Hsd11b1 (hydroxysteroid 11-beta dehydrogenase 1)

Gene: Hsd11b1 (hydroxysteroid 11-beta dehydrogenase 1) Ictidomys tridecemlineatus

Analyze

Symbol:

Hsd11b1

Name:

hydroxysteroid 11-beta dehydrogenase 1

RGD ID:

12551815

Description:

ENCODES a protein that exhibits NADP binding (ortholog); steroid binding (ortholog); INVOLVED IN cellular response to estradiol stimulus (ortholog); glucocorticoid biosynthetic process (ortholog); glucocorticoid catabolic process (ortholog); PARTICIPATES IN 11-beta-hydroxylase deficiency pathway; 17-alpha-hydroxylase deficiency pathway; 21-alpha-hydroxylase deficiency pathway; ASSOCIATED WITH Abdominal Obesity (ortholog); allergic contact dermatitis (ortholog); bladder exstrophy-epispadias-cloacal exstrophy complex (ortholog); FOUND IN apical part of cell (ortholog); nuclear membrane (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

corticosteroid 11-beta-dehydrogenase isozyme 1

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	66,118,456 - 66,179,043 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936557	3,357,016 - 3,403,714 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936557	3,358,809 - 3,403,461 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Abdominal Obesity (ISO)

allergic contact dermatitis (ISO)

bladder exstrophy-epispadias-cloacal exstrophy complex (ISO)

coronary artery disease (ISO)

cortisone reductase deficiency (ISO)

cortisone reductase deficiency 2 (ISO)

Diabetic Nephropathies (ISO)

essential hypertension (ISO)

Experimental Diabetes Mellitus (ISO)

familial hyperlipidemia (ISO)

gastrointestinal stromal tumor (ISO)

genetic disease (ISO)

hyperglycemia (ISO)

hypertension (ISO)

Insulin Resistance (ISO)

Left Ventricular Hypertrophy (ISO)

Metabolic Syndrome (ISO)

myocardial infarction (ISO)

obesity (ISO)

parathyroid carcinoma (ISO)

pre-eclampsia (ISO)

rheumatoid arthritis (ISO)

status epilepticus (ISO)

type 2 diabetes mellitus (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to estradiol stimulus (ISO)

glucocorticoid biosynthetic process (ISO)

glucocorticoid catabolic process (ISO)

lung development (IEA,ISO)

mineralocorticoid metabolic process (ISO)

regulation of pentose-phosphate shunt (ISO)

response to nutrient levels (ISO)

steroid catabolic process (IEA)

Cellular Component

apical part of cell (ISO)

endoplasmic reticulum membrane (IEA)

intracellular membrane-bounded organelle (IEA)

nuclear membrane (ISO)

Molecular Function

11-beta-hydroxysteroid dehydrogenase (NADP+) activity (IEA)

NADP binding (IEA,ISO)

oxidoreductase activity (IEA)

protein homodimerization activity (IEA)

steroid binding (IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

11-beta-hydroxylase deficiency pathway (ISO)

17-alpha-hydroxylase deficiency pathway (ISO)

21-alpha-hydroxylase deficiency pathway (ISO)

apparent mineralocorticoid excess syndrome pathway (ISO)

lipoid congenital adrenal hyperplasia pathway (ISO)

steroid hormone biosynthetic pathway (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Hsd11b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	66,118,456 - 66,179,043 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936557	3,357,016 - 3,403,714 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936557	3,358,809 - 3,403,461 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HSD11B1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	209,686,179 - 209,734,929 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	209,686,178 - 209,734,949 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	209,859,524 - 209,908,274 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	207,926,173 - 207,974,918 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	206,266,585 - 206,296,690	NCBI
Celera	1	183,090,437 - 183,139,187 (+)	NCBI		Celera
Cytogenetic Map	1	q32.2	NCBI
HuRef	1	180,534,794 - 180,583,575 (+)	NCBI		HuRef
CHM1_1	1	211,131,921 - 211,180,673 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	208,932,934 - 208,981,687 (+)	NCBI		T2T-CHM13v2.0

