disease and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 11-beta-HSD1; 11-beta-hydroxysteroid dehydrogenase 1; 11-DH; 7-oxosteroid reductase; corticosteroid 11-beta-dehydrogenase isozyme 1; CORTRD2; HDL; HSD11; HSD11B; HSD11L; hydroxysteroid (11-beta) dehydrogenase 1; MGC13539; SDR26C1; short chain dehydrogenase/reductase family 26C member 1; short chain dehydrogenase/reductase family 26C, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381209,686,179 - 209,734,929 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1209,686,178 - 209,734,949 (+)EnsemblGRCh38hg38GRCh38
GRCh371209,859,524 - 209,908,274 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361207,926,173 - 207,974,918 (+)NCBINCBI36Build 36hg18NCBI36
Build 341206,266,585 - 206,296,690NCBI
Celera1183,090,437 - 183,139,187 (+)NCBICelera
Cytogenetic Map1q32.2NCBI
HuRef1180,534,794 - 180,583,575 (+)NCBIHuRef
CHM1_11211,131,921 - 211,180,673 (+)NCBICHM1_1
T2T-CHM13v2.01208,932,934 - 208,981,687 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
11-dehydrocorticosterone  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3alpha,12alpha-dihydroxy-7-oxo-5beta-cholanic acid  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
7-oxolithocholic acid  (EXP)
8-Br-cAMP  (EXP)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
androstane-3,17-diol  (EXP)
arsenic acid  (ISO)
atrazine  (ISO)
azathioprine  (EXP)
benzamide  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) adipate  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP,ISO)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcitriol  (EXP)
CARBENOXOLONE  (EXP,ISO)
carbon nanotube  (EXP)
chenodeoxycholic acid  (EXP,ISO)
cholic acid  (ISO)
chromium atom  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
copper(II) chloride  (EXP)
cordycepin  (ISO)
corticosterone  (ISO)
cortisol  (EXP,ISO)
cortisone  (EXP,ISO)
crocidolite asbestos  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
deoxycholic acid  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
Di-n-hexyl phthalate  (ISO)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
Dicyclohexyl phthalate  (ISO)
diethyl hydrogen phosphate  (ISO)
diethylstilbestrol  (ISO)
diiodine  (ISO)
disulfiram  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
drospirenone  (EXP)
ethanol  (ISO)
fenofibrate  (EXP)
fenthion  (ISO)
ferric oxide  (ISO)
fipronil  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
furosemide  (ISO)
genistein  (ISO)
glycochenodeoxycholic acid  (ISO)
glycolithocholic acid  (ISO)
glycyrrhetinate  (EXP,ISO)
glycyrrhetinic acid  (EXP,ISO)
herbicide  (ISO)
hyodeoxycholic acid  (ISO)
indometacin  (EXP)
inulin  (ISO)
isotretinoin  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
lead diacetate  (EXP)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
mercaptopurine  (ISO)
methidathion  (ISO)
methotrexate  (EXP)
methoxychlor  (EXP)
metyrapone  (EXP)
mifepristone  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N,N-diethyl-m-toluamide  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
NADP zwitterion  (EXP,ISO)
NADP(+)  (EXP,ISO)
nickel atom  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
Nonylphenol  (ISO)
oxaliplatin  (ISO)
oxycodone  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (ISO)
perfluorododecanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perfluoroundecanoic acid  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
prednisolone  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
Propiverine  (ISO)
prostaglandin E2  (EXP)
purine-6-thiol  (ISO)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
SB 203580  (ISO)
serpentine asbestos  (EXP,ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium aurothiomalate  (EXP)
spironolactone  (ISO)
sulforaphane  (EXP)
taurolithocholic acid  (ISO)
tauroursodeoxycholic acid  (ISO)
tenofovir disoproxil fumarate  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
Tetrachlorobisphenol A  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
trimethyltin  (ISO)
triphenylstannane  (ISO)
troglitazone  (EXP,ISO)
ursodeoxycholic acid  (EXP,ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zearalenone  (ISO)
zidovudine  (EXP)
zinc protoporphyrin  (ISO)
zinc sulfate  (EXP)
ziram  (ISO)
zoledronic acid  (EXP)

References

References - curated
# Reference Title Reference Citation
1. The role of mediastinal adipose tissue 11β-hydroxysteroid d ehydrogenase type 1 and glucocorticoid expression in the development of coronary atherosclerosis in obese patients with ischemic heart disease. Atalar F, etal., Cardiovasc Diabetol. 2012 Sep 25;11:115. doi: 10.1186/1475-2840-11-115.
