HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) - Rat Genome Database

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Gene: HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) Homo sapiens
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Symbol: HSD3B1
Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
RGD ID: 1347893
HGNC Page HGNC
Description: Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase activity and steroid delta-isomerase activity. Predicted to be involved in several processes, including C21-steroid hormone metabolic process; hippocampus development; and response to corticosterone. Located in several cellular components, including intercellular bridge; mitochondrial envelope; and nucleolus. Implicated in hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I; 3-beta-HSD I; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; 3-beta-hydroxysteroid 3-dehydrogenase; 3BETAHSD; delta-5-3-ketosteroid isomerase; dihydrotestosterone oxidoreductase; HSD3B; HSDB3; HSDB3A; hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 1; I; progesterone reductase; SDR11E1; short chain dehydrogenase/reductase family 11E, member 1; steroid Delta-isomerase; trophoblast antigen FDO161G
RGD Orthologs
Mouse
Rat
Pig
Alliance Genes
More Info more info ...
Related Pseudogenes: HSD3BP1   HSD3BP3   HSD3BP4   HSD3BP5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1119,507,198 - 119,515,054 (+)EnsemblGRCh38hg38GRCh38
GRCh381119,507,203 - 119,515,058 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371120,049,826 - 120,057,681 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361119,851,349 - 119,859,204 (+)NCBINCBI36hg18NCBI36
Build 341119,761,892 - 119,769,716NCBI
Celera1118,280,577 - 118,288,432 (+)NCBI
Cytogenetic Map1p12NCBI
HuRef1117,908,314 - 117,916,173 (+)NCBIHuRef
CHM1_11120,165,347 - 120,173,201 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-citrinin  (ISO)
(S)-nicotine  (EXP,ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trichlorophenol  (EXP)
2-methoxyethanol  (ISO)
2-tert-butylhydroquinone  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-nonylphenol  (ISO)
4-tert-Octylphenol  (ISO)
5-azacytidine  (ISO)
8-Br-cAMP  (EXP,ISO)
acetaldehyde  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (ISO)
allethrin  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
androst-4-ene-3,17-dione  (EXP)
androst-5-ene-3beta,17beta-diol  (EXP)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bosentan  (EXP)
bucladesine  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcitriol  (EXP)
CARBENOXOLONE  (EXP)
cefaloridine  (ISO)
chlormequat chloride  (ISO)
chlorothalonil  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
Chorionic gonadotropin  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
colforsin daropate hydrochloride  (EXP)
cortisol  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (ISO)
daidzein  (ISO)
daidzein 7-O-beta-D-glucoside  (ISO)
DDT  (EXP)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (EXP,ISO)
delta-hexachlorocyclohexane  (ISO)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
Dicyclohexyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (EXP,ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
endosulfan  (EXP,ISO)
enilconazole  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fenarimol  (ISO)
fenvalerate  (ISO)
fipronil  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gamma-hexachlorocyclohexane  (ISO)
genistein  (ISO)
genistein 7-O-beta-D-glucoside  (ISO)
glucose  (ISO)
glutathione  (ISO)
glycitein  (ISO)
glycitin  (ISO)
glycyrrhetinate  (EXP)
glycyrrhetinic acid  (EXP)
glyphosate  (ISO)
Goe 6976  (EXP)
hesperidin  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
icariin  (ISO)
iodoacetic acid  (ISO)
isoflavones  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lycopene  (ISO)
menadione  (EXP)
methotrexate  (ISO)
methoxychlor  (EXP,ISO)
Mitotane  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
monoethyl phthalate  (ISO)
N,N-diethyl-m-toluamide  (EXP)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
nicotine  (EXP,ISO)
Nonylphenol  (ISO)
ochratoxin A  (EXP)
ozone  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
pentachlorophenol  (EXP)
perfluorododecanoic acid  (ISO)
perfluoroheptanoic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone  (EXP)
progesterone  (EXP,ISO)
quercetin  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
sertraline  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sulfasalazine  (ISO)
sulindac sulfide  (EXP)
terbutylazine  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP,ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
triphenyl phosphate  (EXP,ISO)
triphenylstannane  (ISO)
tris(2-chloroethyl) phosphate  (EXP,ISO)
troglitazone  (ISO)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (ISO)
zearalenone  (ISO)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (ISO)
androgen biosynthetic process  (TAS)
biphenyl metabolic process  (ISO)
C21-steroid hormone metabolic process  (IBA,ISO)
cellular response to antibiotic  (ISO)
cellular response to cAMP  (ISO)
cellular response to dexamethasone stimulus  (ISO)
cellular response to fibroblast growth factor stimulus  (ISO)
cellular response to follicle-stimulating hormone stimulus  (ISO)
cellular response to glucose stimulus  (ISO)
cellular response to gonadotropin stimulus  (ISO)
cellular response to hydrogen peroxide  (ISO)
cellular response to insulin stimulus  (ISO)
cellular response to luteinizing hormone stimulus  (ISO)
cellular response to mercury ion  (ISO)
cellular response to methylmercury  (ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
dibenzo-p-dioxin metabolic process  (ISO)
diterpenoid metabolic process  (ISO)
estrogen biosynthetic process  (TAS)
female gonad development  (ISO)
granulocyte differentiation  (ISO)
hippocampus development  (IBA,ISO)
insecticide metabolic process  (ISO)
Leydig cell differentiation  (ISO)
male gonad development  (ISO)
maternal process involved in female pregnancy  (ISO)
organic acid metabolic process  (ISO)
ovulation  (ISO)
phenol-containing compound metabolic process  (ISO)
phosphatidylcholine metabolic process  (ISO)
progesterone biosynthetic process  (ISO)
response to activity  (ISO)
response to alkaloid  (ISO)
response to arsenic-containing substance  (ISO)
response to cadmium ion  (ISO)
response to calcium ion  (ISO)
response to corticosterone  (IBA,ISO)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to fatty acid  (ISO)
response to fungicide  (ISO)
response to herbicide  (ISO)
response to L-ascorbic acid  (ISO)
response to lead ion  (ISO)
response to lithium ion  (ISO)
response to metal ion  (ISO)
response to nutrient levels  (ISO)
response to organic cyclic compound  (ISO)
response to organic substance  (ISO)
response to vitamin E  (ISO)
response to xenobiotic stimulus  (ISO)
steroid biosynthetic process  (IBA,IEA,ISS)
steroid metabolic process  (ISO)
testosterone biosynthetic process  (ISO)
toluene metabolic process  (ISO)

References

Additional References at PubMed
PMID:1401999   PMID:1673569   PMID:1737804   PMID:1920284   PMID:1944309   PMID:2066113   PMID:2082186   PMID:2139411   PMID:2243100   PMID:2770297   PMID:2779585   PMID:7673125  
PMID:8043598   PMID:8274411   PMID:8908375   PMID:10067877   PMID:10391209   PMID:10810285   PMID:11174850   PMID:11912155   PMID:12050213   PMID:12205101   PMID:12438565   PMID:12477932  
PMID:12530651   PMID:12530676   PMID:12832414   PMID:14764797   PMID:15097232   PMID:15291746   PMID:15291757   PMID:15489334   PMID:15797861   PMID:16302261   PMID:17507624   PMID:17589376  
PMID:17624763   PMID:17627014   PMID:17689071   PMID:17826523   PMID:18223326   PMID:18281655   PMID:18524572   PMID:18636124   PMID:18676680   PMID:18723074   PMID:18778748   PMID:18955108  
PMID:19027726   PMID:19148546   PMID:19170196   PMID:19197249   PMID:19336370   PMID:19414525   PMID:19429456   PMID:19453261   PMID:19505920   PMID:19574343   PMID:19625176   PMID:19692168  
PMID:19913121   PMID:20056642   PMID:20086173   PMID:20184498   PMID:20214802   PMID:20420909   PMID:20453000   PMID:20628086   PMID:20634197   PMID:20660004   PMID:20729390   PMID:20734064  
PMID:20877624   PMID:21631238   PMID:21873635   PMID:21932034   PMID:22638611   PMID:22673022   PMID:23122578   PMID:23318910   PMID:23859711   PMID:23993097   PMID:24006038   PMID:24157973  
PMID:24810473   PMID:24951726   PMID:25092869   PMID:25172194   PMID:25319929   PMID:25458695   PMID:25731771   PMID:27139182   PMID:28514442   PMID:28655875   PMID:28744792   PMID:28951168  
PMID:29049452   PMID:29049492   PMID:29939161   PMID:30021884   PMID:30794306   PMID:31004874   PMID:31056381   PMID:31187330   PMID:31271415   PMID:31331867   PMID:31351905   PMID:31849283  
PMID:31932420   PMID:32053149   PMID:32296183   PMID:32814053   PMID:33141329  


