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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.91
    Marker Score: 2131
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.51
    Marker Score: 1509
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.28
    Marker Score: 1219
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 861
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 1.19
    Marker Score: 385
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.19
    Marker Score: 493
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.15
    Marker Score: 7675
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4812
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.1
    Marker Score: 2086
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 1.03
    Marker Score: 708
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1
    Marker Score: 515
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1
    Marker Score: 2024
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 468
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.95
    Marker Score: 379
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5341
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.93
    Marker Score: 546
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.93
    Marker Score: 427
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.92
    Marker Score: 332
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.91
    Marker Score: 1569
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.86
    Marker Score: 500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.79
    Marker Score: 12382
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.76
    Marker Score: 550
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1189
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 468
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.7
    Marker Score: 678
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.7
    Marker Score: 622
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.66
    Marker Score: 529
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.57
    Marker Score: 745
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 170
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.53
    Marker Score: 318.5
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.51
    Marker Score: 422
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.42
    Marker Score: 654
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.42
    Marker Score: 202
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.42
    Marker Score: 375
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.35
    Marker Score: 1375
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.32
    Marker Score: 143
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.28
    Marker Score: 582
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 67
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.23
    Marker Score: 77
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.18
    Marker Score: 44
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.17
    Marker Score: 49
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.14
    Marker Score: 150.5
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.12
    Marker Score: 68
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.12
    Marker Score: 32
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.12
    Marker Score: 581
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.12
    Marker Score: 706
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.12
    Marker Score: 30
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.1
    Marker Score: 28
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.09
    Marker Score: 386
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 28
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.08
    Marker Score: 24
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.07
    Marker Score: 24
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.07
    Marker Score: 78
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.07
    Marker Score: 102
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.06
    Marker Score: 152
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.06
    Marker Score: 68
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.06
    Marker Score: 143
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.06
    Marker Score: 25
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.06
    Marker Score: 148
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.05
    Marker Score: 86
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.05
    Marker Score: 85
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.05
    Marker Score: 30
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.05
    Marker Score: 24
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.05
    Marker Score: 35
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.04
    Marker Score: 28
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.04
    Marker Score: 25
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.04
    Marker Score: 26
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.04
    Marker Score: 28
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.04
    Marker Score: 27
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.04
    Marker Score: 14
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.04
    Marker Score: 31
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.04
    Marker Score: 30.5
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.03
    Marker Score: 31
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.03
    Marker Score: 30
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.03
    Marker Score: 1797.5
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.03
    Marker Score: 30
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.03
    Marker Score: 26
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.02
    Marker Score: 17
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.02
    Marker Score: 26
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.02
    Marker Score: 24
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.02
    Marker Score: 226
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.02
    Marker Score: 31
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.02
    Marker Score: 24
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.02
    Marker Score: 30
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.02
    Marker Score: 30
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.02
    Marker Score: 30
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.01
    Marker Score: 21
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.01
    Marker Score: 31
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.01
    Marker Score: 19
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.01
    Marker Score: 51

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Other Information

**Key characteristics:** - It is a key enzyme in the production of androgens, including testosterone and dihydrotestosterone. - It is also involved in the degradation of androgens and the production of estradiol. - It is highly expressed in the plasma cell, enterocyte of epithelium of large intestine, B cell, intestinal crypt stem cell of small intestine, trophoblast giant cell, and goblet cell. **Pathways and functions:** - **3-beta-hydroxy-delta5-steroid dehydrogenase activity:** This activity is responsible for the conversion of 17-hydroxyprogesterone to 17-estradiol, which is a precursor to estrogen. - **3-keto sterol reductase activity:** This activity is responsible for the reduction of cholesterol to 3-hydroxysterol, which is a precursor to cholesterol. - **5alpha-androstane-3beta,17beta-diol dehydrogenase activity:** This activity is responsible for the conversion of 17-beta-estradiol to 17-hydroxyestradiol, which is a precursor to estrone. - **Androgen biosynthesis:** HSD3B1 is also involved in the biosynthesis of androgens, including testosterone and dihydrotestosterone. - **Androgen biosynthetic process:** The androgens produced by HSD3B1 are used in various biological processes, including sperm production and the development of the male reproductive tract. - **C21-steroid hormone metabolic process:** HSD3B1 is involved in the metabolism of C21-steroids, which are produced by the liver and used by the kidneys for maintenance of blood pressure and water balance. - **Cholesterol dehydrogenase activity:** HSD3B1 is involved in the metabolism of cholesterol, which is a precursor to bile acids and steroid hormones. - **Estrogen biosynthetic process:** HSD3B1 is involved in the biosynthesis of estrogen, which is produced by the ovaries. - **Glucocorticoid biosynthesis:** HSD3B1 is involved in the biosynthesis of glucocorticoids, which are produced by the adrenal glands. - **Hippocampus development:** HSD3B1 is expressed in the developing hippocampus, where it is involved in the synthesis of androgens. - **Metabolism of steroids:** HSD3B1 is involved in the metabolism of steroids, including the production of sex hormones, the breakdown of old blood cells, and the maintenance of blood pressure. **Clinical significance:** - Mutations in HSD3B1 have been linked to several human diseases, including prostate cancer, breast cancer, and infertility. - Inhibition of HSD3B1 has been shown to suppress testosterone production and lead to a reduction in androstane production. - Therefore, HSD3B1 is a promising target for the treatment of human diseases that are characterized by abnormal steroid metabolism.

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 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 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 UniProtKB 2 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. For the full schema, download it here.