The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016] See more...

Aliases for HSD3B1 Gene

Aliases for HSD3B1 Gene

  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1 2 3 5
  • 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 1 3 4
  • 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type I 3 4
  • Short Chain Dehydrogenase/Reductase Family 11E, Member 1 2 3
  • 3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase 3 4
  • 3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase 3 4
  • 3-Beta-Hydroxysteroid 3-Dehydrogenase 3 4
  • Dihydrotestosterone Oxidoreductase 3 4
  • Delta-5-3-Ketosteroid Isomerase 3 4
  • Trophoblast Antigen FDO161G 3 4
  • Steroid Delta-Isomerase 3 4
  • 3-Beta-HSD I 3 4
  • SDR11E1 2 3
  • HSDB3A 3 4
  • Progesterone Reductase 3
  • EC 1.1.1.145 4
  • EC 1.1.1.270 4
  • EC 1.1.1.210 4
  • EC 5.3.3.1 4
  • 3BETAHSD 3
  • EC 1.1.1 50
  • HSD3B1 5
  • HSD3B 3
  • HSDB3 3
  • 3BH 4

External Ids for HSD3B1 Gene

Previous HGNC Symbols for HSD3B1 Gene

  • HSDB3
  • HSD3B

Previous GeneCards Identifiers for HSD3B1 Gene

  • GC01P120496
  • GC01P118887
  • GC01P119105
  • GC01P119304
  • GC01P119761
  • GC01P119852
  • GC01P120049
  • GC01P117908

Summaries for HSD3B1 Gene

Entrez Gene Summary for HSD3B1 Gene

  • The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]

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 Testicular Sex Cord-Stromal Neoplasm and Lipoid Congenital Adrenal Hyperplasia. Among its related pathways are Corticotropin-releasing hormone signaling pathway and Androstenedione and testosterone biosynthesis and metabolism p.1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is HSD3B2.

UniProtKB/Swiss-Prot Summary for HSD3B1 Gene

  • A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo-Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolone to progesterone, 17alpha-hydroxypregnenolone to 17alpha-hydroxyprogesterone, dehydroepiandrosterone (DHEA) to 4-androstenedione, and androstenediol to testosterone. Additionally, catalyzes the interconversion between 3beta-hydroxy and 3-oxo-5alpha-androstane steroids controlling the bioavalability of the active forms. Specifically converts dihydrotestosterone to its inactive form 5alpha-androstanediol, that does not bind androgen receptor/AR. Also converts androstanedione, a precursor of testosterone and estrone, to epiandrosterone (PubMed:1401999, PubMed:2139411). Expected to use NAD(+) as preferred electron donor for the 3beta-hydroxy-steroid dehydrogenase activity and NADPH for the 3-ketosteroid reductase activity (Probable).

Gene Wiki entry for HSD3B1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD3B1 Gene

Genomics for HSD3B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSD3B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J119507 Promoter 0.3 EPDnew 250.7 0.0 -6 0.1 HSD3B1 piR-56883-010 HSD3B2 lnc-HSD3B2-1
GH01J119605 Enhancer 0.8 FANTOM5 Ensembl 2.5 +98.1 98102 6.6 ZNF600 ZFP91 CTCF SPI1 PKNOX1 YY2 ZNF366 ATF3 CREB1 FOS lnc-ZNF697-3 ZNF697 PHGDH ADAM30 GAPDHP32 HSD3B1 HSD3BP5 lnc-PHGDH-1
GH01J119510 Enhancer 0.2 FANTOM5 5.3 +3.1 3073 0.4 HSD3B1 lnc-ZNF697-4 lnc-HSD3B2-1 ZNF697
GH01J119553 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 0.3 +46.6 46559 3.5 ZNF580 NFIC ZIC2 FEZF1 ZNF341 ZNF610 ZNF843 PRDM6 ZBTB48 SCRT1 ZNF697 PHGDH HSALNG0006496 HSD3BP3 HSD3B1
GH01J119542 Enhancer 0.9 Ensembl ENCODE 0.3 +35.2 35229 2.5 CEBPA ATF3 YY1 ZNF341 FOXA2 CTBP1 RXRA ZBTB33 JUND BCL6 HSD3BP3 HSALNG0006496 HSD3B1 ZNF697
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD3B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD3B1