Hsd11b1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	192,903,917 - 192,946,345 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	192,903,942 - 192,946,383 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	193,221,640 - 193,264,045 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	193,221,634 - 193,264,075 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	195,047,834 - 195,090,239 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	194,922,413 - 194,964,769 (-)	NCBI		MGSCv36	mm8
Celera	1	200,096,784 - 200,141,189 (-)	NCBI		Celera
Cytogenetic Map	1	H6	NCBI
cM Map	1	97.67	NCBI

Hsd11b1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	107,277,526 - 107,327,462 (-)	NCBI		GRCr8
mRatBN7.2	13	104,728,539 - 104,798,884 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	104,728,539 - 104,788,687 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	107,266,432 - 107,292,403 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	108,650,289 - 108,676,261 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	105,868,245 - 105,894,215 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	111,946,626 - 111,996,536 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	111,926,442 - 111,972,603 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	116,502,230 - 116,551,778 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	109,063,491 - 109,089,468 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	109,252,609 - 109,278,318 (-)	NCBI
Celera	13	104,178,893 - 104,204,865 (-)	NCBI		Celera
Cytogenetic Map	13	q27	NCBI

Hsd11b1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955489	2,497,680 - 2,524,805 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955489	2,500,928 - 2,524,715 (-)	NCBI	ChiLan1.0	ChiLan1.0

HSD11B1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	39,662,235 - 39,715,349 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	39,632,569 - 39,681,576 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	185,262,599 - 185,311,417 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	190,086,449 - 190,116,765 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	190,086,449 - 190,116,765 (+)	Ensembl	panpan1.1		panPan2

HSD11B1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	7	8,344,380 - 8,409,901 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	7	8,344,447 - 8,409,897 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	7	7,959,522 - 7,986,906 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	7	8,045,319 - 8,110,393 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	7	8,045,392 - 8,110,389 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	7	8,012,426 - 8,039,787 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	7	8,109,437 - 8,136,847 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	7	8,170,917 - 8,198,302 (+)	NCBI		UU_Cfam_GSD_1.0

HSD11B1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	133,231,451 - 133,278,396 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	133,231,451 - 133,278,396 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

HSD11B1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	25	19,720,096 - 19,772,806 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	25	19,719,848 - 19,750,200 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666055	20,319,360 - 20,369,697 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hsd11b1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624807	2,261,006 - 2,293,804 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624807	2,260,702 - 2,293,962 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005329463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040277528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040277529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010004404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000016544 ⟹ ENSSTOP00000014804

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936557	3,357,016 - 3,403,714 (-)	Ensembl

RefSeq Acc Id:

XM_005329463 ⟹ XP_005329520

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024409344	66,118,514 - 66,163,212 (-)	NCBI
SpeTri2.0	NW_004936557	3,358,809 - 3,403,461 (-)	NCBI

Sequence:

show sequence

ACTCCAGCCTCCCCCGTCCCTGATGTCACAATTCAGAGGCTGCTGCCTGCCTAGGACGTTGTAG
AAAGCTCTGTAGGTTCTCTCTGTGTGTCCTACAGGGCTCCCGGGGGCCAGGTCCTCATCTGATG
GCTTTTATGACAAAATATCTCCTCCCCATCCTGGTGGTCTCCTTGGCCTACTACTATTATTCTG
CAAATGAGGAATTCAGACCAGAGATGCTCCAAGGAAAGAAAGTGATTGTCACAGGAGCCAGCAA
AGGAATCGGAAGAGAAATGGCTTATCACCTGGCGAAGATGGGAGCCCATGTGGCGGTGACAGCG
AGGTCAGAAGAAGGTCTACAGAAGGTGGTGTCCCGCTGCCTAGAACTTGGAGCAGCCTCAGCAC
ACTACATTGCAGGAACCATGGAAAACCTGACCTTTGCAGAACAATTTGTTACCAAAGCAGGAGA
ACTCATGGGTGGACTAGACATGCTCATTCTCAACCACATCACCAACTCTCCTTTGGATTTTTTT
CATAATGATACCCATATTGTGCGTAAAACCATGGAGGTCAACTTCCTCAGTTATGTGGTCCTGA
GTGTGGCTGCCTTGCCCATGCTGAAGCAGAGCAATGGAAGCATTGTCGTCATCTCCTCATTGGC
TGGAAAAACAGCTCATCCTCTGATTGCTCCTTATTCTGCAAGCAAGTTTGCTCTGGATGGGTTC
TTCTCTTCCCTTAGGAAAGAATATTTAGTGACCAAGGTCAATGTGTCAATCACTCTGTGTATCC
TTGGCCTCATAAACACAGAAACAGCCATGCAGGCAACTTCTGGGGTATTCATTGCAGAAGCAGC
TCCAAAGGAGGACTGTGCCCTGGAGATCATCAAAGGGGCAGCTCTGCGGAAAGAGGAAGTATAC
TACGACAAATCAATCTGGACCTCTCTCCTGCTAGGAAACCCAGGGAGGAGGATCATGGAATTTC
TCGCATTAAGGAAATATAATTTTGACAAATTTATAAACAACTAGTAACTCCCTTAGGACTGGCC
ATGGTAAGGGATCTTGGGATGTTCTGTCCAGTATTTCTTCAAGCTCTATCCATGAACGTATCTT
CCCAGAGGGATAACTAGAGCACTTCCAGAGACATGCAAGTCACAGGGTACATCTTACAATTGAA
AGAAATTCCTCTAACATGTGCACAGTGGAAATTTAATTGTAATAAATGTCATGAACCACTCTTC
AGCCTACATTTGTGAAACTGTTAGTAACAATAGGTATAATTACAAGGTAGCTATATCCAATTTA
CCTCGTATATGTAATAATATTATGATGCTTAACACAATATTAATTATAATAAAGGTCACATAAA
CTTTATAAAATCAAAA

