Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HSD3B1 Gene

Aliases for HSD3B1 Gene

  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1 2 3
  • 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type I 3 4
  • Trophoblast Antigen FDO161G 3 4
  • 3-Beta-HSD I 3 4
  • HSDB3A 3 4
  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta-And Steroid Delta-Isomerase 1 3
  • 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 1 3
  • Short Chain Dehydrogenase/Reductase Family 11E, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 11E 2
  • 3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase 3
  • 3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase 3
  • Delta-5-3-Ketosteroid Isomerase 3
  • Steroid Delta-Isomerase 3
  • Progesterone Reductase 3
  • Member 1 2
  • 3BETAHSD 3
  • EC 1.1.1 63
  • SDR11E1 3
  • HSD3B 3
  • HSDB3 3
  • 3BH 4
  • I 3

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

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 mycetoma and patent ductus arteriosus. Among its related pathways are Metabolism and Metabolism. 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 NSDHL.

UniProtKB/Swiss-Prot for HSD3B1 Gene

  • 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD3B1 Gene

Genomics for HSD3B1 Gene

Regulatory Elements for HSD3B1 Gene

Genomic Location for HSD3B1 Gene

Start:
119,507,198 bp from pter
End:
119,515,058 bp from pter
Size:
7,861 bases
Orientation:
Plus strand

Genomic View for HSD3B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HSD3B1 Gene at MOPED

Selected DME Specific Peptides for HSD3B1 Gene

Post-translational modifications for HSD3B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD3B1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for HSD3B1 Gene

Gene Families for HSD3B1 Gene

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

Protein Domains for HSD3B1 Gene

Suggested Antigen Peptide Sequences for HSD3B1 Gene

Graphical View of Domain Structure for InterPro Entry

P14060

UniProtKB/Swiss-Prot:

3BHS1_HUMAN :
  • P14060
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

GENATLAS Biochemistry: hydroxysteroid 3-beta,dehydrogenase/steroid delta 5-delta 4 isomerase,type I,NADH dependent,microsomal,expressed in placenta and peripheral tissues
UniProtKB/Swiss-Prot CatalyticActivity: A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH
UniProtKB/Swiss-Prot CatalyticActivity: A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for HSD3B1 Gene

Gene Ontology (GO) - Molecular Function for HSD3B1 Gene

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:0016491 oxidoreductase activity --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
genes like me logo Genes that share ontologies with HSD3B1: view

Animal Model Products

CRISPR Products

miRNA for HSD3B1 Gene

miRTarBase miRNAs that target HSD3B1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSD3B1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for HSD3B1 Gene COMPARTMENTS Subcellular localization image for HSD3B1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
cytoskeleton 2
cytosol 2
extracellular 2
nucleus 2
plasma membrane 2
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HSD3B1 Gene

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 --
genes like me logo Genes that share ontologies with HSD3B1: view

Pathways for HSD3B1 Gene

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

UniProtKB/Swiss-Prot P14060-3BHS1_HUMAN

  • Pathway: Lipid metabolism; steroid biosynthesis

Interacting Proteins for HSD3B1 Gene

Gene Ontology (GO) - Biological Process for HSD3B1 Gene

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 --
genes like me logo Genes that share ontologies with HSD3B1: view

Compounds for HSD3B1 Gene

(23) HMDB Compounds for HSD3B1 Gene

Compound Synonyms Cas Number PubMed IDs
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
Not Available
16a-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-16alpha-ol-3,17-dione
63-02-5
16a-Hydroxydehydroisoandrosterone
  • 16-Hydroxydehydroandrosterone
1232-73-1
17a,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
1167-48-2
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
387-79-1

(3) Drugbank Compounds for HSD3B1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4-Androstenedione
63-05-8 target positive allosteric modulator
NADH
  • beta-DPNH
606-68-8 target
Trilostane
13647-35-3 target inhibitor