Top Transcription factor binding sites by QIAGEN in the HSD3B1 gene promoter:
  • COMP1
  • LCR-F1
  • Pbx1a
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA
  • RFX1
  • Sox5
  • YY1
  • ZIC2

Genomic Locations for HSD3B1 Gene

Latest Assembly
chr1:119,507,198-119,515,058
(GRCh38/hg38)
Size:
7,861 bases
Orientation:
Plus strand

Previous Assembly
chr1:120,049,826-120,057,681
(GRCh37/hg19 by Entrez Gene)
Size:
7,856 bases
Orientation:
Plus strand

chr1:120,049,821-120,057,681
(GRCh37/hg19 by Ensembl)
Size:
7,861 bases
Orientation:
Plus strand

Genomic View for HSD3B1 Gene

Genes around HSD3B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD3B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD3B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD3B1 Gene

Proteins for HSD3B1 Gene

  • Protein details for HSD3B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14060-3BHS1_HUMAN
    Recommended name:
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
    Protein Accession:
    P14060
    Secondary Accessions:
    • A8K691
    • Q14545
    • Q8IV65

    Protein attributes for HSD3B1 Gene

    Size:
    373 amino acids
    Molecular mass:
    42252 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA36001.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for HSD3B1 Gene

Selected DME Specific Peptides for HSD3B1 Gene

P14060:
  • WSCLVTGAGGFLGQRI
  • VAGPNSYK

Post-translational modifications for HSD3B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD3B1 Gene

Domains & Families for HSD3B1 Gene

Gene Families for HSD3B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HSD3B1 Gene

InterPro:
Blocks:
  • 3-beta hydroxysteroid dehydrogenase/isomerase

Suggested Antigen Peptide Sequences for HSD3B1 Gene

GenScript: Design optimal peptide antigens:
  • Trophoblast antigen FDO161G (3BHS1_HUMAN)
  • Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 1 (Q5TDG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14060

UniProtKB/Swiss-Prot:

3BHS1_HUMAN :
  • Belongs to the 3-beta-HSD family.
Family:
  • Belongs to the 3-beta-HSD family.
genes like me logo Genes that share domains with HSD3B1: view