2. 11β-hydroxysteroid dehydrogenase type 1 gene expression is increased in ascending aorta tissue of metabolic syndrome patients with coronary artery disease. Atalar F, etal., Genet Mol Res. 2012 Aug 31;11(3):3122-32. doi: 10.4238/2012.August.31.10.
3. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
4. Association of HSD11B1 gene polymorphisms with type 2 diabetes and metabolic syndrome in South Indian population. Devang N, etal., Diabetes Res Clin Pract. 2017 Sep;131:142-148. doi: 10.1016/j.diabres.2017.07.011. Epub 2017 Jul 13.
5. Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Draper N, etal., Nat Genet. 2003 Aug;34(4):434-9.
6. Interaction between an 11betaHSD1 gene variant and birth era modifies the risk of hypertension in Pima Indians. Franks PW, etal., Hypertension. 2004 Nov;44(5):681-8. doi: 10.1161/01.HYP.0000144294.28985.d5. Epub 2004 Sep 27.
7. A combination of polymorphisms in HSD11B1 associates with in vivo 11{beta}-HSD1 activity and metabolic syndrome in women with and without polycystic ovary syndrome. Gambineri A, etal., Eur J Endocrinol. 2011 Aug;165(2):283-92. doi: 10.1530/EJE-11-0091. Epub 2011 May 27.
8. Association between a 11β-hydroxysteroid dehydrogenase type 1 gene polymorphism and metabolic syndrome in a South Indian population. Gandhi K, etal., Metab Syndr Relat Disord. 2013 Dec;11(6):397-402. doi: 10.1089/met.2013.0049. Epub 2013 Jul 20.
9. Association between ins4436A in 11beta-hydroxysteroid dehydrogenase type 1 gene and essential hypertension in Polish population. Hejduk P, etal., Postepy Hig Med Dosw (Online). 2015 Nov 17;69:1245-50.
10. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
11. Adipose tissue 11beta-hydroxysteroid dehydrogenase type 1 expression in obesity and Cushing's syndrome. Mariniello B, etal., Eur J Endocrinol. 2006 Sep;155(3):435-41.
12. Variants in HSD11B1 gene modulate susceptibility to diabetes kidney disease and to insulin resistance in type 1 diabetes. Mori RC, etal., Diabetes Metab Res Rev. 2021 Jan;37(1):e3352. doi: 10.1002/dmrr.3352. Epub 2020 Jun 21.
13. 11β-HSD1 suppresses cardiac fibroblast CXCL2, CXCL5 and neutrophil recruitment to the heart post MI. Mylonas KJ, etal., J Endocrinol. 2017 Jun;233(3):315-327. doi: 10.1530/JOE-16-0501.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
17. Common variation at the 11-β hydroxysteroid dehydrogenase type 1 gene is associated with left ventricular mass. Rahman TJ, etal., Circ Cardiovasc Genet. 2011 Apr;4(2):156-62. doi: 10.1161/CIRCGENETICS.110.958496. Epub 2011 Mar 14.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. Metabolic gene expression changes in the hippocampus of obese epileptic male rats in the pilocarpine model of temporal lobe epilepsy. Ruiz N, etal., Brain Res. 2011 Dec 2;1426:86-95. Epub 2011 Oct 8.
22. Glucocorticoid synthesis-related genes: HSD11B1 and HSD11B2 in hypertensive disorders in pregnancy. Shimodaira M, etal., Gynecol Endocrinol. 2013 Jul;29(7):657-61. doi: 10.3109/09513590.2013.788623. Epub 2013 May 9.
23. Mechanisms of disease: Selective inhibition of 11beta-hydroxysteroid dehydrogenase type 1 as a novel treatment for the metabolic syndrome. Tomlinson JW and Stewart PM, Nat Clin Pract Endocrinol Metab. 2005 Dec;1(2):92-9.
24. Cardiomyocyte and Vascular Smooth Muscle-Independent 11beta-Hydroxysteroid Dehydrogenase 1 Amplifies Infarct Expansion, Hypertrophy, and the Development of Heart Failure After Myocardial Infarction in Male Mice. White CI, etal., Endocrinology. 2016 Jan;157(1):346-57. doi: 10.1210/en.2015-1630. Epub 2015 Oct 14.
