Details for: HSD17B1

Gene ID: 3292

Symbol: HSD17B1

Ensembl ID: ENSG00000108786

Description: hydroxysteroid 17-beta dehydrogenase 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: placental villous trophoblast (CL2000060)
    Fold Change: 1.92
    Marker Score: 7550
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 1.58
    Marker Score: 512
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.14
    Marker Score: 940
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71817
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48041
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 500
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 454
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.95
    Marker Score: 342
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5310
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.93
    Marker Score: 3593
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 318.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5282
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1253
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.77
    Marker Score: 7702
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 676
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.73
    Marker Score: 11353
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 289
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.7
    Marker Score: 538.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2952
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.67
    Marker Score: 2463
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.57
    Marker Score: 4908
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.57
    Marker Score: 1075
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.56
    Marker Score: 370.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 436
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.53
    Marker Score: 897
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.53
    Marker Score: 4114
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5
    Marker Score: 322
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.5
    Marker Score: 1181
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.47
    Marker Score: 965
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.47
    Marker Score: 490
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.41
    Marker Score: 415
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.38
    Marker Score: 321
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.37
    Marker Score: 397
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.37
    Marker Score: 507
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.36
    Marker Score: 173
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.36
    Marker Score: 217
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.36
    Marker Score: 952.5
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.35
    Marker Score: 966
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.35
    Marker Score: 222
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.34
    Marker Score: 364
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.34
    Marker Score: 110
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.34
    Marker Score: 167
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.34
    Marker Score: 185
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.33
    Marker Score: 103
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.33
    Marker Score: 825
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.32
    Marker Score: 320
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.31
    Marker Score: 208
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.31
    Marker Score: 456
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.31
    Marker Score: 701
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.31
    Marker Score: 510
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.3
    Marker Score: 1809
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.3
    Marker Score: 174
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.3
    Marker Score: 318
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.28
    Marker Score: 1847
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.28
    Marker Score: 112
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.28
    Marker Score: 584.5
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.28
    Marker Score: 87
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.27
    Marker Score: 387
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.27
    Marker Score: 1146
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.26
    Marker Score: 2977
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.24
    Marker Score: 55
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.24
    Marker Score: 1438
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.24
    Marker Score: 372
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.24
    Marker Score: 61
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.23
    Marker Score: 484
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.23
    Marker Score: 889
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.23
    Marker Score: 7811
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.22
    Marker Score: 151
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.22
    Marker Score: 347
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 62
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.21
    Marker Score: 62
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.21
    Marker Score: 4531
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.21
    Marker Score: 221
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 71
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.2
    Marker Score: 2100
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.2
    Marker Score: 96
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.2
    Marker Score: 52
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.2
    Marker Score: 85
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.2
    Marker Score: 78
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.19
    Marker Score: 208
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.19
    Marker Score: 61
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.19
    Marker Score: 45
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.19
    Marker Score: 670
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.19
    Marker Score: 199
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.18
    Marker Score: 77
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.18
    Marker Score: 65
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.18
    Marker Score: 53
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.18
    Marker Score: 320
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.18
    Marker Score: 275
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.18
    Marker Score: 197
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.18
    Marker Score: 158
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.18
    Marker Score: 927
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.18
    Marker Score: 78
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.17
    Marker Score: 104
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.17
    Marker Score: 55

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Other Information

**Key characteristics:** - The HSD17B1 gene is located on chromosome 17q21.1. - It is a member of the hydroxysteroid 17-beta- dehydrogenase (HSD) family of enzymes. - HSD17B1 is an enzyme that catalyzes the reduction of various steroids to their corresponding 17-hydroxy derivatives. **Pathways and functions:** - HSD17B1 is involved in the production of estradiol, which is a hormone that is involved in the development and maintenance of female reproductive organs. - It is also involved in the production of testosterone, which is a hormone that is involved in male reproductive function. - HSD17B1 is also involved in the metabolism of other steroids, including androstenedione, DHEA, and cortisone. **Clinical significance:** - Mutations in the HSD17B1 gene have been linked to a number of human diseases, including infertility, obesity, and metabolic syndrome. - These diseases are caused by mutations that disrupt the function of the HSD17B1 protein. - As a result of these mutations, the body is unable to produce or use steroids in a normal way, which can lead to a variety of health problems.