Function for HSD3B1 Gene

Molecular function for HSD3B1 Gene

UniProtKB/Swiss-Prot Function:
A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo-Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolone to progesterone, 17alpha-hydroxypregnenolone to 17alpha-hydroxyprogesterone, dehydroepiandrosterone (DHEA) to 4-androstenedione, and androstenediol to testosterone. Additionally, catalyzes the interconversion between 3beta-hydroxy and 3-oxo-5alpha-androstane steroids controlling the bioavalability of the active forms. Specifically converts dihydrotestosterone to its inactive form 5alpha-androstanediol, that does not bind androgen receptor/AR. Also converts androstanedione, a precursor of testosterone and estrone, to epiandrosterone (PubMed:1401999, PubMed:2139411). Expected to use NAD(+) as preferred electron donor for the 3beta-hydroxy-steroid dehydrogenase activity and NADPH for the 3-ketosteroid reductase activity (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + H(+) + NADH; Xref=Rhea:RHEA:24076, ChEBI:CHEBI:1722, ChEBI:CHEBI:15378, ChEBI:CHEBI:47907, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.145; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NAD(+) + pregnenolone = H(+) + NADH + pregn-5-ene-3,20-dione; Xref=Rhea:RHEA:43924, ChEBI:CHEBI:15378, ChEBI:CHEBI:16581, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:63837; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:43932, ChEBI:CHEBI:15378, ChEBI:CHEBI:28689, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83865; EC=1.1.1.145; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=androst-5-en-3beta,17beta-diol + NAD(+) = 17beta-hydroxy-androst-5-en-3-one + H(+) + NADH; Xref=Rhea:RHEA:56932, ChEBI:CHEBI:2710, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:141179; Evidence={ECO:0000250|UniProtKB:P22071};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH; Xref=Rhea:RHEA:34787, ChEBI:CHEBI:15378, ChEBI:CHEBI:36836, ChEBI:CHEBI:47788, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.270; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH; Xref=Rhea:RHEA:16297, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:18329, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.210; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3beta-hydroxy-5alpha-androstan-17-one + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH; Xref=Rhea:RHEA:56916, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:541975; Evidence={ECO:0000250|UniProtKB:P22071};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid; Xref=Rhea:RHEA:14709, ChEBI:CHEBI:47907, ChEBI:CHEBI:47909; EC=5.3.3.1; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=pregn-5-ene-3,20-dione = progesterone; Xref=Rhea:RHEA:43928, ChEBI:CHEBI:17026, ChEBI:CHEBI:63837; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=androst-5-ene-3,17-dione = androst-4-ene-3,17-dione; Xref=Rhea:RHEA:43936, ChEBI:CHEBI:16422, ChEBI:CHEBI:83865; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-hydroxy-androst-5-en-3-one = testosterone; Xref=Rhea:RHEA:56936, ChEBI:CHEBI:17347, ChEBI:CHEBI:141179; Evidence={ECO:0000250|UniProtKB:P22071};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-androstane-3beta,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH; Xref=Rhea:RHEA:42184, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:18329, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:1401999};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.13 uM for dehydroepiandrosterone (in the presence of NAD(+)) {ECO:0000269|PubMed:1401999}; KM=0.33 uM for pregnenolone (in the presence of NAD(+)) {ECO:0000269|PubMed:1401999}; KM=2.1 uM for dihydrotestosterone (in the presence of NADH) {ECO:0000269|PubMed:1401999}; Vmax=0.93 nmol/min/mg enzyme for dehydroepiandrosterone oxidation in the presence of NAD(+) {ECO:0000269|PubMed:1401999}; Vmax=2.43 nmol/min/mg enzyme for pregnenolone oxidation in the presence of NAD(+) {ECO:0000269|PubMed:1401999}; Vmax=14.12 nmol/min/mg enzyme for dihydrotestosterone reduction in the presence of NADH {ECO:0000269|PubMed:1401999};
GENATLAS Biochemistry:
hydroxysteroid 3-beta,dehydrogenase/steroid delta 5-delta 4 isomerase,type I,NADH dependent,microsomal,expressed in placenta and peripheral tissues

Enzyme Numbers (IUBMB) for HSD3B1 Gene

Phenotypes From GWAS Catalog for HSD3B1 Gene

Gene Ontology (GO) - Molecular Function for HSD3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000253 3-keto sterol reductase activity IEA --
GO:0003824 catalytic activity IEA --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity TAS,ISS 1944309
GO:0004769 steroid delta-isomerase activity TAS,ISS 1944309
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with HSD3B1: view
genes like me logo Genes that share phenotypes with HSD3B1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD3B1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSD3B1 Gene

Localization for HSD3B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD3B1 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Mitochondrion membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD3B1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
nucleus 4
plasma membrane 3
cytoskeleton 2
peroxisome 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Cytokinetic bridge (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSD3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IDA 8274411
GO:0005758 mitochondrial intermembrane space IDA 8274411
genes like me logo Genes that share ontologies with HSD3B1: view

Pathways & Interactions for HSD3B1 Gene

genes like me logo Genes that share pathways with HSD3B1: view

Pathways by source for HSD3B1 Gene

1 GeneGo (Thomson Reuters) pathway for HSD3B1 Gene
  • Androstenedione and testosterone biosynthesis and metabolism p.1

UniProtKB/Swiss-Prot P14060-3BHS1_HUMAN

  • Pathway: Steroid hormone biosynthesis.
  • Pathway: Steroid metabolism.

