HSD17B10
Summary: This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| hydroxysteroid 17-beta dehydrogenase 10 | MIM:300256 | Ensembl:ENSG00000072506 | HGNC:HGNC:4800 | PA162391638 | Xp11.22 |
GO terms in HSD17B10
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006629 | lipid metabolic process |
| BP | IMP | GO:0007005 | mitochondrion organization |
| BP | TAS | GO:0009083 | branched-chain amino acid catabolic process |
| BP | IDA | GO:0051289 | protein homotetramerization |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| BP | IDA | GO:0070901 | mitochondrial tRNA methylation |
| BP | TAS | GO:0090646 | mitochondrial tRNA processing |
| BP | IDA | GO:0097745 | mitochondrial tRNA 5'-end processing |
| BP | IDA | GO:1990180 | mitochondrial tRNA 3'-end processing |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | ISS | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005759 | mitochondrial matrix |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0030678 | mitochondrial ribonuclease P complex |
| CC | TAS | GO:0030678 | mitochondrial ribonuclease P complex |
| MF | IDA | GO:0000049 | tRNA binding |
| MF | HDA | GO:0003723 | RNA binding |
| MF | EXP | GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity |
| MF | IDA | GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0008709 | cholate 7-alpha-dehydrogenase activity |
| MF | IDA | GO:0030283 | testosterone dehydrogenase [NAD(P)] activity |
| MF | IEA | GO:0047015 | 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity |
Gene expression in normal tissue: HSD17B10
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HSD17B10
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP3871 | Valproic acid pathway |
| wikipathways | WP4010 | Liver steatosis AOP |
| wikipathways | WP465 | Tryptophan metabolism |
| smpdb | SMP00032 | Valine, Leucine and Isoleucine Degradation |
| smpdb | SMP00054 | Fatty Acid Elongation In Mitochondria |
| smpdb | SMP00137 | 2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency |
| smpdb | SMP00138 | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency |
| smpdb | SMP00139 | 3-Methylglutaconic Aciduria Type I |
| smpdb | SMP00140 | 3-Methylglutaconic Aciduria Type III |
| smpdb | SMP00141 | 3-Methylglutaconic Aciduria Type IV |
| smpdb | SMP00173 | Beta-Ketothiolase Deficiency |
| smpdb | SMP00199 | Maple Syrup Urine Disease |
| smpdb | SMP00200 | Methylmalonic Aciduria |
| smpdb | SMP00236 | Propionic Acidemia |
| smpdb | SMP00237 | 3-Methylcrotonyl Coa Carboxylase Deficiency Type I |
| smpdb | SMP00238 | Isovaleric Aciduria |
| smpdb | SMP00384 | Methylmalonate Semialdehyde Dehydrogenase Deficiency |
| smpdb | SMP00480 | Mitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids |
| smpdb | SMP00521 | 3-hydroxyisobutyric acid dehydrogenase deficiency |
| smpdb | SMP00522 | 3-hydroxyisobutyric aciduria |
| smpdb | SMP00523 | Isobutyryl-coa dehydrogenase deficiency |
| smpdb | SMP00524 | Isovaleric acidemia |
| smpdb | SMP00544 | Long-chain-3-hydroxyacyl-coa dehydrogenase deficiency (LCHAD) |
| smpdb | SMP00568 | Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) |
| smpdb | SMP00635 | Valproic Acid Metabolism Pathway |
| kegg | hsa00280 | Valine, leucine and isoleucine degradation - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| humancyc | FAO-PWY | fatty acid β-oxidation |
| humancyc | ILEUDEG-PWY | isoleucine degradation |
| humancyc | PWY66-391 | fatty acid β-oxidation (peroxisome) |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-6785470 | tRNA processing in the mitochondrion |
| reactome | R-HSA-6787450 | tRNA modification in the mitochondrion |
| reactome | R-HSA-70895 | Branched-chain amino acid catabolism |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| reactome | R-HSA-72306 | tRNA processing |
| reactome | R-HSA-72312 | rRNA processing |
| reactome | R-HSA-8868766 | rRNA processing in the mitochondrion |
| reactome | R-HSA-8953854 | Metabolism of RNA |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HSD17B10
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