Additional References at PubMed
PMID:1885595   PMID:7545619   PMID:7670488   PMID:9034789   PMID:9543163   PMID:9555943   PMID:10497248   PMID:10497258   PMID:10645953   PMID:10962348   PMID:11114699   PMID:11755176  
PMID:11956655   PMID:12109593   PMID:12202416   PMID:12390875   PMID:12414862   PMID:12477932   PMID:12530648   PMID:12530692   PMID:12788882   PMID:12861241   PMID:12915682   PMID:12915696  
PMID:12960005   PMID:14557491   PMID:14583441   PMID:14682470   PMID:14742837   PMID:15095019   PMID:15152005   PMID:15156315   PMID:15167446   PMID:15172126   PMID:15181046   PMID:15280030  
PMID:15455200   PMID:15466942   PMID:15489334   PMID:15513927   PMID:15536220   PMID:15583024   PMID:15591536   PMID:15827106   PMID:15855321   PMID:15941907   PMID:16091483   PMID:16236446  
PMID:16343739   PMID:16368752   PMID:16406280   PMID:16412558   PMID:16469798   PMID:16551740   PMID:16580270   PMID:16603347   PMID:16622297   PMID:16710414   PMID:16855188   PMID:16996097  
PMID:17032748   PMID:17062770   PMID:17070044   PMID:17306259   PMID:17467270   PMID:17495191   PMID:17519316   PMID:17588937   PMID:17766714   PMID:17825335   PMID:17912154   PMID:17919905  
PMID:17922306   PMID:18031327   PMID:18069989   PMID:18261751   PMID:18313835   PMID:18379559   PMID:18388900   PMID:18434359   PMID:18485702   PMID:18553955   PMID:18573267   PMID:18592327  
PMID:18611262   PMID:18633104   PMID:18665910   PMID:18716005   PMID:18769825   PMID:18778749   PMID:18818748   PMID:18837961   PMID:18963204   PMID:19010388   PMID:19019335   PMID:19022342  
PMID:19022912   PMID:19027726   PMID:19088256   PMID:19121282   PMID:19129713   PMID:19158196   PMID:19167490   PMID:19217779   PMID:19235128   PMID:19251840   PMID:19282465   PMID:19336370  
PMID:19429429   PMID:19453261   PMID:19491387   PMID:19527514   PMID:19535162   PMID:19540999   PMID:19542242   PMID:19549748   PMID:19564704   PMID:19567539   PMID:19571556   PMID:19598235  
PMID:19651257   PMID:19675138   PMID:19690925   PMID:19806478   PMID:19876004   PMID:19880789   PMID:19913121   PMID:19934376   PMID:19946888   PMID:20041117   PMID:20045052   PMID:20100573  
PMID:20140262   PMID:20214802   PMID:20416077   PMID:20486282   PMID:20514603   PMID:20628086   PMID:20739946   PMID:20800085   PMID:20826586   PMID:21111044   PMID:21147223   PMID:21189603  
PMID:21215738   PMID:21249616   PMID:21266326   PMID:21267686   PMID:21304964   PMID:21325058   PMID:21362233   PMID:21453287   PMID:21544007   PMID:21695543   PMID:21704348   PMID:21736538  
PMID:21825133   PMID:21869537   PMID:21873635   PMID:21988832   PMID:22112815   PMID:22136330   PMID:22179810   PMID:22207732   PMID:22238371   PMID:22310475   PMID:22357964   PMID:22384521  
PMID:22445027   PMID:22719058   PMID:22986073   PMID:23017470   PMID:23090578   PMID:23190557   PMID:23362866   PMID:23375992   PMID:23612224   PMID:23678035   PMID:23701286   PMID:23722901  
PMID:23778418   PMID:23836520   PMID:23874920   PMID:23979790   PMID:24054540   PMID:24055708   PMID:24061267   PMID:24086653   PMID:24122936   PMID:24147632   PMID:24149070   PMID:24243637  
PMID:24285685   PMID:24391882   PMID:24447082   PMID:24667918   PMID:24729284   PMID:24810847   PMID:24915124   PMID:24969481   PMID:25393644   PMID:25436731   PMID:25659145   PMID:25666420  
PMID:25751397   PMID:25788665   PMID:25989394   PMID:26163245   PMID:26186194   PMID:26212138   PMID:26452272   PMID:26528718   PMID:26934392   PMID:27018008   PMID:27083553   PMID:27219880  
PMID:27268236   PMID:27507896   PMID:27533889   PMID:27544778   PMID:27697223   PMID:27698011   PMID:27715400   PMID:27721188   PMID:28065597   PMID:28237720   PMID:28514442   PMID:28619249  
PMID:28698139   PMID:28765040   PMID:28793178   PMID:28994390   PMID:29078846   PMID:29162555   PMID:29474943   PMID:30445609   PMID:30678666   PMID:30796905   PMID:30825506   PMID:30902677  
PMID:31039398   PMID:31704233   PMID:31753913   PMID:31902257   PMID:31922957   PMID:32336752   PMID:32360870   PMID:32880710   PMID:32945429   PMID:33214595   PMID:33639236   PMID:33722534  
PMID:33961781   PMID:34072239   PMID:34639470   PMID:34845968   PMID:36446766   PMID:37280272   PMID:37855366   PMID:37943405   PMID:39049478  


