Details for: HSD3B1

Gene ID: 3283

Symbol: HSD3B1

Ensembl ID: ENSG00000203857

Description: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 5.0600
    Cell Significance Index: 31.4400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 3.1247
    Cell Significance Index: 46.8200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.3310
    Cell Significance Index: 62.2400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1157
    Cell Significance Index: 1.7900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1045
    Cell Significance Index: 16.9900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0921
    Cell Significance Index: 17.5400
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.0790
    Cell Significance Index: 0.7500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0490
    Cell Significance Index: 2.9400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0343
    Cell Significance Index: 1.5600
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 0.0180
    Cell Significance Index: 0.1300
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: 0.0151
    Cell Significance Index: 0.0800
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 0.0079
    Cell Significance Index: 0.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0002
    Cell Significance Index: 0.0100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0002
    Cell Significance Index: -0.0100
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.0027
    Cell Significance Index: -0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0068
    Cell Significance Index: -12.7900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0112
    Cell Significance Index: -20.6900
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0129
    Cell Significance Index: -0.1300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0135
    Cell Significance Index: -20.8400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0180
    Cell Significance Index: -7.9600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0204
    Cell Significance Index: -2.0200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0262
    Cell Significance Index: -5.2600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0314
    Cell Significance Index: -11.2500
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.0416
    Cell Significance Index: -0.3700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0468
    Cell Significance Index: -5.1000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0561
    Cell Significance Index: -11.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0574
    Cell Significance Index: -16.5300
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0625
    Cell Significance Index: -0.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0650
    Cell Significance Index: -11.7100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0837
    Cell Significance Index: -12.1600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0861
    Cell Significance Index: -5.9600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0943
    Cell Significance Index: -16.1000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0961
    Cell Significance Index: -11.8200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1029
    Cell Significance Index: -11.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1031
    Cell Significance Index: -2.9700
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.1053
    Cell Significance Index: -1.1400
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1053
    Cell Significance Index: -1.0600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1090
    Cell Significance Index: -7.7100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1107
    Cell Significance Index: -2.8500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1279
    Cell Significance Index: -4.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1294
    Cell Significance Index: -3.2400
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.1392
    Cell Significance Index: -1.9800
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.1404
    Cell Significance Index: -1.3900
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: -0.1504
    Cell Significance Index: -0.3500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1563
    Cell Significance Index: -21.4600
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.1781
    Cell Significance Index: -1.8200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1788
    Cell Significance Index: -12.0200
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1889
    Cell Significance Index: -2.8300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1891
    Cell Significance Index: -2.8500
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.1914
    Cell Significance Index: -2.4300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2066
    Cell Significance Index: -4.4000
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.2154
    Cell Significance Index: -2.8200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2292
    Cell Significance Index: -14.0600
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.2338
    Cell Significance Index: -2.6900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2482
    Cell Significance Index: -15.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2562
    Cell Significance Index: -5.5500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2571
    Cell Significance Index: -19.7300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3209
    Cell Significance Index: -11.2400
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.3399
    Cell Significance Index: -2.3600
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.3517
    Cell Significance Index: -2.3300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3565
    Cell Significance Index: -20.0100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4079
    Cell Significance Index: -10.9300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4127
    Cell Significance Index: -21.4400
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.4143
    Cell Significance Index: -2.6400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4223
    Cell Significance Index: -13.8300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4335
    Cell Significance Index: -12.3700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4336
    Cell Significance Index: -13.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4456
    Cell Significance Index: -19.7100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.4676
    Cell Significance Index: -16.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5165
    Cell Significance Index: -19.5600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5500
    Cell Significance Index: -13.7200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.6175
    Cell Significance Index: -13.5200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.6290
    Cell Significance Index: -10.5800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6350
    Cell Significance Index: -13.7200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6427
    Cell Significance Index: -13.6400
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.6450
    Cell Significance Index: -12.6100
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.6518
    Cell Significance Index: -5.3200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.6533
    Cell Significance Index: -12.0800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6569
    Cell Significance Index: -13.7100
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.6784
    Cell Significance Index: -8.0100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.6814
    Cell Significance Index: -13.6800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6908
    Cell Significance Index: -13.6600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.6955
    Cell Significance Index: -13.8700
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.7047
    Cell Significance Index: -13.8700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.7097
    Cell Significance Index: -17.0200
  • Cell Name: alveolar type 1 fibroblast cell (CL4028004)
    Fold Change: -0.7635
    Cell Significance Index: -8.0800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.7846
    Cell Significance Index: -19.9900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.7915
    Cell Significance Index: -13.6900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.8036
    Cell Significance Index: -20.0700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.8126
    Cell Significance Index: -13.6000
  • Cell Name: colonocyte (CL1000347)
    Fold Change: -0.8196
    Cell Significance Index: -5.0700
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.8231
    Cell Significance Index: -10.4000
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.8238
    Cell Significance Index: -8.6900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.8795
    Cell Significance Index: -9.1100
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.9116
    Cell Significance Index: -10.8700
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.9271
    Cell Significance Index: -13.8700
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.9330
    Cell Significance Index: -12.9400
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.9436
    Cell Significance Index: -11.9500
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: -0.9472
    Cell Significance Index: -9.3800
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.9515
    Cell Significance Index: -12.3400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Steroid hormone biosynthesis**: HSD3B1 is a key enzyme in the biosynthesis of steroid hormones, including androgens (e.g., testosterone), estrogens (e.g., estradiol), and glucocorticoids (e.g., cortisol). 2. **3-beta-hydroxysteroid dehydrogenase activity**: HSD3B1 exhibits 3-beta-hydroxysteroid dehydrogenase activity, which involves the reduction of 17-hydroxysteroid dehydrogenase products to their respective 3-beta-hydroxysteroid derivatives. 3. **Steroid delta-isomerase activity**: HSD3B1 also exhibits steroid delta-isomerase activity, which involves the conversion of delta-5 to delta-4 isomers. 4. **Expression in various cell types**: HSD3B1 is expressed in a wide range of cell types, including plasma cells, enterocytes, B cells, and trophoblast giant cells. **Pathways and Functions** 1. **Androgen biosynthesis**: HSD3B1 is involved in the biosynthesis of androgens, including testosterone, which plays a critical role in male reproductive development and function. 2. **Estrogen biosynthesis**: HSD3B1 is also involved in the biosynthesis of estrogens, including estradiol, which plays a crucial role in female reproductive development and function. 3. **Glucocorticoid biosynthesis**: HSD3B1 is involved in the biosynthesis of glucocorticoids, including cortisol, which plays a critical role in the regulation of metabolism, immune response, and stress response. 4. **Regulation of steroid hormone biosynthesis**: HSD3B1 regulates the biosynthesis of steroid hormones by converting 17-hydroxysteroid dehydrogenase products to their respective 3-beta-hydroxysteroid derivatives. **Clinical Significance** 1. **Androgen insensitivity syndrome**: Mutations in the HSD3B1 gene have been associated with androgen insensitivity syndrome, a condition characterized by impaired male reproductive development and function. 2. **Hypogonadism**: HSD3B1 deficiency has been linked to hypogonadism, a condition characterized by impaired gonadal function and hormone production. 3. **Cancer**: HSD3B1 has been implicated in the development and progression of certain cancers, including prostate cancer and breast cancer. 4. **Metabolic disorders**: HSD3B1 has been linked to metabolic disorders, including obesity and insulin resistance, due to its role in regulating steroid hormone biosynthesis. In conclusion, HSD3B1 is a crucial enzyme involved in the biosynthesis of steroid hormones, including androgens, estrogens, and glucocorticoids. Its dysregulation has been implicated in various clinical disorders, including androgen insensitivity syndrome, hypogonadism, cancer, and metabolic disorders. Further research is needed to fully understand the role of HSD3B1 in human health and disease.