(6) Novoseek inferred chemical compound relationships for HSD3B1 Gene

Compound -log(P) Hits PubMed IDs
3beta-hydroxysteroid 91.1 9
steroid 61.7 3
progesterone 38.2 2
testosterone 35.8 2
cholesterol 15.7 4
genes like me logo Genes that share compounds with HSD3B1: view

Transcripts for HSD3B1 Gene

Unigene Clusters for HSD3B1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSD3B1

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HSD3B1 Gene

GeneLoc Exon Structure for
HSD3B1
ECgene alternative splicing isoforms for
HSD3B1

Expression for HSD3B1 Gene

mRNA expression in normal human tissues 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 (27.5), Skin - Not Sun Exposed (Suprapubic) (13.2), and Skin - Sun Exposed (Lower leg) (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HSD3B1 Gene

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. Predominantly expressed in mammary gland tissue
genes like me logo Genes that share expressions with HSD3B1: view

In Situ Assay Products

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 35
  • 99.2 (n)
  • 99.2 (a)
HSD3B1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSD3B 36
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia HSD3B 36
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm10681 36
  • 68 (a)
ManyToMany
Gm4450 36
  • 68 (a)
ManyToMany
Hsd3b1 36
  • 72 (a)
ManyToMany
Hsd3b2 35
  • 77.3 (n)
  • 71.05 (a)
Hsd3b2 36
  • 71 (a)
ManyToMany
Hsd3b3 36
  • 71 (a)
ManyToMany
Hsd3b4 36
  • 68 (a)
ManyToMany
Hsd3b5 36
  • 69 (a)
ManyToMany
Hsd3b6 16
Hsd3b6 36
  • 70 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 33 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves HSD3B2 36
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii hsd3b1 36
  • 46 (a)
ManyToMany
hsd3b2 36
  • 44 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7724 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32D5.12 36
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for HSD3B1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for HSD3B1 Gene

Paralogs for HSD3B1 Gene

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

Pseudogenes.org Pseudogenes for HSD3B1 Gene

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

Variants for HSD3B1 Gene

Sequence variations from dbSNP and Humsavar for HSD3B1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs6200 -- 119,511,585(+) GACGT(C/T)TCGGT reference, synonymous-codon
rs6201 - 119,511,592(+) CGGTC(A/G)TCATC reference, missense
rs6202 -- 119,511,627(+) TTCGG(A/T)GTCAC synonymous-codon, reference
rs6203 -- 119,514,535(+) GAGAT(C/T)TGGCG reference, synonymous-codon
rs6204 -- 119,514,684(+) GTTAG(G/T)AGATG utr-variant-3-prime

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

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

Relevant External Links for HSD3B1 Gene

HapMap Linkage Disequilibrium report
HSD3B1
Human Gene Mutation Database (HGMD)
HSD3B1

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

Disorders for HSD3B1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for HSD3B1 Gene including...

Search for HSD3B1 Gene in MalaCards »

(2) Novoseek inferred disease relationships for HSD3B1 Gene

Disease -log(P) Hits PubMed IDs
adrenal hyperplasia congenital 62.3 1
prostate cancer 26.7 4

Relevant External Links for HSD3B1

Genetic Association Database (GAD)
HSD3B1
Human Genome Epidemiology (HuGE) Navigator
HSD3B1
genes like me logo Genes that share disorders with HSD3B1: view

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

Publications for HSD3B1 Gene

  1. Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase. (PMID: 1920284) Nickson D.A. … Sutcliffe R.G. (J. Reprod. Fertil. 1991) 3 4 23
  2. Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. (PMID: 11912155) Chang B.L. … Xu J. (Cancer Res. 2002) 3 23 48
  3. 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. (J. Clin. Endocrinol. Metab. 2004) 3 23 48
  4. Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. (PMID: 17507624) Cunningham J.M. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 23 48
  5. Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain. (PMID: 19197249) Tripodi G. … Manunta P. (Am. J. Hypertens. 2009) 3 23 48

Products for HSD3B1 Gene

Sources for HSD3B1 Gene

Back to Top

Content