Genomics

Comparative Map Data
HSD11B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381209,686,179 - 209,734,929 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1209,686,178 - 209,734,949 (+)EnsemblGRCh38hg38GRCh38
GRCh371209,859,524 - 209,908,274 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361207,926,173 - 207,974,918 (+)NCBINCBI36Build 36hg18NCBI36
Build 341206,266,585 - 206,296,690NCBI
Celera1183,090,437 - 183,139,187 (+)NCBICelera
Cytogenetic Map1q32.2NCBI
HuRef1180,534,794 - 180,583,575 (+)NCBIHuRef
CHM1_11211,131,921 - 211,180,673 (+)NCBICHM1_1
T2T-CHM13v2.01208,932,934 - 208,981,687 (+)NCBIT2T-CHM13v2.0
Hsd11b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391192,903,917 - 192,946,345 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1192,903,942 - 192,946,383 (-)EnsemblGRCm39 Ensembl
GRCm381193,221,640 - 193,264,045 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1193,221,634 - 193,264,075 (-)EnsemblGRCm38mm10GRCm38
MGSCv371195,047,834 - 195,090,239 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361194,922,413 - 194,964,769 (-)NCBIMGSCv36mm8
Celera1200,096,784 - 200,141,189 (-)NCBICelera
Cytogenetic Map1H6NCBI
cM Map197.67NCBI
Hsd11b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr813107,277,526 - 107,327,462 (-)NCBIGRCr8
mRatBN7.213104,728,539 - 104,798,884 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl13104,728,539 - 104,788,687 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx13107,266,432 - 107,292,403 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013108,650,289 - 108,676,261 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.013105,868,245 - 105,894,215 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013111,946,626 - 111,996,536 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13111,926,442 - 111,972,603 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013116,502,230 - 116,551,778 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413109,063,491 - 109,089,468 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.113109,252,609 - 109,278,318 (-)NCBI
Celera13104,178,893 - 104,204,865 (-)NCBICelera
Cytogenetic Map13q27NCBI
Hsd11b1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554892,497,680 - 2,524,805 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554892,500,928 - 2,524,715 (-)NCBIChiLan1.0ChiLan1.0
HSD11B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2139,662,235 - 39,715,349 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1139,632,569 - 39,681,576 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01185,262,599 - 185,311,417 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11190,086,449 - 190,116,765 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1190,086,449 - 190,116,765 (+)Ensemblpanpan1.1panPan2
HSD11B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.178,344,380 - 8,409,901 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl78,344,447 - 8,409,897 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha77,959,522 - 7,986,906 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.078,045,319 - 8,110,393 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl78,045,392 - 8,110,389 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.178,012,426 - 8,039,787 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.078,109,437 - 8,136,847 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.078,170,917 - 8,198,302 (+)NCBIUU_Cfam_GSD_1.0
Hsd11b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934466,118,456 - 66,179,043 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365573,357,016 - 3,403,714 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365573,358,809 - 3,403,461 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSD11B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9133,231,451 - 133,278,396 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19133,231,451 - 133,278,396 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HSD11B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12519,720,096 - 19,772,806 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2519,719,848 - 19,750,200 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605520,319,360 - 20,369,697 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hsd11b1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248072,261,006 - 2,293,804 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248072,260,702 - 2,293,962 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSD11B1
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys) single nucleotide variant Cortisone reductase deficiency 2 [RCV000024294] Chr1:209707020 [GRCh38]
Chr1:209880365 [GRCh37]
Chr1:1q32.2
pathogenic
NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn) single nucleotide variant Cortisone reductase deficiency 2 [RCV000024295] Chr1:209732479 [GRCh38]
Chr1:209905824 [GRCh37]
Chr1:1q32.2
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.2-32.3(chr1:208063461-211907812)x1 copy number loss See cases [RCV000138122] Chr1:208063461..211907812 [GRCh38]
Chr1:208236806..212081154 [GRCh37]
Chr1:206303429..210147777 [NCBI36]
Chr1:1q32.2-32.3
likely benign
GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1 copy number loss See cases [RCV000139025] Chr1:207583527..210159181 [GRCh38]
Chr1:207756872..210332526 [GRCh37]
Chr1:205823495..208399149 [NCBI36]
Chr1:1q32.2
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_005525.4(HSD11B1):c.331+53dup duplication Cortisone reductase deficiency 2 [RCV003486826] Chr1:209706871..209706872 [GRCh38]
Chr1:209880216..209880217 [GRCh37]
Chr1:1q32.2
benign|uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q32.2(chr1:209742722-210774573)x1 copy number loss See cases [RCV000446748] Chr1:209742722..210774573 [GRCh37]
Chr1:1q32.2
pathogenic
NM_005525.4(HSD11B1):c.744G>C (p.Gly248=) single nucleotide variant HSD11B1-related disorder [RCV003935291]|not provided [RCV000950071]|not specified [RCV000504142] Chr1:209734386 [GRCh38]
Chr1:209907731 [GRCh37]
Chr1:1q32.2
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_005525.4(HSD11B1):c.518-9G>A single nucleotide variant not provided [RCV000969422] Chr1:209732427 [GRCh38]
Chr1:209905772 [GRCh37]
Chr1:1q32.2
benign
NM_005525.4(HSD11B1):c.117C>T (p.Val39=) single nucleotide variant not provided [RCV000919810] Chr1:209705839 [GRCh38]
Chr1:209879184 [GRCh37]
Chr1:1q32.2
benign
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3
uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q32.2(chr1:208703835-210154164)x3 copy number gain not provided [RCV001259105] Chr1:208703835..210154164 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.332-29T>G single nucleotide variant Cortisone reductase deficiency 2 [RCV001258229]|not provided [RCV004715134] Chr1:209706914 [GRCh38]
Chr1:209880259 [GRCh37]
Chr1:1q32.2
benign
NM_005525.4(HSD11B1):c.517+8G>A single nucleotide variant not provided [RCV002224786] Chr1:209707136 [GRCh38]
Chr1:209880481 [GRCh37]
Chr1:1q32.2
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_005525.4(HSD11B1):c.320G>C (p.Gly107Ala) single nucleotide variant not specified [RCV004322578] Chr1:209706809 [GRCh38]
Chr1:209880154 [GRCh37]
Chr1:1q32.2
uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3
pathogenic
NM_005525.4(HSD11B1):c.707C>T (p.Ala236Val) single nucleotide variant not specified [RCV004144903] Chr1:209734349 [GRCh38]
Chr1:209907694 [GRCh37]
Chr1:1q32.2
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_005525.4(HSD11B1):c.482G>A (p.Ser161Asn) single nucleotide variant not specified [RCV004153121] Chr1:209707093 [GRCh38]
Chr1:209880438 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.502G>A (p.Val168Ile) single nucleotide variant not specified [RCV004223923] Chr1:209707113 [GRCh38]
Chr1:209880458 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.29C>T (p.Pro10Leu) single nucleotide variant not specified [RCV004272521] Chr1:209704971 [GRCh38]
Chr1:209878316 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.647G>C (p.Gly216Ala) single nucleotide variant not specified [RCV004351243] Chr1:209732565 [GRCh38]
Chr1:209905910 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.678_679insT (p.Val227fs) insertion Exstrophy-epispadias complex [RCV003389428] Chr1:209734320..209734321 [GRCh38]