Gene Ontology (GO) - Biological Process for HSD3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IBA,ISS 1944309
GO:0006702 androgen biosynthetic process TAS 1944309
GO:0006703 estrogen biosynthetic process TAS 1944309
GO:0006704 glucocorticoid biosynthetic process TAS --
genes like me logo Genes that share ontologies with HSD3B1: view

No data available for SIGNOR curated interactions for HSD3B1 Gene

Drugs & Compounds for HSD3B1 Gene

(23) Drugs for HSD3B1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trilostane Approved, Investigational, Vet_approved, Withdrawn Pharma Target, inhibitor 2
Dehydroepiandrosterone Approved, Investigational Nutra Enzyme, substrate 119
NADH Approved Nutra Target 0
Progesterone Approved, Vet_approved Pharma Endogenous progesterone receptor agonist 805
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 711

(10) Additional Compounds for HSD3B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
16a-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-16alpha-ol-3,17-dione
  • 4-Androsten-16a-ol-3,17-dione
  • 4-Androsten-16α-ol-3,17-dione
  • 16alpha-Hydroxyandrost-4-ene-3,17-dione
  • 16alpha-Hydroxyandrostenedione
63-02-5
16a-Hydroxydehydroisoandrosterone
  • 16alpha-Hydroxydehydroisoandrosterone
  • 3beta,16alpha-Dihydroxy-androst-5-en-17-one
  • 5-Androstene-3beta,16alpha-diol-17-one
  • 16Α-hydroxydehydroisoandrosterone
  • 3b,16a-Dihydroxy-androst-5-en-17-one
1232-73-1
17a,20a-Dihydroxycholesterol
  • 17a,21-Dihydroxypregnenolone
  • 17Α,21-dihydroxypregnenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17, 21-Dihydroxypregnenolone
  • 3Β,17α,21-trihydroxypregnenone
1167-48-2
17a-Hydroxypregnenolone
  • (3beta)-3,17-Dihydroxypregn-5-en-20-one
  • 17-Hydroxypregnenolone
  • 5-Pregnen-3beta,17alpha-diol-20-one
  • (3b)-3,17-Dihydroxypregn-5-en-20-one
  • (3Β)-3,17-dihydroxypregn-5-en-20-one
387-79-1
genes like me logo Genes that share compounds with HSD3B1: view

Transcripts for HSD3B1 Gene

mRNA/cDNA for HSD3B1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD3B1

Alternative Splicing Database (ASD) splice patterns (SP) for HSD3B1 Gene

No ASD Table

Relevant External Links for HSD3B1 Gene

GeneLoc Exon Structure for
HSD3B1

Expression for HSD3B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSD3B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD3B1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x27.5), Skin - Not Sun Exposed (Suprapubic) (x13.2), and Skin - Sun Exposed (Lower leg) (x5.3).

Protein differential expression in normal tissues from HIPED for HSD3B1 Gene

This gene is overexpressed in Placenta (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSD3B1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD3B1

SOURCE GeneReport for Unigene cluster for HSD3B1 Gene:

Hs.364941

mRNA Expression by UniProt/SwissProt for HSD3B1 Gene:

P14060-3BHS1_HUMAN
Tissue specificity: Placenta and skin (PubMed:1401999). Predominantly expressed in mammary gland tissue.