Genular Protein ID: 2773142916

Symbol: 3BHS1_HUMAN

Name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

UniProtKB Accession Codes:

P14060 A8K691 Q14545 Q8IV65

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 51 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 12 DrugCentral 1 EC 5 EMBL 14 Ensembl 2 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 12 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2779585

Title: Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase.

PubMed ID: 2779585

DOI: 10.1210/mend-3-8-1310

PubMed ID: 2139411

Title: Human 3 beta-hydroxysteroid dehydrogenase/delta 5-->4-isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids.

PubMed ID: 2139411

DOI: 10.1210/endo-126-5-2493

PubMed ID: 2082186

Title: Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5-->4-isomerase.

PubMed ID: 2082186

DOI: 10.1210/mend-4-12-1850

PubMed ID: 2243100

Title: Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells.

PubMed ID: 2243100

DOI: 10.1016/s0021-9258(17)30528-8

PubMed ID: 1920284

Title: Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase.

PubMed ID: 1920284

DOI: 10.1530/jrf.0.0930149

PubMed ID: 1401999

Title: Characterization, expression, and immunohistochemical localization of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in human skin.

PubMed ID: 1401999

DOI: 10.1111/1523-1747.ep12616131

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

Sequence Information:

  • Length: 373
  • Mass: 42252
  • Checksum: 2C76616E7EA7433A
  • Sequence:
    • MTGWSCLVTG AGGFLGQRII RLLVKEKELK EIRVLDKAFG PELREEFSKL QNKTKLTVLE 
GDILDEPFLK RACQDVSVII HTACIIDVFG VTHRESIMNV NVKGTQLLLE ACVQASVPVF 
IYTSSIEVAG PNSYKEIIQN GHEEEPLENT WPAPYPHSKK LAEKAVLAAN GWNLKNGGTL 
YTCALRPMYI YGEGSRFLSA SINEALNNNG ILSSVGKFST VNPVYVGNVA WAHILALRAL 
QDPKKAPSIR GQFYYISDDT PHQSYDNLNY TLSKEFGLRL DSRWSFPLSL MYWIGFLLEI 
VSFLLRPIYT YRPPFNRHIV TLSNSVFTFS YKKAQRDLAY KPLYSWEEAK QKTVEWVGSL 
VDRHKETLKS KTQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.