Chr1:209907665..209907666 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.165G>A (p.Ala55=) single nucleotide variant HSD11B1-related disorder [RCV003937396] Chr1:209705887 [GRCh38]
Chr1:209879232 [GRCh37]
Chr1:1q32.2
benign
NM_005525.4(HSD11B1):c.262T>C (p.Tyr88His) single nucleotide variant not specified [RCV004404423] Chr1:209706751 [GRCh38]
Chr1:209880096 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.289A>T (p.Thr97Ser) single nucleotide variant not specified [RCV004404424] Chr1:209706778 [GRCh38]
Chr1:209880123 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.407T>A (p.Val136Glu) single nucleotide variant not specified [RCV004404425] Chr1:209707018 [GRCh38]
Chr1:209880363 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.845C>T (p.Thr282Met) single nucleotide variant not specified [RCV004404426] Chr1:209734487 [GRCh38]
Chr1:209907832 [GRCh37]
Chr1:1q32.2
uncertain significance
NM_005525.4(HSD11B1):c.361A>G (p.Ile121Val) single nucleotide variant not specified [RCV004633169] Chr1:209706972 [GRCh38]
Chr1:209880317 [GRCh37]
Chr1:1q32.2
uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:436
Count of miRNA genes:161
Interacting mature miRNAs:169
Transcripts:ENST00000261465, ENST00000367027, ENST00000367028
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407289253GWAS938229_Hbody height QTL GWAS938229 (human)5e-35body height (VT:0001253)body height (CMO:0000106)1209715090209715091Human
407250011GWAS898987_Herythrocyte count QTL GWAS898987 (human)2e-12erythrocyte countred blood cell count (CMO:0000025)1209721440209721441Human
407339626GWAS988602_Hmean corpuscular hemoglobin QTL GWAS988602 (human)2e-12mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)1209727264209727265Human

Markers in Region
PMC310500P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,907,621 - 209,907,822UniSTSGRCh37
Build 361207,974,244 - 207,974,445RGDNCBI36
Celera1183,138,513 - 183,138,714RGD
Cytogenetic Map1q32-q41UniSTS
HuRef1180,582,901 - 180,583,102UniSTS
D1S2136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,871,457 - 209,871,700UniSTSGRCh37
Build 361207,938,080 - 207,938,323RGDNCBI36
Celera1183,102,347 - 183,102,586RGD
Cytogenetic Map1q32-q41UniSTS
HuRef1180,546,735 - 180,546,974UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH69177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,907,975 - 209,908,242UniSTSGRCh37
Build 361207,974,598 - 207,974,865RGDNCBI36
Celera1183,138,867 - 183,139,134RGD
Cytogenetic Map1q32-q41UniSTS
HuRef1180,583,255 - 180,583,522UniSTS
GeneMap99-GB4 RH Map1691.06UniSTS
NCBI RH Map11870.1UniSTS
SHGC-76294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371209,880,056 - 209,880,408UniSTSGRCh37
Build 361207,946,679 - 207,947,031RGDNCBI36
Celera1183,110,942 - 183,111,294RGD
Cytogenetic Map1q32-q41UniSTS
HuRef1180,555,330 - 180,555,682UniSTS
TNG Radiation Hybrid Map1103254.0UniSTS
GeneMap99-GB4 RH Map1691.06UniSTS
NCBI RH Map11870.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2343 2787 2234 4726 1687 2190 5 597 1498 440 2064 6723 6015 40 3683 803 1672 1484 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH006349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG619051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM994393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX345837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB530075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF596989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF597174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261465   ⟹   ENSP00000261465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1209,686,269 - 209,734,478 (+)Ensembl
Ensembl Acc Id: ENST00000367027   ⟹   ENSP00000355994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1209,704,846 - 209,734,929 (+)Ensembl
Ensembl Acc Id: ENST00000367028   ⟹   ENSP00000355995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1209,686,180 - 209,734,949 (+)Ensembl
Ensembl Acc Id: ENST00000615289   ⟹   ENSP00000478430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1209,686,178 - 209,732,465 (+)Ensembl
RefSeq Acc Id: NM_001206741   ⟹   NP_001193670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,686,179 - 209,734,929 (+)NCBI
