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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
  • Short Chain Dehydrogenase/Reductase Family 11E, Member 1 2 3
  • Trophoblast Antigen FDO161G 3 4
  • 3-Beta-HSD I 3 4
  • HSDB3A 3 4
  • 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 1 3
  • 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
  • 3BETAHSD 3
  • EC 1.1.1 61
  • 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

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 Leydig Cell Tumor and Lipoid Adrenal Hyperplasia. Among its related pathways are Metabolism of steroid hormones and Metabolism. GO annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is HSD3B2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD3B1 Gene

Genomics for HSD3B1 Gene

Regulatory Elements for HSD3B1 Gene

Enhancers for HSD3B1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F119510 0.3 FANTOM5 5.4 +3.1 3148 0.4 HSD3B1 GAPDHP32
GH01F119605 0.6 FANTOM5 2.5 +98.1 98116 0.2 PKNOX1 YY2 ZNF366 ZNF600 FOS ZNF697 PHGDH HSD3B1 HSD3BP5 GC01M119620
GH01F119516 0.4 ENCODE 0.4 +9.7 9674 0.5 CTCF HSD3B1 GAPDHP32
GH01F119517 0.2 ENCODE 0.4 +10.6 10649 0.2 HSD3B1 GAPDHP32
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSD3B1 on UCSC Golden Path with GeneCards custom track

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 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

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 :
  • 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

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:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity ISS,TAS --
GO:0004769 steroid delta-isomerase activity ISS,TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with HSD3B1: view

Phenotypes for HSD3B1 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for HSD3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IDA 8274411
GO:0005758 mitochondrial intermembrane space IDA 8274411
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
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

UniProtKB/Swiss-Prot P14060-3BHS1_HUMAN

  • Pathway: Lipid metabolism; steroid biosynthesis.

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

No data available for SIGNOR curated interactions for HSD3B1 Gene

Drugs & Compounds for HSD3B1 Gene

(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, Vet_approved, Withdrawn Pharma inhibitor, Target 2
Progesterone Approved, Vet_approved Pharma Full agonist, Activator Endogenous progesterone receptor agonist 537
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 546
Hydrocortisone Approved, Vet_approved Pharma Agonist Adrenal glucocorticoid; immunosuppressant 640
Dehydroepiandrosterone Approved Nutra 95

(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

Unigene Clusters for HSD3B1 Gene

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

Inhibitory RNA Products

Clone 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 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, PaxDb, and MOPED for HSD3B1 Gene



NURSA nuclear receptor signaling pathways regulating expression of HSD3B1 Gene:

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

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
chimpanzee
(Pan troglodytes)
Mammalia HSD3B1 34 35
  • 99.2 (n)
cow
(Bos Taurus)
Mammalia HSD3B 35
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia HSD3B 35
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hsd3b2 34 35
  • 77.3 (n)
Hsd3b1 35
  • 72 (a)
ManyToMany
Hsd3b3 35
  • 71 (a)
ManyToMany
Hsd3b6 16 35
  • 70 (a)
Hsd3b5 35
  • 69 (a)
ManyToMany
Gm10681 35
  • 68 (a)
ManyToMany
Gm4450 35
  • 68 (a)
ManyToMany
Hsd3b4 35
  • 68 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 50 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 33 (a)
OneToMany
chicken
(Gallus gallus)
Aves HSD3B2 35
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii hsd3b1 35
  • 46 (a)
ManyToMany
hsd3b2 35
  • 44 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7724 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32D5.12 35
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
Species where no ortholog for HSD3B1 was found in the sources mined by GeneCards:
  • 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
rs587776503 untested 119,514,235(+) CCTTG(A/T)GGGCC reference, missense
rs1047303 -- 119,514,623(+) GGAGA(A/C)CCTGA reference, missense
rs10754400 -- 119,515,359(+) GATTA(G/T)TGGCT downstream-variant-500B
rs111240007 -- 119,509,575(+) AGAGG(C/T)GGAAC intron-variant
rs111289383 -- 119,511,768(+) CTGTG(C/T)TCTGG intron-variant

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)

Relevant External Links for HSD3B1 Gene

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

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

Disorders for HSD3B1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
testicular leydig cell tumor
  • testicular leydig cell neoplasm
lipoid adrenal hyperplasia
  • lipoid congenital adrenal hyperplasia
steroid inherited metabolic disorder
  • steroid metabolism, inborn errors
adrenal rest tumor
  • adrenal rest neoplasm
mycetoma
  • madura foot
- 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. 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 22 46 64
  2. 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 22 46 64
  3. 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 22 46 64
  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. (J. Clin. Endocrinol. Metab. 2004) 3 22 46 64
  5. 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 22 46 64

Products for HSD3B1 Gene

Sources for HSD3B1 Gene

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