Genular Protein ID: 1490448463

Symbol: DHB1_HUMAN

Name: 20 alpha-hydroxysteroid dehydrogenase

UniProtKB Accession Codes:

P14061 B3KXS1 Q2M2L8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 18 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 9 DrugCentral 1 EC 3 EMBL 10 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 25 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 46 PDBsum 28 PIR 1 PIRSF 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 5 SABIO-RK 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2846351

Title: Complete amino acid sequence of human placental 17 beta-hydroxysteroid dehydrogenase deduced from cDNA.

PubMed ID: 2846351

DOI: 10.1016/0014-5793(88)80548-9

PubMed ID: 2779584

Title: Characterization of cDNAs for human estradiol 17 beta-dehydrogenase and assignment of the gene to chromosome 17: evidence of two mRNA species with distinct 5'-termini in human placenta.

PubMed ID: 2779584

DOI: 10.1210/mend-3-8-1301

PubMed ID: 2330005

Title: Structure of two in tandem human 17 beta-hydroxysteroid dehydrogenase genes.

PubMed ID: 2330005

DOI: 10.1210/mend-4-2-268

PubMed ID: 2197970

Title: Purification, cloning, complementary DNA structure, and predicted amino acid sequence of human estradiol 17 beta-dehydrogenase.

PubMed ID: 2197970

DOI: 10.1111/j.1749-6632.1990.tb34281.x

PubMed ID: 1327779

Title: Genomic organization and DNA sequences of human 17 beta-hydroxysteroid dehydrogenase genes and flanking regions. Localization of multiple Alu sequences and putative cis-acting elements.

PubMed ID: 1327779

DOI: 10.1111/j.1432-1033.1992.tb17310.x

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 5045524

Title: Amino acid composition and subunit structure. Human placental 17 - estradiol dehydrogenase.

PubMed ID: 5045524

DOI: 10.1021/bi00764a023

PubMed ID: 4719204

Title: Human placental 17 -oestradiol dehydrogenase. Sequence of a tryptic peptide containing an essential cysteine.

PubMed ID: 4719204

DOI: 10.1016/0014-5793(73)80554-x

PubMed ID: 3456799

Title: Human placental estradiol 17 beta-dehydrogenase: sequence of a histidine-bearing peptide in the catalytic region.

PubMed ID: 3456799

DOI: 10.1021/bi00351a019

PubMed ID: 6578212

Title: Human placental estradiol 17 beta-dehydrogenase. Identification of a single histidine residue affinity-labeled by both 3-bromoacetoxyestrone and 12 beta-bromoacetoxy-4-estrene-3,17-dione.

PubMed ID: 6578212

DOI: 10.1016/s0021-9258(17)44248-7

PubMed ID: 2547159

Title: Human placental 17 beta-hydroxysteroid dehydrogenase is homologous to NodG protein of Rhizobium meliloti.

PubMed ID: 2547159

DOI: 10.1210/mend-3-5-881

PubMed ID: 8994190

Title: Characterization of structural and functional properties of human 17 beta-hydroxysteroid dehydrogenase type 1 using recombinant enzymes and site-directed mutagenesis.

PubMed ID: 8994190

DOI: 10.1210/mend.11.1.9872

PubMed ID: 7663947

Title: Structure of human estrogenic 17 beta-hydroxysteroid dehydrogenase at 2.20-A resolution.

PubMed ID: 7663947

DOI: 10.1016/s0969-2126(01)00183-6

PubMed ID: 8756321

Title: Crystal structure of human estrogenic 17 beta-hydroxysteroid dehydrogenase complexed with 17 beta-estradiol.

PubMed ID: 8756321

DOI: 10.1038/nsb0896-665

PubMed ID: 8805577

Title: The structure of a complex of human 17beta-hydroxysteroid dehydrogenase with estradiol and NADP+ identifies two principal targets for the design of inhibitors.

