HSD3B1 Gene

Aliases
for HSD3B1 gene

(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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Previous GC identifers: GC01P120496 GC01P118887 GC01P119105 GC01P119304 GC01P119761 GC01P119852 GC01P117908

Summaries
for HSD3B1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
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 at NCBI GenBank:

NC_000001.10  NC_018912.2  NT_032977.10  

SwitchGear Promoter luciferase reporter plasmid: HSD3B1 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSD3B1

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


GeneLoc information about chromosome 1         GeneLoc Exon Structure

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

Proteins
for HSD3B1 gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for HSD3B1: NX_P14060

Explore proteomics data for HSD3B1 at MOPED

Post-translational modifications: 

HSD3B1 Human Recombinant Protein Products:

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	antibodies-online kits for HSD3B1 (7 products)

Domains /
Families
for HSD3B1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P14060

Find genes that share domains with HSD3B1           About GenesLikeMe

Function
for HSD3B1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

genOway: Develop your customized and physiologically relevant rodent model for HSD3B1

miRNA Products:		miRTarBase miRNAs that target HSD3B1: hsa-mir-26b-5p (MIRT029754)
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Gene Editing Products:

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3B1

Localization
for HSD3B1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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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

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Gene Ontology (GO): 5 cellular component terms:    About this table

Pathways & Interactions
for HSD3B1 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for HSD3B1 About   (see all 8)   See pathways by source

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	SuperPath	Contained pathways About
1	Metabolism	Metabolism 0.38 Metabolism of lipids and lipoproteins 0.37 Metabolic pathways 0.38
2	Steroid hormone biosynthesis	Steroid hormone biosynthesis Glucocorticoid andamp; Mineralcorticoid Metabolism 0.00
3	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
4	superpathway of steroid hormone biosynthesis	superpathway of steroid hormone biosynthesis progesterone biosynthesis 0.00 androgen biosynthesis 0.00
5	Prostate Cancer	Prostate Cancer 0.32 Steroid Biosynthesis 0.00

1 GeneGo (Thomson Reuters) Pathway for HSD3B1

Androstenedione and testosterone biosynthesis and metabolism p.1

Selected BioSystems Pathways for HSD3B1

	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

    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)

Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

Drugs & Compounds
for HSD3B1 gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for HSD3B1 gene

(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for HSD3B1 gene

(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 GenesLikeMe, 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

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

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3B1

Orthologs
for HSD3B1 gene

(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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Paralogs
for HSD3B1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Find genes that share paralogs with HSD3B1           About GenesLikeMe


4 Pseudogenes.org Pseudogenes for HSD3B1
PGOHUM00000244871 PGOHUM00000244872 PGOHUM00000244873 PGOHUM00000244874

Genomic Variants
for HSD3B1 gene

(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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Selected SNPs for HSD3B1 (see all 308)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs773369361,2	C,F	--	120047960(+)	AACAAA/GTCTCA	1	--	us2k1		1		NA	120
rs1121845411,2	C,F	--	120048017(+)	CAGTAG/ATATTT	1	--	us2k1		2		WA	120
rs729991161,2	C,F	--	120048076(+)	AAAACA/CAGCAA	1	--	us2k1		2		WA	120
rs1832754771,2	C	--	120048125(+)	CAAGAC/TAAAAC	1	--	us2k1		0	--	--	--	--
rs798930861,2	C,F	--	120048138(+)	TAAATA/GTTATT	1	--	us2k1		1		WA	118
rs763328771,2	C,F	--	120048144(+)	TTATTA/CACTGA	1	--	us2k1		1		WA	118
rs618084801,2	F	--	120048422(+)	GAAAAA/TACAAA	1	--	us2k1		1		NA	2
rs1446371151,2		--	120048437(+)	AGCCCA/GGTGCA	1	--	us2k1		0	--	--	--	--
rs1385294071,2		--	120048471(+)	CTACTC/TCGGAG	1	--	us2k1		0	--	--	--	--
rs75428271,2	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

Disorders / Diseases
for HSD3B1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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3 diseases for HSD3B1

2 Novoseek inferred disease relationships for HSD3B1 gene    About this table

Publications
for HSD3B1 gene

(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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1. 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)
2. 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)
3. 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)
4. 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)
5. 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)
6. 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)
7. 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)
8. 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)
9. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)^{1, 4} Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
10. 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)

External Searches for HSD3B1 gene

Genome Databases showing HSD3B1 gene

Other Databases showing HSD3B1 gene

Specialized Databases showing HSD3B1 gene

Products
for HSD3B1 gene

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Advanced Cell Diagnostics, Animal models from genOway)
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