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HSD3B1 Gene

protein-coding GIFtS: 64
GCID: GC01P120049

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

(Previous symbols: HSDB3, HSD3B)

See 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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include 3-beta-hydroxy-delta5-steroid dehydrogenase activity and steroid delta-isomerase activity. An important paralog of this gene is SDR42E1.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000001.11 NC_018912.2 NT_032977.10

Regulatory elements:

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 Chromatin IP Primers for HSD3B1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

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:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

2 DME Specific Peptides for HSD3B1 (P14060)

VAGPNSYK

WSCLVTGAGGFLGQRI

See HSD3B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000853.1

ENSEMBL proteins:

ENSP00000435999 ENSP00000358421 ENSP00000432268 ENSP00000235547

Reactome Protein details: P14060

HSD3B1 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): Selected molecular function terms (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

Animal Models:

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3B1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

3BHS1_HUMAN, P14060: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane;

Single-pass membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
mitochondrion	5
cytoskeleton	2
cytosol	2
extracellular	2
nucleus	2
plasma membrane	2
lysosome	1
peroxisome	1

About this image

Gene Ontology (GO): 5 cellular component terms: 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 component of membrane	IEA	--
GO:0030868	smooth endoplasmic reticulum membrane	ISS	--

HSD3B1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for HSD3B1 About (see all 8)

See pathways by source

SuperPath

Contained pathways About

Metabolism

	Metabolism	0.38			Metabolism of lipids and lipoproteins	0.37
	Metabolic pathways	0.38

Steroid hormone biosynthesis

Steroid hormone biosynthesis

Glucocorticoid andamp; Mineralcorticoid Metabolism

0.00

Metabolism of steroid hormones and vitamin D

	Mineralocorticoid biosynthesis	0.00			Androgen biosynthesis	0.00
	Metabolism of steroid hormones and vitamin D			Glucocorticoid biosynthesis	0.00

superpathway of steroid hormone biosynthesis

	superpathway of steroid hormone biosynthesis			progesterone biosynthesis	0.00
	androgen biosynthesis	0.00

Prostate Cancer

Prostate Cancer

0.32

Steroid Biosynthesis

0.00

Pathways by source See SuperPaths
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for HSD3B1

Androstenedione and testosterone biosynthesis and metabolism p.1

Selected BioSystems Pathways for HSD3B1 (see all 7)

	Prostate Cancer
	superpathway of steroid hormone biosynthesis
	Corticotropin-releasing hormone
	Steroid Biosynthesis
	Glucocorticoid & Mineralcorticoid Metabolism

3 Reactome Pathways for HSD3B1

	Mineralocorticoid biosynthesis
	Glucocorticoid biosynthesis
	Androgen biosynthesis

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

    Custom Pathway & Disease-focused RT² Profiler PCR Arrays for HSD3B1
Interactions:

  GeneGlobe Interaction Network for HSD3B1

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

Selected Interacting proteins for HSD3B1 (ENSP00000358421⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 76)

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

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Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for HSD3B1 (3BHS1)

Selected 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)

HSD3B1 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

Selected AceView cDNA sequences (see all 483):

BQ026654 AV707979 CR609339 CR618495 BQ368179 CR617775 BX094604 AV710213

AL554645 AI032819 AI032852 M67466 CR592971 AL547931 AV710172 AL550307

CR617799 BM728470 AV710810 AV706317 BX417042 N77961 AV710654 AV710553

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HSD3B1 expression in normal human tissues (normalized intensities)
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
selected tissues (see all 7) fully expand


Trophoblast (Extraembryonic Tissues)
Mural Trophectoderm Cells Mural Trophectoderm

Gut Tube (Gastrointestinal Tract)
Foregut

Testis (Reproductive System)
Secondary Spermatocyte Seminiferous Tubules

NULL (Uncategorized)
Vascular endothelial growth factor-induced cells

Gonad
Secondary Spermatocyte Seminiferous Tubules

HSD3B1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

HSD3B1 Protein Expression

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
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3B1

(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 Selected species (see all 14) 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	Gallus gallus hydroxy-delta-5-steroid dehydrogenas...	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	hsd3b1⁶ hsd3b2⁶	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and... hydroxy-delta-5-steroid dehydrogenase, 3 beta- and...	46(a) 44(a)	many ↔ many many ↔ many	9(22227790-22233809) ENSDARG00000069926 20(1295835-1299484) ENSDARG00000019747
fruit fly (Drosophila melanogaster)	Insecta	CG7724⁶	--	26(a)	1 → many	3L(17048713-17051633)
worm (Caenorhabditis elegans)	Secernentea	C32D5.12⁶	Protein C32D5.12 (C32D5.12) mRNA, complete cds	17(a)	1 → many	II(6356416-6359005) WBGene00016319
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ERG26⁶	C-3 sterol dehydrogenase, catalyzes the second of ...	25(a)	1 → many	VII(495453-496502) YGL001C

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

SDR42E1² HSD3B2² 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing HSD3B1

DNA2.0 Custom Variant and Variant Library Synthesis for HSD3B1

(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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OMIM gene information: 109715 OMIM disorders: --

Selected diseases for HSD3B1 (see all 29):
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heel spur adrenal gland hyperfunction mycetoma conn's syndrome

sertoli-leydig cell tumor leydig cell tumor congenital adrenal hyperplasia patent ductus arteriosus

pseudohermaphroditism hyperandrogenism precocious puberty adrenocortical carcinoma

hypospadias cushing's syndrome polycystic ovary syndrome lung cancer susceptibility

prostate cancer essential hypertension choriocarcinoma cholera

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

HSD3B1 for disorders About GeneDecksing

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 10 sources (see all 114):
(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. (Mol. Endocrinol. 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. (J. Clin. Endocrinol. Metab. 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. (Cancer Res. 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. (J. Reprod. Fertil. 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. (Am. J. Hypertens. 2009)
Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. (PubMed id 19505920)^{1, 4, 9} Beuten J....Leach R.J. (amp 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. (amp 2007)
Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. (PubMed id 20634197)^{1, 4} Canzian F....Feigelson H.S. (Hum. Mol. Genet. 2010)
A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)^{1, 4} Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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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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