PubMed ID: 8805577

DOI: 10.1016/s0969-2126(96)00098-6

PubMed ID: 9525918

Title: Unusual charge stabilization of NADP+ in 17beta-hydroxysteroid dehydrogenase.

PubMed ID: 9525918

DOI: 10.1074/jbc.273.14.8145

PubMed ID: 9927655

Title: Structure of the ternary complex of human 17beta-hydroxysteroid dehydrogenase type 1 with 3-hydroxyestra-1,3,5,7-tetraen-17-one (equilin) and NADP+.

PubMed ID: 9927655

DOI: 10.1073/pnas.96.3.840

PubMed ID: 10625652

Title: Dehydroepiandrosterone and dihydrotestosterone recognition by human estrogenic 17beta-hydroxysteroid dehydrogenase. C-18/c-19 steroid discrimination and enzyme-induced strain.

PubMed ID: 10625652

DOI: 10.1074/jbc.275.2.1105

PubMed ID: 12223444

Title: A concerted, rational design of type 1 17beta-hydroxysteroid dehydrogenase inhibitors: estradiol-adenosine hybrids with high affinity.

PubMed ID: 12223444

DOI: 10.1096/fj.02-0026fje

PubMed ID: 12490543

Title: Pseudo-symmetry of C19 steroids, alternative binding orientations, and multispecificity in human estrogenic 17beta-hydroxysteroid dehydrogenase.

PubMed ID: 12490543

DOI: 10.1096/fj.02-0397fje

PubMed ID: 14966133

Title: Cofactor hydrogen bonding onto the protein main chain is conserved in the short chain dehydrogenase/reductase family and contributes to nicotinamide orientation.

PubMed ID: 14966133

DOI: 10.1074/jbc.m313156200

PubMed ID: 8389226

Title: Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21.

PubMed ID: 8389226

DOI: 10.1093/hmg/2.4.479

Sequence Information:

  • Length: 328
  • Mass: 34950
  • Checksum: 5B5C8909F9120832
  • Sequence:
    • MARTVVLITG CSSGIGLHLA VRLASDPSQS FKVYATLRDL KTQGRLWEAA RALACPPGSL 
ETLQLDVRDS KSVAAARERV TEGRVDVLVC NAGLGLLGPL EALGEDAVAS VLDVNVVGTV 
RMLQAFLPDM KRRGSGRVLV TGSVGGLMGL PFNDVYCASK FALEGLCESL AVLLLPFGVH 
LSLIECGPVH TAFMEKVLGS PEEVLDRTDI HTFHRFYQYL AHSKQVFREA AQNPEEVAEV 
FLTALRAPKP TLRYFTTERF LPLLRMRLDD PSGSNYVTAM HREVFGDVPA KAEAGAEAGG 
GAGPGAEDEA GRGAVGDPEL GDPPAAPQ

Genular Protein ID: 1265518793

Symbol: A0A0A0MQS7_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0A0MQS7

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 13 ChiTaRS 1 DNASU 1 EC 2 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 IntAct 1 InterPro 4 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 2 PRINTS 2 PROSITE 1 PeptideAtlas 2 Pfam 1 PhylomeDB 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 2 RuleBase 1 SAM 1 SMR 1 SUPFAM 1 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 329
  • Mass: 35037
  • Checksum: E8170FB5A0D14A3D
  • Sequence:
    • MARTVVLITG CSSGIGLHLA VRLASDPSQS FKVYATLRDL KTQGRLWEAA RALACPPGSL 
ETLQLDVRDS KSVAAARERV TEGRVDVLVC NAGLGLLGPL EALGEDAVAS VLDVNVVGTV 
RMLQAFLPDM KRRGSGRVLV TGSVGGLMGL PFNDVYCASK FALEGLCESL AVLLLPFGVH 
SLSLIECGPV HTAFMEKVLG SPEEVLDRTD IHTFHRFYQY LAHSKQVFRE AAQNPEEVAE 
VFLTALRAPK PTLRYFTTER FLPLLRMRLD DPSGSNYVTA MHREVFGDVP AKAEAGAEAG 
GGAGPGAEDE AGRGAVGDPE LGDPPAAPQ

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.