hide sequence

RefSeq Acc Id:

XM_040277528 ⟹ XP_040133462

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024409344	66,118,456 - 66,179,043 (-)	NCBI

RefSeq Acc Id:

XM_040277529 ⟹ XP_040133463

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024409344	66,118,514 - 66,179,009 (-)	NCBI

Protein Sequences


Protein RefSeqs	XP_005329520	(Get FASTA)	NCBI Sequence Viewer
	XP_040133462	(Get FASTA)	NCBI Sequence Viewer
	XP_040133463	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000014804.2
GenBank Protein	KAG3258181	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_005329520 ⟸ XM_005329463
- Peptide Label:	isoform X2
- UniProtKB:	I3MRR5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAFMTKYLLPILVVSLAYYYYSANEEFRPEMLQGKKVIVTGASKGIGREMAYHLAKMGAHVAVT ARSEEGLQKVVSRCLELGAASAHYIAGTMENLTFAEQFVTKAGELMGGLDMLILNHITNSPLDF FHNDTHIVRKTMEVNFLSYVVLSVAALPMLKQSNGSIVVISSLAGKTAHPLIAPYSASKFALDG FFSSLRKEYLVTKVNVSITLCILGLINTETAMQATSGVFIAEAAPKEDCALEIIKGAALRKEEV YYDKSIWTSLLLGNPGRRIMEFLALRKYNFDKFINN hide sequence

RefSeq Acc Id:	XP_040133462 ⟸ XM_040277528
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_040133463 ⟸ XM_040277529
- Peptide Label:	isoform X2
- UniProtKB:	I3MRR5 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSSTOP00000014804 ⟸ ENSSTOT00000016544

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000016541	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000016544.3	UniProtKB/TrEMBL
Gene3D-CATH	NAD(P)-binding Rossmann-like Domain	UniProtKB/TrEMBL
InterPro	NAD(P)-bd_dom_sf	UniProtKB/TrEMBL
	Sc_DH/Rdtase_CS	UniProtKB/TrEMBL
	SDR_fam	UniProtKB/TrEMBL
NCBI Gene	Hsd11b1	ENTREZGENE
PANTHER	CORTICOSTEROID 11-BETA-DEHYDROGENASE ISOZYME 1	UniProtKB/TrEMBL
	HYDROXYSTEROID (11-BETA) DEHYDROGENASE 1-LIKE B-RELATED	UniProtKB/TrEMBL
Pfam	adh_short	UniProtKB/TrEMBL
PRINTS	GDHRDH	UniProtKB/TrEMBL
PROSITE	ADH_SHORT	UniProtKB/TrEMBL
Superfamily-SCOP	SSF51735	UniProtKB/TrEMBL
UniProt	I3MRR5	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB