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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HSD3B1 Gene

protein-coding GIFtS: 64
GCID: GC01P120049

Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid...

(Previous symbols: HSDB3, HSD3B)

29 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1¹ ²		3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase²
HSD3B¹ ²		3BETAHSD²
HSDB3¹ ²		I²
Trophoblast Antigen FDO161G² ³		SDR11E1²
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type I² ³		Delta-5-3-Ketosteroid Isomerase²
3-Beta-HSD I² ³		Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta-And Steroid Delta-Isomerase 1²
HSDB3A² ³		Progesterone Reductase²
Member 1¹		Short Chain Dehydrogenase/Reductase Family 11E, Member 1²
Short Chain Dehydrogenase/Reductase Family 11E¹		Steroid Delta-Isomerase²
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 1²		3BH³
3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase²		EC 1.1.1⁸

External Ids:	HGNC: 5217¹	Entrez Gene: 3283²	Ensembl: ENSG00000203857⁷	OMIM: 109715⁵	UniProtKB: P14060³

Export aliases for HSD3B1 gene to outside databases

Previous GC identifers: GC01P120496 GC01P118887 GC01P119105 GC01P119304 GC01P119761 GC01P119852 GC01P117908

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HSD3B1 Gene:

HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) is a protein-coding gene. Diseases associated with HSD3B1 include heel spur, and adrenal gland hyperfunction, and among its related super-pathways are Glucocorticoid biosynthesis and Metabolic pathways. GO annotations related to this gene include steroid delta-isomerase activity and nucleotide binding. An important paralog of this gene is HSD3B2.

UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060

Function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy

steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the

biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone to

progesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone, DHEA to 4-androstenedione,

dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to androstenedione and

5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone

Gene Wiki entry for HSD3B1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.2 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HSD3B1 gene promoter:
RFX1 Sox5 Pbx1a RelA LCR-F1 YY1 PPAR-gamma1 COMP1 ZIC2/Zic2 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HSD3B1 promoter sequence

Search SABiosciences Chromatin IP Primers for HSD3B1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD3B1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.1 Ensembl cytogenetic band: 1p12 HGNC cytogenetic band: 1p12

HSD3B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD3B1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P120049: view genomic region (about GC identifiers)

Start:	120,049,821 bp from pter	End:	120,057,681 bp from pter
Size:	7,861 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060 (See protein sequence)

Recommended Name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

Size: 373 amino acids; 42252 Da

Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass

membrane protein

Sequence caution: Sequence=AAA36001.1; Type=Erroneous gene model prediction;

Secondary accessions: A8K691 Q14545 Q8IV65

Explore the universe of human proteins at neXtProt for HSD3B1: NX_P14060

Explore proteomics data for HSD3B1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P14060

2 DME Specific Peptides for HSD3B1 (P14060)

VAGPNSYK

WSCLVTGAGGFLGQRI

HSD3B1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_000853.1

ENSEMBL proteins:

ENSP00000435999 ENSP00000358421 ENSP00000432268 ENSP00000235547

Reactome Protein details: P14060
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Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005743	mitochondrial inner membrane	IDA	8274411
GO:0005758	mitochondrial intermembrane space	IDA	8274411
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016021	integral to membrane	IEA	--
GO:0030868	smooth endoplasmic reticulum membrane	ISS	--

HSD3B1 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

2 InterPro protein domains:

IPR002225 3Beta_OHSteriod_DH/Estase

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry P14060

ProtoNet protein and cluster: P14060

1 Blocks protein domain: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060

Similarity: Belongs to the 3-beta-HSD family

HSD3B1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: 3BHS1_HUMAN, P14060

Function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy

steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the

biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone to

progesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone, DHEA to 4-androstenedione,

dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to androstenedione and

5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone

Catalytic activity: A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH

Catalytic activity: A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid

Genatlas biochemistry entry for HSD3B1:

hydroxysteroid 3-beta,dehydrogenase/steroid delta 5-delta 4 isomerase,type I,NADH dependent,microsomal,expressed in

placenta and peripheral tissues

Enzyme Number (IUBMB): EC 1.1.1²

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	ISS	1944309
GO:0004769	steroid delta-isomerase activity	ISS	1944309
GO:0008831	dTDP-4-dehydrorhamnose reductase activity	--	--
GO:0016491	oxidoreductase activity	--	--

HSD3B1 for ontologies About GeneDecksing

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3B1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for HSD3B1 About (see all 8)

See pathways by source

SuperPath

Contained pathways About

Mineralocorticoid biosynthesis

Mineralocorticoid biosynthesis	0.71	mineralocorticoid biosynthesis	0.60
Glucocorticoid biosynthesis	0.71	glucocorticoid biosynthesis	0.50
Glucocorticoid & Mineralcorticoid Metabolism	0.67

Metabolism

	Metabolism	0.40			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.40

Androgen biosynthesis

androgen biosynthesis

0.62

Androgen biosynthesis

0.62

Estrone metabolism

Androstenedione and testosterone biosynthesis and metabolism p.1

0.57

Steroid Biosynthesis

0.32

Metabolism of steroid hormones and vitamin D

Metabolism of steroid hormones and vitamin D

1.00

Steroid hormones

1.00

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for HSD3B1

Androstenedione and testosterone biosynthesis and metabolism p.1

1 GeneGo (Thomson Reuters) Pathway for HSD3B1

Androstenedione and testosterone biosynthesis and metabolism p.1

5/6 BioSystems Pathways for HSD3B1 (see all 6)

	glucocorticoid biosynthesis
	mineralocorticoid biosynthesis
	Prostate Cancer
	Steroid Biosynthesis
	Glucocorticoid & Mineralcorticoid Metabolism

5/7 Reactome Pathways for HSD3B1 (see all 7)

	Glucocorticoid biosynthesis
	Metabolism of steroid hormones and vitamin D
	Mineralocorticoid biosynthesis
	Metabolism
	Steroid hormones

3 Kegg Pathways (Kegg details for HSD3B1):

	Steroid hormone biosynthesis
	Metabolic pathways
	Ovarian steroidogenesis

UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060

Pathway: Lipid metabolism; steroid biosynthesis

HSD3B1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HSD3B1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/52 Interacting proteins for HSD3B1 (ENSP00000358421⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AKR1D1	ENSP00000242375⁴	STRING: ENSP00000242375
CYP11A1	ENSP00000268053⁴	STRING: ENSP00000268053
CYP11B1	ENSP00000292427⁴	STRING: ENSP00000292427
CYP17A1	ENSP00000358903⁴	STRING: ENSP00000358903
CYP19A1	ENSP00000260433⁴	STRING: ENSP00000260433

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006694	steroid biosynthetic process	ISS	1944309
GO:0006702	androgen biosynthetic process	TAS	1944309
GO:0006703	estrogen biosynthetic process	TAS	1944309
GO:0006704	glucocorticoid biosynthetic process	TAS	--
GO:0006705	mineralocorticoid biosynthetic process	TAS	--

HSD3B1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HSD3B1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for HSD3B1 (3BHS1)

10/23 HMDB Compounds for HSD3B1 (see all 23) About this table

Compound	Synonyms	CAS #	PubMed Ids
11b,17a,21-Trihydroxypreg-nenolone	11beta,17alpha,21-Trihydroxypregnenolone (see all 2)	--	--
16a-Hydroxyandrost-4-ene-3,17-dione	4-Androsten-16alpha-ol-3,17-dione (see all 2)	63-02-5	--
16a-Hydroxydehydroisoandrosterone	16-Hydroxydehydroandrosterone (see all 10)	1232-73-1	--
17-Hydroxyprogesterone	17-OHP (see all 15)	68-96-2	--
17a,21-Dihydroxypreg-nenolone	17alpha,21-Dihydroxypregnenolone (see all 2)	1167-48-2	--
17a-Hydroxypregnenolone	17-Hydroxy-D5-pregnenolone (see all 9)	387-79-1	--
21-Hydroxypregnenolone	(3b)-3,21-dihydroxy-Pregn-5-en-20-one (see all 9)	1164-98-3	--
Androst-5-ene-3b,17b-diol	3beta,17beta-Dihydroxy-5-androstene (see all 13)	521-17-5	--
Androstenedione	(4)-Androsten-3,17-dione (see all 14)	63-05-8	--
Campest-4-en-3-one	(24R)-ergost-4-en-3-one	--	--

3 DrugBank Compounds for HSD3B1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Trilostane	--	13647-35-3	target	inhibitor	18991633 1944305 7996177 8809191 2268554 7989460 6362415
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 2362440 3476810 17016423 2961942
4-Androstenedione	--	63-05-8	target	positive allosteric modulator	2945972

6 Novoseek inferred chemical compound relationships for HSD3B1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3beta-hydroxysteroid	91.1	10	17689071 (1), 19501915 (1), 9685215 (1), 14764797 (1) (see all 9)
steroid	61.7	3	17689071 (2), 19505920 (1)
progesterone	38.2	2	19197249 (1), 15131259 (1)
testosterone	35.8	2	15666815 (1), 17507624 (1)
cholesterol	15.7	4	19197249 (1), 19491374 (1), 14672738 (1), 16253961 (1)
estrogen	3.71	1	17507624 (1)

Search CenterWatch for drugs/clinical trials and news about HSD3B1 / 3BHS1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HSD3B1 gene:

NM_000862.2

Unigene Cluster for HSD3B1:

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

Hs.364941 [show with all ESTs]

Unigene Representative Sequence: CD014103

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000531340 ENST00000369413 ENST00000492140 ENST00000487520 ENST00000528909

ENST00000235547(uc001ehv.1)

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Additional mRNA sequence:

AK291556.1 BC031999.1 M27137.1 M35493.1 S45679.1 X53321.1 X55997.1

21 DOTS entries:

DT.100817897 DT.455031 DT.100817894 DT.100817910 DT.100817911 DT.100837575 DT.92462463 DT.104113

DT.100765968 DT.100817900 DT.121332825 DT.121332949 DT.100669753 DT.100768746 DT.100808929 DT.95320241

DT.99998554 DT.117306 DT.91861847 DT.95320255 DT.95320272

24/483 AceView cDNA sequences (see all 483):

BX402476 BG985392 BX458889 CR617417 CR611960 BX094604 BX425838 CR590386

AV704418 AV708775 M67466 CR623220 AV710213 CR618495 AL550307 CR601599

CR593000 CR609339 AL540716 AV705363 AL548079 AV710380 AV705124 AV710172

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HSD3B1 expression in normal human tissues (normalized intensities) HSD3B1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGGTTTGCTG

About this image

HSD3B1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/14 selected tissues (see all 14) fully expand


Heart (Cardiovascular System) fully expand to see all 3 entries
heart/ventricle

Lower Urinary Tract (Urinary System) fully expand to see all 2 entries
visceral organ

Limb (Muscoskeletal System) fully expand to see all 2 entries
limb/hindlimb

Reproductive System (Reproductive System)
vulva

Neural Tube (Nervous System)
Telencephalon

See HSD3B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HSD3B1

SOURCE GeneReport for Unigene cluster: Hs.364941

UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060

Tissue specificity: Placenta and skin. Predominantly expressed in mammary gland tissue

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD3B1 gene from 6/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hsd3b6⁵ Hsd3b2¹	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and more^{1, 5}	77.3(n)¹ 71.05(a)¹		3 (42.88 cM)⁵ 15493¹ NM_153193.3¹ NP_694873.2¹ 98805504⁵
chicken (Gallus gallus)	Aves	HSD3B2⁶	3 beta-hydroxysteroid dehydrogenase 1	50(a)	1 → many	1(77954029-77969647)
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	49(a)	1 → many	GL343218.1(413351-419268)
zebrafish (Danio rerio)	Actinopterygii	si:rp71-68n21.10⁶ hsd3b1⁶	si:rp71-68n21.10 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and...	45(a) 44(a)	many ↔ many many ↔ many	9(22227790-22233809) 20(1295835-1299484)
fruit fly (Drosophila melanogaster)	Insecta	CG7724⁶	--	25(a)	1 → many	3L(17048713-17051633)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ERG26⁶	C-3 sterol dehydrogenase, catalyzes the second of ...	24(a)	1 → many	VII(495453-496502)

ENSEMBL Gene Tree for HSD3B1 (if available)
TreeFam Gene Tree for HSD3B1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for HSD3B1 gene

HSD3B2² SDR42E1² SDR42E2² HSD3B7² NSDHL²

3 SIMAP similar genes for HSD3B1 using alignment to 3 protein entries: 3BHS1_HUMAN (see all proteins):

HSD3B2 3-HSD 1 HSD3B7

HSD3B1 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for HSD3B1
PGOHUM00000244871 PGOHUM00000244872 PGOHUM00000244873 PGOHUM00000244874

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77336936^1,2	C,F	--	120047960(+)	`AACAAA/GTCTCA`	1	--	us2k¹		1		NA	120
rs112184541^1,2	C,F	--	120048017(+)	`CAGTAG/ATATTT`	1	--	us2k¹		2		WA	120
rs72999116^1,2	C,F	--	120048076(+)	`AAAACA/CAGCAA`	1	--	us2k¹		2		WA	120
rs183275477^1,2	C	--	120048125(+)	`CAAGAC/TAAAAC`	1	--	us2k¹		0	--	--	--	--
rs79893086^1,2	C,F	--	120048138(+)	`TAAATA/GTTATT`	1	--	us2k¹		1		WA	118
rs76332877^1,2	C,F	--	120048144(+)	`TTATTA/CACTGA`	1	--	us2k¹		1		WA	118
rs61808480^1,2	F	--	120048422(+)	`GAAAAA/TACAAA`	1	--	us2k¹		1		NA	2
rs144637115^1,2		--	120048437(+)	`AGCCCA/GGTGCA`	1	--	us2k¹		0	--	--	--	--
rs138529407^1,2		--	120048471(+)	`CTACTC/TCGGAG`	1	--	us2k¹		0	--	--	--	--
rs7542827^1,2	C,A,H	--	120048472(+)	`tacttT/Cggagg`	1	--	us2k¹		2		WA CSA	4

HapMap Linkage Disequilibrium report for HSD3B1 (120049821 - 120057681 bp)

Structural Variations
Database of Genomic Variants (DGV) 6 variations for HSD3B1: About this table

Variant ID	Type	Subtype	PubMed ID
esv2716784	CNV	Deletion	23290073
esv2716762	CNV	Deletion	23290073
nsv524727	CNV	Loss	19592680
esv34089	CNV	Loss	18971310
nsv524681	CNV	Gain	19592680
dgv90e1	CNV	Complex	17122850

Human Gene Mutation Database (HGMD): HSD3B1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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HSD3B1 for disorders           About GeneDecksing

OMIM gene information: 109715    OMIM disorders: --

20/29 diseases for HSD3B1 (see all 29):    About MalaCards

heel spur adrenal gland hyperfunction mycetoma conn's syndrome

familial prostate cancer patent ductus arteriosus sertoli-leydig cell tumor leydig cell tumor

pseudohermaphroditism precocious puberty adrenocortical carcinoma hyperandrogenism

hypospadias esophageal adenocarcinoma cushing's syndrome polycystic ovary syndrome

essential hypertension prostate cancer cholera choriocarcinoma

8 diseases from the University of Copenhagen DISEASES database for HSD3B1:

Pseudohermaphroditism Polycystic ovary syndrome Cushing's syndrome Adrenocortical carcinoma

Hyperandrogenism Hypospadias Conn's syndrome Leydig cell tumor

2 Novoseek inferred disease relationships for HSD3B1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adrenal hyperplasia congenital	62.3	1	12428206 (1)
prostate cancer	26.7	10	11912155 (3), 19505920 (1)

Genetic Association Database (GAD): HSD3B1
Human Genome Epidemiology (HuGE) Navigator: HSD3B1 (35 documents)

Export disorders for HSD3B1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HSD3B1 gene, integrated from 9 sources (see all 112):
(articles sorted by number of sources associating them with HSD3B1)

Utopia: connect your pdf to the dynamic
world of online information

Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase. (PubMed id 2779585)^{1, 2, 3} Luu-The V.... Labrie C. (1989)
The hormonal phenotype of nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency. (PubMed id 14764797)^{1, 4, 9} Carbunaru G.... Pang S. (2004)
Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. (PubMed id 11912155)^{1, 4, 9} Chang B.L....Xu J. (2002)
Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase. (PubMed id 1920284)^{1, 2, 9} Nickson D.A.... Sutcliffe R.G. (1991)
Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain. (PubMed id 19197249)^{1, 4, 9} Tripodi G....Manunta P. (2009)
Single and multigenic analysis of the association bet ween variants in 12 steroid hormone metabolism genes and risk of prostate cance r. (PubMed id 19505920)^{1, 4, 9} Beuten J....Leach R.J. (2009)
Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. (PubMed id 17507624)^{1, 4, 9} Cunningham J.M....Thibodeau S.N. (2007)
Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolis m and breast cancer risk in the NCI breast and prostate cancer cohort consortiu m. (PubMed id 20634197)^{1, 4} Canzian F....Feigelson H.S. (2010)
A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)^{1, 4} Liu C.Y....Christiani D.C. (2010)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3283	HGNC: 5217	AceView: HSD3B2andHSD3B1andLOC440606	Ensembl:ENSG00000203857	euGenes: HUgn3283
ECgene: HSD3B1	Kegg: 3283	H-InvDB: HSD3B1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HSD3B1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HSD3B1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HSD3B1 gene:
Search GeneIP for patents involving HSD3B1

GeneCards and IP:
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HSD3B1 Gene

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HSD3B1 (Gene Symbol)
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1
HSD3B
HSDB3
Trophoblast Antigen FDO161G
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type I
3-Beta-HSD I
HSDB3A
Member 1
Short Chain Dehydrogenase/Reductase Family 11E
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 1
3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase
3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase
3BETAHSD
I
SDR11E1
Delta-5-3-Ketosteroid Isomerase
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta-And Steroid Delta-Isomerase 1
Progesterone Reductase
Short Chain Dehydrogenase/Reductase Family 11E, Member 1
Steroid Delta-Isomerase
3BH
EC 1.1.1

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HSD3B1 Gene

Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid...

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