Genomics

Candidate Gene Status
HSD3B1 is a candidate Gene for QTL BW98_H
Comparative Map Data
HSD3B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1119,507,198 - 119,515,054 (+)EnsemblGRCh38hg38GRCh38
GRCh381119,507,203 - 119,515,058 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371120,049,826 - 120,057,681 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361119,851,349 - 119,859,204 (+)NCBINCBI36hg18NCBI36
Build 341119,761,892 - 119,769,716NCBI
Celera1118,280,577 - 118,288,432 (+)NCBI
Cytogenetic Map1p12NCBI
HuRef1117,908,314 - 117,916,173 (+)NCBIHuRef
CHM1_11120,165,347 - 120,173,201 (+)NCBICHM1_1
Hsd3b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39398,749,672 - 98,767,110 (-)NCBIGRCm39mm39
GRCm39 Ensembl398,759,510 - 98,767,110 (-)Ensembl
GRCm38398,842,356 - 98,859,794 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl398,852,194 - 98,859,794 (-)EnsemblGRCm38mm10GRCm38
MGSCv37398,656,120 - 98,663,717 (-)NCBIGRCm37mm9NCBIm37
MGSCv36398,981,255 - 98,987,280 (-)NCBImm8
Celera3100,188,018 - 100,195,618 (-)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map342.89NCBI
Hsd3b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22186,169,864 - 186,175,984 (-)NCBImRatBN7.2
RGSC_v3.42193,500,916 - 193,507,633 (-)NCBIRGSC3.4rn4RGSC3.4
Celera2178,651,833 - 178,657,861 (-)NCBICelera
Cytogenetic Map2q34NCBI
HSD3B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14101,565,229 - 101,574,110 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24111,555,576 - 111,564,185 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap4q16-q21NCBI

Position Markers
SHGC-75403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371120,054,975 - 120,055,118UniSTSGRCh37
Build 361119,856,498 - 119,856,641RGDNCBI36
Celera1118,285,727 - 118,285,870RGD
Cytogenetic Map1p13.1UniSTS
HuRef1117,913,468 - 117,913,611UniSTS
TNG Radiation Hybrid Map166654.0UniSTS
GeneMap99-GB4 RH Map1401.92UniSTS
NCBI RH Map1873.0UniSTS
RH28  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371120,057,487 - 120,057,646UniSTSGRCh37
Build 361119,859,010 - 119,859,169RGDNCBI36
Celera1118,288,238 - 118,288,397RGD
Cytogenetic Map1p13.1UniSTS
HuRef1117,915,979 - 117,916,138UniSTS
GDB:178350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371120,056,398 - 120,057,324UniSTSGRCh37
Build 361119,857,921 - 119,858,847RGDNCBI36
Celera1118,287,149 - 118,288,075RGD
Cytogenetic Map1p13.1UniSTS
HuRef1117,914,890 - 117,915,816UniSTS
GDB:182602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371120,056,785 - 120,057,360UniSTSGRCh37
Build 361119,858,308 - 119,858,883RGDNCBI36
Celera1118,287,536 - 118,288,111RGD
Cytogenetic Map1p13.1UniSTS
HuRef1117,915,277 - 117,915,852UniSTS
HSD3B1__1178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371120,056,943 - 120,057,725UniSTSGRCh37
GRCh371119,988,387 - 119,989,170UniSTSGRCh37
Build 361119,789,910 - 119,790,693RGDNCBI36
Celera1118,287,694 - 118,288,476RGD
HuRef1117,915,435 - 117,916,217UniSTS
D1S3292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371120,057,335 - 120,057,516UniSTSGRCh37
Build 361119,858,858 - 119,859,039RGDNCBI36
Celera1118,288,086 - 118,288,267RGD
Cytogenetic Map1p13.1UniSTS
HuRef1117,915,827 - 117,916,008UniSTS
Stanford-G3 RH Map15617.0UniSTS
NCBI RH Map1873.0UniSTS
GeneMap99-G3 RH Map15573.0UniSTS
D1S2396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371120,057,304 - 120,057,633UniSTSGRCh37
Build 361119,858,827 - 119,859,156RGDNCBI36
Celera1118,288,055 - 118,288,384RGD
Cytogenetic Map1p13.1UniSTS
HuRef1117,915,796 - 117,916,125UniSTS
GeneMap99-GB4 RH Map1417.67UniSTS
Whitehead-RH Map1465.9UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1873.0UniSTS
SHGC-75404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371120,057,329 - 120,057,574UniSTSGRCh37
Build 361119,858,852 - 119,859,097RGDNCBI36
Celera1118,288,080 - 118,288,325RGD
Cytogenetic Map1p13.1UniSTS
HuRef1117,915,821 - 117,916,066UniSTS
TNG Radiation Hybrid Map166654.0UniSTS
GeneMap99-GB4 RH Map1401.92UniSTS
HSD3B  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1047
Count of miRNA genes:587
Interacting mature miRNAs:644
Transcripts:ENST00000235547, ENST00000369413, ENST00000487520, ENST00000492140, ENST00000528909, ENST00000531340
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 85 5 5 69 5 95 1 7 11 17 4
Low 162 3 185 55 62 56 400 3 4 16 38 19 46 161 1
Below cutoff 523 368 556 272 182 259 1145 233 1186 124 510 334 15 492 615

