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HSD3B1 Gene(Protein Coding)

Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1

GCID:
GC01P119507
GIFtS:
63
Genes Participants
UDN Logo

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 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
  • 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 Testicular Leydig Cell Tumor and Congenital Adrenal Hyperplasia. Among its related pathways are Metabolism of steroid hormones and Prostate Cancer. GO annotations related to this gene include oxidoreductase activity and coenzyme binding. 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

Products:

  1. Regulatory Element

Regulatory Elements for HSD3B1 Gene

Enhancers for HSD3B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HSD3B1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HSD3B1 gene promoter:

Genomic Location for HSD3B1 Gene

Chromosome:
1
Start:
119,507,124 bp from pter
End:
119,515,060 bp from pter
Size:
7,937 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 Structure • Gene Density

RefSeq DNA sequence for HSD3B1 Gene

Proteins for HSD3B1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for HSD3B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for HSD3B1 Gene

P14060:

Post-translational modifications for HSD3B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD3B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HSD3B1 Gene

Gene Families for HSD3B1 Gene

HGNC:

Protein Domains for HSD3B1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HSD3B1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

Phenotypes for HSD3B1 Gene

GenomeRNAi human phenotypes for HSD3B1:
genes like me logo Genes that share phenotypes with HSD3B1: view

Animal Model Products

miRNA for HSD3B1 Gene

miRTarBase miRNAs that target HSD3B1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for HSD3B1 Gene COMPARTMENTS Subcellular localization image for HSD3B1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
extracellular 2
nucleus 2
plasma membrane 2
cytoskeleton 1
cytosol 1
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for HSD3B1 Gene

Pathways & Interactions 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

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000358421%0d%0a9606.ENSP00000201586%0d%0a9606.ENSP00000304811%0d%0a9606.ENSP00000362525%0d%0a9606.ENSP00000362513%0d%0a9606.ENSP00000387683%0d%0a
Selected Interacting proteins: ENSP00000358421 for HSD3B1 Gene via STRING

Gene Ontology (GO) - Biological Process for HSD3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IEA,ISS 1944309
GO:0006702 androgen biosynthetic process TAS 1944309
GO:0006703 estrogen biosynthetic process TAS 1944309
GO:0044281 small molecule metabolic 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trilostane Approved, Investigational, Withdrawn Pharma inhibitor, Target 2
Progesterone Approved Pharma Full agonist, Activator Endogenous progesterone receptor agonist 511
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 519
Hydrocortisone Approved Pharma Agonist 594
Androstenedione Experimental, Illicit Pharma Target, positive allosteric modulator 0

(11) 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
  • 16alpha-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-16alpha-ol-3,17-dione
 63-02-5
16a-Hydroxydehydroisoandrosterone
  • 16 alpha-Hydroxy-dehydroepiandrosterone
  • 16-Hydroxydehydroandrosterone
  • 16-Hydroxydehydroepiandrosterone
  • 16a-Hydroxy-DHEA
  • 16a-Hydroxydehydroandrosterone
 1232-73-1
17a,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
 1167-48-2
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
  • 17-Hydroxypregnenolone
  • 17-OH-pregnenolone
  • 17a-Hydroxypregnolone
  • 17alpha-Hydroxypregnanolone
 387-79-1
genes like me logo Genes that share compounds with HSD3B1: view

Transcripts for HSD3B1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HSD3B1 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(483) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HSD3B1 Gene

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

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues for HSD3B1 Gene

mRNA expression in normal human tissues for HSD3B1 Gene
mRNA expression by BioGPS for HSD3B1 GenemRNA expression by GTEx 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, 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 expression patterns with HSD3B1: view

Primer Products

No data available for Protein tissue co-expression partners 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
mouse
(Mus musculus)
 Mammalia Hsd3b2 35
  • 77.3 (n)
  • 71.05 (a)
Hsd3b6 16
Gm10681 36
  • 68 (a)
 ManyToMany
Gm4450 36
  • 68 (a)
 ManyToMany
Hsd3b1 36
  • 72 (a)
 ManyToMany
Hsd3b2 36
  • 71 (a)
 ManyToMany
Hsd3b3 36
  • 71 (a)
 ManyToMany
Hsd3b4 36
  • 68 (a)
 ManyToMany
Hsd3b5 36
  • 69 (a)
 ManyToMany
Hsd3b6 36
  • 70 (a)
 ManyToMany
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
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

(3) 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
rs1047303 - 119,514,623(+) GGAGA(A/C)CCTGA reference, missense
rs6201 - 119,511,592(+) CGGTC(A/G)TCATC reference, missense
rs6205 - 119,514,379(+) GGAGC(C/T)TTCCT reference, missense
rs3088283 - 119,511,518(+) CAAGA(C/T)CAAGC reference, missense
rs4986952 - 119,511,569(+) GAAGA(G/T)AGCCT reference, missense

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

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)

Relevant External Links for HSD3B1 Gene

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

(8) MalaCards diseases for HSD3B1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
testicular leydig cell tumor
  • testicular leydig cell neoplasm
congenital adrenal hyperplasia
  • adrenal hyperplasia 1
mycetoma
  • madura foot
steroid inherited metabolic disorder
  • steroid metabolism, inborn errors
adrenal rest tumor
  • adrenal rest neoplasm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HSD3B1

Genetic Association Database (GAD)
HSD3B1
Human Genome Epidemiology (HuGE) Navigator
HSD3B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD3B1
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. Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase. (PMID: 2779585) Luu-The V. … Labrie C. (Mol. Endocrinol. 1989) 2 3 4 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. 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
  4. 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 R.J. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 23
  5. Steroid biosynthesis inhibitors in the therapy of hypercortisolism: theory and practice. (PMID: 18991633) Igaz P. … RA!cz K. (Curr. Med. Chem. 2008) 25 26

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