Property Summary

NCBI Gene PubMed Count 63
PubMed Score 131.73
PubTator Score 148.45

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (7)

Gene RIF (39)

PMID Text
26884257 Data suggest that HSD10 plays a role in alterations of energy metabolism by regulating mtDNA content in colorectal carcinomas.
26338420 Three HSD10 variants associated with neurodegenerative disorders are inactive with cardiolipin
25925575 The study showed that pathogenic mutations impair SDR5C1-dependent dehydrogenation, tRNA processing and methylation.
25879199 Our findings demonstrate that overexpression of HSD10 accelerates pheochromocytoma cell growth, enhances cell respiration, and increases cellular resistance to cell death induction.
25575635 The authors demonstrate elevated amounts of unprocessed pre-tRNAs and mRNA transcripts encoding mitochondrial subunits indicating deficient RNase P activity in HSD10 disease.
25375021 upon exposure to E2, ERalpha rapidly localizes to mitochondria, in which it interacts with HSD17B10 to modulate the expression of mitochondrial RNA transcripts.
25007702 Defects in this gene are a cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. The encoded protein does not exhibit generalized alcohol dehydrogenase activity as was previously thought.
24549042 loss of HSD10 causes impaired mitochondrial precursor transcript processing which may explain mitochondrial dysfunction observed in HSD10 disease
24244276 Significantly higher levels of SRD5A1, AKR1C2, AKR1C3, and HSD17B10 mRNA were however found in bone metastases than in non-malignant and/or malignant prostate tissue
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10) expression by HIV-1 Vpr in Vpr transduced macrophages
23834306 Two major HSD17B10 transcription start sites were identified by primer extension at -37 and -6 as well as a minor start site at -12 nucleotides from the initiation codon ATG.
23755257 Inhibition of mitochondrial RNase P by beta-amyloid is an unspecific effect and is not mediated by beta-amyloid interaction with SDR5C1.
23266819 A 5-methylcytosine is present in both active and inactive X chromosomes at + 2259 nucleotide from the initiation ATG of the HSD17B10 gene, explaining the prevalence of the p.R130C mutation among HSD10 deficiency patients.
23166591 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10) expression by HIV-1 Vpr in Vpr transduced macrophages
22174920 The role of ABAD in amyloid beta toxicity, was investigated.
22127393 analysis of clinical consequences of mutations in the HSD17B10 gene
21382475 behavioral stress causes protein up-regulation in the brain of a mouse model of Alzheimer disease
20664630 These results suggest that the HSD17B10 gene does not escape X-inactivation as has been reported previously.
20638476 HSD17B10 is regulated by several isoforms of C/EBP-beta in HepG2 cells.
20077426 This finding indicates that the symptoms in patients with mutations in the HSD17B10 gene are unrelated to accumulation of toxic metabolites in the isoleucine pathway and, rather, related to defects in general mitochondrial function.
19756307 The data indicated pronounced increases in the 17beta-hydroxysteroid dehydrogenase type 10 levels, specifically to 179% in multiple sclerosis and to 573% in Alzheimer disease when compared to the age-matched controls.
19706438 results support the theory that an imbalance in neurosteroid metabolism could be a major cause of the neurological handicap associated with hydroxysteroid (17beta) dehydrogenase 10 deficiency.
19601895 Amyloid-beta-peptide binding to mitochondrial Abeta-binding alcohol dehydrogenase (ABAD) enzyme triggers a series of events leading to mitochondrial dysfunction characteristic of Alzheimer's disease.
19449377 Up-rulation of HSD17B10 expression is associated with poor response to chemotherapy in conventional osteosarcomas.
19422801 These findings suggest that the ERalpha estrogen receptor might be involved in regulating intracellular estrogen levels by modulating 17beta-HSD10 activity.
19343046 Observational study of gene-disease association. (HuGE Navigator)
18765932 In Alzheimer disease and schizophrenia, significant shifts to left/right asymmetry were found and the changes were associated with more marked increases in mRNA/enzyme expression in the left hemisphere
18252223 Increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of X-Linked Mental Retardation.
17917077 Data suggest that thioredoxin could not only assist ABAD-inhibiting peptide expression, but rebalance the disturbed "redox equilibrium" caused by intracellular amyloid beta in PC12 cells.
17707551 These results propose an additional role of ABAD in neural cell death in AD.
17236142 Reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein.
15804423 Brain astrocytes contain a moderate level of 17beta-HSD10, which is elevated in activated astrocytes of brains with Alzheimer type pathology, including sporadic Alzheimer's disease (AD) and Down syndrome with AD.
15665036 findings link amyloid-beta peptide (Abeta) binding alcohol dehydrogenase (ABAD)-induced oxidant stress to critical aspects of Alzheimer's disease (AD)-associated cellular dysfunction, suggesting a pivotal role for this enzyme in the pathogenesis of AD
15342248 crystal structure of ABAD/HSD10 complexed with NAD(+) and an inhibitory small molecule
15087549 Abeta interacts with ABAD in the mitochondria of Alzheimer's disease patients and transgenic mice; data suggest that the ABAD-Abeta interaction may be a therapeutic target in Alzheimer's disease
15087549 Here, we demonstrate that Abeta-binding alcohol dehydrogenase (ABAD) is a direct molecular link from Abeta to mitochondrial toxicity.
12917011 Comparison of substrate specificity of human and Drosophila melanogaster type 10 17b-hydroxysteroid dehydrogenases
12696021 Sequence analysis of the HADH2 gene from patients with MHBD deficiency revealed the presence of two missense mutations (R130C and L122V)which almost completely abolish enzyme activity
11559359 tissue distribution, subcellular localization, and metabolic functions