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001328615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH001481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL544564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL550307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC007030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M35493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M38180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S45679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369413   ⟹   ENSP00000358421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1119,507,210 - 119,515,054 (+)Ensembl
RefSeq Acc Id: ENST00000487520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1119,507,240 - 119,508,024 (+)Ensembl
RefSeq Acc Id: ENST00000492140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1119,507,213 - 119,511,952 (+)Ensembl
RefSeq Acc Id: ENST00000528909   ⟹   ENSP00000432268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1119,507,318 - 119,514,800 (+)Ensembl
RefSeq Acc Id: ENST00000531340   ⟹   ENSP00000435999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1119,507,198 - 119,511,602 (+)Ensembl
RefSeq Acc Id: NM_000862   ⟹   NP_000853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381119,507,210 - 119,515,054 (+)NCBI
GRCh371120,049,826 - 120,057,681 (+)ENTREZGENE
Build 361119,851,349 - 119,859,204 (+)NCBI Archive
HuRef1117,908,314 - 117,916,173 (+)ENTREZGENE
CHM1_11120,165,347 - 120,173,201 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001328615   ⟹   NP_001315544
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381119,507,203 - 119,515,058 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000853   ⟸   NM_000862
- UniProtKB: P14060 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001315544   ⟸   NM_001328615
- UniProtKB: P14060 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000435999   ⟸   ENST00000531340
RefSeq Acc Id: ENSP00000358421   ⟸   ENST00000369413
RefSeq Acc Id: ENSP00000432268   ⟸   ENST00000528909
Protein Domains
3Beta_HSD

Promoters
RGD ID:6856788
Promoter ID:EPDNEW_H1559
Type:multiple initiation site
Name:HSD3B1_1
Description:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381119,507,211 - 119,507,271EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 copy number gain See cases [RCV000051831] Chr1:116059621..120130051 [GRCh38]
Chr1:116602242..120672637 [GRCh37]
Chr1:116403765..120474160 [NCBI36]
Chr1:1p13.1-12
pathogenic
NM_000862.3(HSD3B1):c.712A>T (p.Arg238Trp) single nucleotide variant not provided [RCV000144493] Chr1:119514235 [GRCh38]
Chr1:120056858 [GRCh37]
Chr1:1p12
not provided
GRCh38/hg38 1p12(chr1:118752239-119977596)x3 copy number gain See cases [RCV000140044] Chr1:118752239..119977596 [GRCh38]
Chr1:119294862..120520219 [GRCh37]
Chr1:119096385..120321742 [NCBI36]
Chr1:1p12
likely benign
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
GRCh38/hg38 1p12(chr1:118933857-119977655)x1 copy number loss See cases [RCV000143206] Chr1:118933857..119977655 [GRCh38]
Chr1:119476480..120471049 [GRCh37]
Chr1:119278003..120321801 [NCBI36]
Chr1:1p12
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12
pathogenic
GRCh37/hg19 1p12(chr1:119806427-120438201)x3 copy number gain See cases [RCV000448151] Chr1:119806427..120438201 [GRCh37]
Chr1:1p12
uncertain significance
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 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
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
NM_000862.3(HSD3B1):c.1100= (p.Thr367=) single nucleotide variant Androgen deprivation therapy response [RCV000760965] Chr1:119514623 [GRCh38]
Chr1:120057246 [GRCh37]
Chr1:1p12
drug response
GRCh37/hg19 1p12(chr1:119425395-120527495)x3 copy number gain not provided [RCV000847309] Chr1:119425395..120527495 [GRCh37]
Chr1:1p12
uncertain significance
GRCh37/hg19 1p12(chr1:119836834-120289623)x3 copy number gain not provided [RCV001005131] Chr1:119836834..120289623 [GRCh37]
Chr1:1p12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5217 AgrOrtholog
COSMIC HSD3B1 COSMIC
Ensembl Genes ENSG00000203857 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358421 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432268 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435999 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369413 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528909 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000531340 UniProtKB/TrEMBL
GTEx ENSG00000203857 GTEx
HGNC ID HGNC:5217 ENTREZGENE
Human Proteome Map HSD3B1 Human Proteome Map
InterPro 3Beta_OHSteriod_DH/Estase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3283 UniProtKB/Swiss-Prot
NCBI Gene 3283 ENTREZGENE
OMIM 109715 OMIM
Pfam 3Beta_HSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29486 PharmGKB
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 3BHS1_HUMAN UniProtKB/Swiss-Prot
  E9PRN7_HUMAN UniProtKB/TrEMBL
  P14060 ENTREZGENE
UniProt Secondary A8K691 UniProtKB/Swiss-Prot
  Q14545 UniProtKB/Swiss-Prot
  Q8IV65 UniProtKB/Swiss-Prot