Details for: HSD17B10

Gene ID: 3028

Symbol: HSD17B10

Ensembl ID: ENSG00000072506

Description: hydroxysteroid 17-beta dehydrogenase 10

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: extravillous trophoblast (CL0008036)
    Fold Change: 3.31
    Marker Score: 2957
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 2.96
    Marker Score: 1797
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 2.45
    Marker Score: 1636
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 2.38
    Marker Score: 1683
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 2.28
    Marker Score: 2376
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.15
    Marker Score: 18539
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 2.1
    Marker Score: 4385
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.08
    Marker Score: 16235
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.99
    Marker Score: 1661.5
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.97
    Marker Score: 8067
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.96
    Marker Score: 1310
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.95
    Marker Score: 8410
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.93
    Marker Score: 7570
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.91
    Marker Score: 559
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.89
    Marker Score: 1008
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.89
    Marker Score: 7280
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.85
    Marker Score: 2657
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.83
    Marker Score: 1931
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.74
    Marker Score: 6426
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.67
    Marker Score: 22039
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.65
    Marker Score: 3877
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.63
    Marker Score: 3714
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.62
    Marker Score: 2607
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.61
    Marker Score: 1721
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.6
    Marker Score: 4368
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.59
    Marker Score: 372
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.58
    Marker Score: 10090
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.57
    Marker Score: 2611
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.57
    Marker Score: 15897
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.56
    Marker Score: 5550
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.56
    Marker Score: 2923
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.55
    Marker Score: 1659
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.55
    Marker Score: 18032
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.54
    Marker Score: 1043
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.53
    Marker Score: 844
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.53
    Marker Score: 1542
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.53
    Marker Score: 1648
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.52
    Marker Score: 2424.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.52
    Marker Score: 2236
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.52
    Marker Score: 1612
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.52
    Marker Score: 1427
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.52
    Marker Score: 6299
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.51
    Marker Score: 7254
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.51
    Marker Score: 17002
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.51
    Marker Score: 3581
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.49
    Marker Score: 1980
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.48
    Marker Score: 4022
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.46
    Marker Score: 2251
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.46
    Marker Score: 915
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.46
    Marker Score: 1236
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.45
    Marker Score: 3892.5
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.45
    Marker Score: 1812
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.44
    Marker Score: 3631
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.44
    Marker Score: 3972
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.43
    Marker Score: 482
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.42
    Marker Score: 4226
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.42
    Marker Score: 2478
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.41
    Marker Score: 745
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.41
    Marker Score: 3514
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.41
    Marker Score: 1995
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 1.41
    Marker Score: 786
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.4
    Marker Score: 405
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.39
    Marker Score: 35668
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.39
    Marker Score: 2280
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1.38
    Marker Score: 509
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.38
    Marker Score: 906
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.37
    Marker Score: 18446
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.37
    Marker Score: 1387
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.36
    Marker Score: 1412
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.35
    Marker Score: 3288.5
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.34
    Marker Score: 648
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.33
    Marker Score: 376
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.32
    Marker Score: 625
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.31
    Marker Score: 13193.5
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.31
    Marker Score: 3431
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.3
    Marker Score: 8480
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.3
    Marker Score: 2309
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.3
    Marker Score: 670
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.3
    Marker Score: 12839
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.29
    Marker Score: 460
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.29
    Marker Score: 644
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.29
    Marker Score: 815
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.29
    Marker Score: 446
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.29
    Marker Score: 1211
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.29
    Marker Score: 479
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.29
    Marker Score: 71873
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.28
    Marker Score: 1142
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.28
    Marker Score: 410
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.27
    Marker Score: 314
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.25
    Marker Score: 2443
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.25
    Marker Score: 2839
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 1.25
    Marker Score: 498
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.25
    Marker Score: 522
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.24
    Marker Score: 1761
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.24
    Marker Score: 397
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 1.24
    Marker Score: 1484.5
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 1.23
    Marker Score: 732
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 1.23
    Marker Score: 424
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.22
    Marker Score: 692
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.22
    Marker Score: 42236

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Other Information

**Key characteristics:** - HSD17B10 is a glycoprotein with a molecular weight of approximately 160 kDa. - It is a member of the hydroxysteroid 17-beta dehydrogenase (HSD) family of enzymes. - HSD17B10 has a unique expression pattern, being significantly expressed in extravillous trophoblast, myeloid dendritic cell, skeletal muscle satellite cell, and immune cells. **Pathways and functions:** - HSD17B10 participates in multiple metabolic pathways, including the metabolism of steroids, fatty acids, and amino acids. - It is involved in the dehydrogenation of various substrates, including 3-hydroxy-2-methylbutyryl-CoA, 3-hydroxyacyl-CoA, 17-beta-hydroxysteroid dehydrogenase (nad+), branched-chain amino acid catabolism, cholate 7-alpha-dehydrogenase activity, estradiol 17-beta-dehydrogenase [nad(p)], metabolism of amino acids and derivatives, metabolism of proteins, metabolism of rna, mitochondrial protein degradation, protein binding, RNA binding, RNA processing, and RNA processing in the mitochondrion. **Clinical significance:** - Mutations in HSD17B10 have been linked to several human diseases, including polycystic kidney disease (PKD), obesity, and metabolic syndrome. - HSD17B10 inhibitors are being investigated as potential therapeutic agents for these diseases, as they could potentially correct the metabolic defects associated with HSD17B10 mutations.