AA Sequence

MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKD      1 - 70
VQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNE     71 - 140
PDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPLLTSLP    141 - 210
EKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFLNGEVIRLDGAIRMQP                       211 - 261
//

Text Mined References (67)

PMID Year Title
26884257 2016 17?-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26338420 2015 Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25925575 2015 Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
25879199 2015 Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
25575635 2015 Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
25375021 2015 Estrogen-mediated regulation of mitochondrial gene expression.
25007702 2014 Roles of 17?-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders.
24549042 2014 Mutation or knock-down of 17?-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24244276 2013 Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.
23834306 2013 Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter.
23755257 2013 The amyloid-?-SDR5C1(ABAD) interaction does not mediate a specific inhibition of mitochondrial RNase P.
23266819 2013 A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22271489 2013 Changes of the HSD17B10 gene expression levels in ulcerative colitis.
22174920 2011 Inhibition of the mitochondrial enzyme ABAD restores the amyloid-?-mediated deregulation of estradiol.
22127393 2012 HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
21382475 2011 Behavioral stress causes mitochondrial dysfunction via ABAD up-regulation and aggravates plaque pathology in the brain of a mouse model of Alzheimer disease.
21269460 2011 Initial characterization of the human central proteome.
20664630 2010 X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17?-hydroxysteroid dehydrogenase 10 deficiency.
20638476 2010 Type 10 17?-hydroxysteroid dehydrogenase expression is regulated by C/EBP? in HepG2 cells.
20077426 2010 A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
19756307 2009 Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis.
19706438 2009 Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
19601895 2009 ABAD: a potential therapeutic target for Abeta-induced mitochondrial dysfunction in Alzheimer's disease.
19449377 2009 Molecular characterization of the response to chemotherapy in conventional osteosarcomas: predictive value of HSD17B10 and IFITM2.
19422801 2009 Estrogen receptor alpha interacts with 17beta-hydroxysteroid dehydrogenase type 10 in mitochondria.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
18984158 2008 RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme.
18765932 2008 Lateralization of 17beta-hydroxysteroid dehydrogenase type 10 in hippocampi of demented and psychotic people.
18252223 2008 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
17917077 2007 Stable expression of a novel fusion peptide of thioredoxin-1 and ABAD-inhibiting peptide protects PC12 cells from intracellular amyloid-beta.
17707551 2009 Cytoprotective role of mitochondrial amyloid beta peptide-binding alcohol dehydrogenase against a cytotoxic aldehyde.
17618155 HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
17236142 2007 The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
16899120 2006 Comparative evolutionary genomics of the HADH2 gene encoding Abeta-binding alcohol dehydrogenase/17beta-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10).
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16176262 2005 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
16148061 2005 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
16021519 2005 A two-dimensional electrophoresis reference map of human ovary.
15804423 2005 Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
15772651 2005 The DNA sequence of the human X chromosome.
15665036 2005 ABAD enhances Abeta-induced cell stress via mitochondrial dysfunction.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342248 2004 Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics.
15087549 2004 ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.
14672739 2003 Oxidative 3alpha-hydroxysteroid dehydrogenase activity of human type 10 17beta-hydroxysteroid dehydrogenase.
12917011 2003 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.
12696021 2003 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11869808 2002 Abundant type 10 17 beta-hydroxysteroid dehydrogenase in the hippocampus of mouse Alzheimer's disease model.
11559359 2001 Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase.
11430884 2001 Deposition of Alzheimer's vascular amyloid-beta is associated with decreased expression of brain L-3-hydroxyacyl-coenzyme A dehydrogenase (ERAB).
11403151 2001 Role of type 10 17beta-hydroxysteroid dehydrogenase in the pathogenesis of Alzheimer's disease.
10600649 2000 Intrinsic alcohol dehydrogenase and hydroxysteroid dehydrogenase activities of human mitochondrial short-chain L-3-hydroxyacyl-CoA dehydrogenase.
10371197 1999 Binding of amyloid beta-peptide to mitochondrial hydroxyacyl-CoA dehydrogenase (ERAB): regulation of an SDR enzyme activity with implications for apoptosis in Alzheimer's disease.
10329704 1999 Human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase is a single-domain multifunctional enzyme. Characterization of a novel 17beta-hydroxysteroid dehydrogenase.
9890977 1999 Role of ERAB/L-3-hydroxyacyl-coenzyme A dehydrogenase type II activity in Abeta-induced cytotoxicity.
9851691 1998 The gene for the Alzheimer-associated beta-amyloid-binding protein (ERAB) is differentially expressed in the testicular Leydig cells of the azoospermic by w/w(v) mouse.
9712734 1998 ERAB contains a putative noncleavable signal peptide.
9671743 1998 Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.
9553139 1998 A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease.
9338779 1997 An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease.
8687463 1996 Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.