Evidence on tissue expression from TISSUES for HSD3B1 Gene

  • Skin(4.3)
  • Adrenal gland(3.7)
  • Nervous system(2.6)
  • Liver(2.2)
  • Heart(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with HSD3B1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD3B1 Gene

Orthologs for HSD3B1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD3B1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HSD3B1 29 30
  • 99.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HSD3B 30
  • 79 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia HSD3B 30
  • 79 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Hsd3b2 29 16 30
  • 77.3 (n)
ManyToMany
Hsd3b1 30
  • 72 (a)
ManyToMany
Hsd3b3 16 30
  • 71 (a)
ManyToMany
Hsd3b6 16 30
  • 70 (a)
ManyToMany
Hsd3b5 30
  • 69 (a)
ManyToMany
Gm4450 30
  • 68 (a)
ManyToMany
Gm10681 30
  • 68 (a)
ManyToMany
Hsd3b4 30
  • 68 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 50 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 33 (a)
OneToMany
Chicken
(Gallus gallus)
Aves HSD3B2 30
  • 50 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 49 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii hsd3b1 30
  • 46 (a)
ManyToMany
hsd3b2 30
  • 44 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG7724 30
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C32D5.12 30
  • 17 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 30
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 31 (a)
OneToMany
Species where no ortholog for HSD3B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for HSD3B1 Gene

ENSEMBL:
Gene Tree for HSD3B1 (if available)
TreeFam:
Gene Tree for HSD3B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSD3B1: view image
Alliance of Genome Resources:
Additional Orthologs for HSD3B1

Paralogs for HSD3B1 Gene

Paralogs for HSD3B1 Gene

(3) SIMAP similar genes for HSD3B1 Gene using alignment to 3 proteins:

  • 3BHS1_HUMAN
  • E9PRN7_HUMAN
  • Q5TDG2_HUMAN

Pseudogenes.org Pseudogenes for HSD3B1 Gene

genes like me logo Genes that share paralogs with HSD3B1: view

Variants for HSD3B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD3B1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1047303 Drug Response: Androgen deprivation therapy response 119,514,623(+) C/.p.Thr367Asn
NM_000862.3(HSD3B1):c.1100= (p.Thr367=)
NO_SEQUENCE_ALTERATION
rs587776503 Not Provided: not provided 119,514,235(+) A/T
NM_000862.3(HSD3B1):c.712A>T (p.Arg238Trp)
MISSENSE
rs3088283 -- p.Thr54Ile
rs4986952 -- p.Arg71Ile
rs6201 -- p.Ile79Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HSD3B1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HSD3B1 Gene

Variant ID Type Subtype PubMed ID
esv2716762 CNV deletion 23290073
esv2716784 CNV deletion 23290073
esv2758964 CNV gain+loss 17122850
esv2763647 CNV gain+loss 21179565
esv34089 CNV loss 18971310
nsv1004662 CNV gain 25217958
nsv1006564 CNV loss 25217958
nsv524681 CNV gain 19592680
nsv524727 CNV loss 19592680
nsv946184 CNV duplication 23825009

Variation tolerance for HSD3B1 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD3B1 Gene

Human Gene Mutation Database (HGMD)
HSD3B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD3B1
Leiden Open Variation Database (LOVD)
HSD3B1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD3B1 Gene

Disorders for HSD3B1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for HSD3B1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
testicular sex cord-stromal neoplasm
  • sex cord-stromal tumor of testis
lipoid congenital adrenal hyperplasia
  • lcah
bile acid synthesis defect, congenital, 1
  • cbas1
testicular leydig cell tumor
  • testicular leydig cell neoplasm
mycetoma
  • madura foot
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSD3B1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HSD3B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD3B1 Gene

Publications for HSD3B1 Gene

  1. Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. (PMID: 19505920) Beuten J … Leach RJ (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 40
  2. Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain. (PMID: 19197249) Tripodi G … Manunta P (American journal of hypertension 2009) 3 22 40
  3. Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. (PMID: 17507624) Cunningham JM … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007) 3 22 40
  4. 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. (PMID: 14764797) Carbunaru G … Pang S (The Journal of clinical endocrinology and metabolism 2004) 3 22 40
  5. Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. (PMID: 11912155) Chang BL … Xu J (Cancer research 2002) 3 22 40

Products for HSD3B1 Gene

Sources for HSD3B1 Gene