Genular Protein ID: 474325069

Symbol: HCD2_HUMAN

Name: 3-hydroxyacyl-CoA dehydrogenase type-2

UniProtKB Accession Codes:

Q99714 Q5H927 Q6IBS9 Q8TCV9 Q96HD5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 4 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CPTAC 2 CTD 1 ChEBI 100 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 6 EMBL 13 EMDB 1 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 34 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 4 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 4 RefSeq 2 Rhea 40 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TopDownProteomics 2 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 3 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9338779

Title: An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease.

PubMed ID: 9338779

DOI: 10.1038/39522

PubMed ID: 9671743

Title: Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.

PubMed ID: 9671743

DOI: 10.1073/pnas.95.15.8709

PubMed ID: 9553139

Title: A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease.

PubMed ID: 9553139

DOI: 10.1074/jbc.273.17.10741

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 10600649

Title: Intrinsic alcohol dehydrogenase and hydroxysteroid dehydrogenase activities of human mitochondrial short-chain L-3-hydroxyacyl-CoA dehydrogenase.

PubMed ID: 10600649

DOI: 10.1042/bj3450139

PubMed ID: 12917011

Title: Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD.

PubMed ID: 12917011

DOI: 10.1042/bj20030877

PubMed ID: 17236142

Title: The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.

PubMed ID: 17236142

DOI: 10.1086/511527

PubMed ID: 18984158

Title: RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme.

PubMed ID: 18984158

DOI: 10.1016/j.cell.2008.09.013

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23042678

Title: A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.

PubMed ID: 23042678

DOI: 10.1093/nar/gks910

PubMed ID: 24703694

Title: Initial steps in RNA processing and ribosome assembly occur at mitochondrial DNA nucleoids.

PubMed ID: 24703694

DOI: 10.1016/j.cmet.2014.03.013

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26338420

Title: Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.

PubMed ID: 26338420

DOI: 10.1101/gad.268482.115

PubMed ID: 25575635

Title: Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

PubMed ID: 25575635

DOI: 10.1016/j.mito.2014.12.005

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29040705

Title: The MRPP1/MRPP2 complex is a tRNA-maturation platform in human mitochondria.

PubMed ID: 29040705

DOI: 10.1093/nar/gkx902

PubMed ID: 15342248

Title: Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics.

PubMed ID: 15342248

DOI: 10.1016/j.jmb.2004.07.071

PubMed ID: 15087549

Title: ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.

PubMed ID: 15087549

DOI: 10.1126/science.1091230

PubMed ID: 20077426

Title: A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.

PubMed ID: 20077426

DOI: 10.1002/emmm.200900055

PubMed ID: 12696021

Title: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

PubMed ID: 12696021

DOI: 10.1086/375116

PubMed ID: 16148061

Title: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.

PubMed ID: 16148061

DOI: 10.1203/01.pdr.0000176916.94328.cd

PubMed ID: 18996107

Title: Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.

PubMed ID: 18996107

DOI: 10.1016/j.clinbiochem.2008.10.006

PubMed ID: 19706438

Title: Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.

PubMed ID: 19706438

DOI: 10.1073/pnas.0902377106

PubMed ID: 22132097

Title: A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

PubMed ID: 22132097

DOI: 10.1371/journal.pone.0027348

PubMed ID: 24549042

Title: Mutation or knock-down of 17beta-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

PubMed ID: 24549042

DOI: 10.1093/hmg/ddu072

PubMed ID: 25925575

Title: Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.

PubMed ID: 25925575

DOI: 10.1093/nar/gkv408

PubMed ID: 26950678

Title: A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

PubMed ID: 26950678

DOI: 10.1080/15476286.2016.1159381

PubMed ID: 28888424

Title: Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.

PubMed ID: 28888424

DOI: 10.1016/j.bbadis.2017.09.002

Sequence Information:

  • Length: 261
  • Mass: 26923
  • Checksum: 9E74F242E3E6FEF1
  • Sequence:
    • MAAACRSVKG LVAVITGGAS GLGLATAERL VGQGASAVLL DLPNSGGEAQ AKKLGNNCVF 
APADVTSEKD VQTALALAKG KFGRVDVAVN CAGIAVASKT YNLKKGQTHT LEDFQRVLDV 
NLMGTFNVIR LVAGEMGQNE PDQGGQRGVI INTASVAAFE GQVGQAAYSA SKGGIVGMTL 
PIARDLAPIG IRVMTIAPGL FGTPLLTSLP EKVCNFLASQ VPFPSRLGDP AEYAHLVQAI 
IENPFLNGEV IRLDGAIRMQ P

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.