GRCh371209,859,525 - 209,908,295 (+)ENTREZGENE
HuRef1180,534,794 - 180,583,575 (+)ENTREZGENE
CHM1_11211,131,921 - 211,180,673 (+)NCBI
T2T-CHM13v2.01208,932,934 - 208,981,687 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005525   ⟹   NP_005516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,704,846 - 209,734,929 (+)NCBI
GRCh371209,859,525 - 209,908,295 (+)ENTREZGENE
Build 361207,944,814 - 207,974,918 (+)NCBI Archive
HuRef1180,534,794 - 180,583,575 (+)ENTREZGENE
CHM1_11211,150,550 - 211,180,673 (+)NCBI
T2T-CHM13v2.01208,951,593 - 208,981,687 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181755   ⟹   NP_861420
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,686,179 - 209,734,929 (+)NCBI
GRCh371209,859,525 - 209,908,295 (+)ENTREZGENE
Build 361207,926,173 - 207,974,918 (+)NCBI Archive
HuRef1180,534,794 - 180,583,575 (+)ENTREZGENE
CHM1_11211,131,921 - 211,180,673 (+)NCBI
T2T-CHM13v2.01208,932,934 - 208,981,687 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001193670   ⟸   NM_001206741
- UniProtKB: B2R9Z1 (UniProtKB/Swiss-Prot),   D3DT89 (UniProtKB/Swiss-Prot),   P28845 (UniProtKB/Swiss-Prot),   X5D2L1 (UniProtKB/TrEMBL),   A0A0A0MQV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_861420   ⟸   NM_181755
- UniProtKB: B2R9Z1 (UniProtKB/Swiss-Prot),   D3DT89 (UniProtKB/Swiss-Prot),   P28845 (UniProtKB/Swiss-Prot),   X5D2L1 (UniProtKB/TrEMBL),   A0A0A0MQV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005516   ⟸   NM_005525
- UniProtKB: B2R9Z1 (UniProtKB/Swiss-Prot),   D3DT89 (UniProtKB/Swiss-Prot),   P28845 (UniProtKB/Swiss-Prot),   X5D2L1 (UniProtKB/TrEMBL),   A0A0A0MQV1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000478430   ⟸   ENST00000615289
Ensembl Acc Id: ENSP00000355994   ⟸   ENST00000367027
Ensembl Acc Id: ENSP00000355995   ⟸   ENST00000367028
Ensembl Acc Id: ENSP00000261465   ⟸   ENST00000261465

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28845-F1-model_v2 AlphaFold P28845 1-292 view protein structure

Promoters
RGD ID:6785739
Promoter ID:HG_KWN:7166
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_005525
Position:
Human AssemblyChrPosition (strand)Source
Build 361207,943,711 - 207,944,211 (+)MPROMDB
RGD ID:6858864
Promoter ID:EPDNEW_H2597
Type:initiation region
Name:HSD11B1_2
Description:hydroxysteroid 11-beta dehydrogenase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2598  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,686,190 - 209,686,250EPDNEW
RGD ID:6858866
Promoter ID:EPDNEW_H2598
Type:initiation region
Name:HSD11B1_1
Description:hydroxysteroid 11-beta dehydrogenase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2597  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381209,704,848 - 209,704,908EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5208 AgrOrtholog
COSMIC HSD11B1 COSMIC
Ensembl Genes ENSG00000117594 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261465.5 UniProtKB/TrEMBL
  ENST00000367027 ENTREZGENE
  ENST00000367027.5 UniProtKB/Swiss-Prot
  ENST00000367028 ENTREZGENE
  ENST00000367028.6 UniProtKB/Swiss-Prot
  ENST00000615289.4 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117594 GTEx
HGNC ID HGNC:5208 ENTREZGENE
Human Proteome Map HSD11B1 Human Proteome Map
InterPro 11-beta-HSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3290 ENTREZGENE
OMIM 600713 OMIM
PANTHER CORTICOSTEROID 11-BETA-DEHYDROGENASE ISOZYME 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HYDROXYSTEROID (11-BETA) DEHYDROGENASE 1-LIKE B-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29476 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADH_SHORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WU76_HUMAN UniProtKB/TrEMBL
  A0A0A0MQV1 ENTREZGENE, UniProtKB/TrEMBL
  B2R9Z1 ENTREZGENE
  D3DT89 ENTREZGENE
  DHI1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X5D2L1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R9Z1 UniProtKB/Swiss-Prot
  D3DT89 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 HSD11B1  hydroxysteroid 11-beta dehydrogenase 1  HSD11B1  hydroxysteroid (11-beta) dehydrogenase 1  Symbol and/or name change 5135510 APPROVED