• Gene id: 3028

Gene Summary

• Gene Symbol: HSD17B10   Gene   UCSC   Ensembl
• Aliases: 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, HSD10MD, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1
• Gene name: hydroxysteroid 17-beta dehydrogenase 10
• Alternate names: 3-hydroxyacyl-CoA dehydrogenase type-2, 3-hydroxy-2-methylbutyryl-CoA dehydrogenase, AB-binding alcohol dehydrogenase, amyloid-beta peptide binding alcohol dehydrogenase, endoplasmic reticulum-associated amyloid beta-peptide-binding protein, mitochondrial RNas,
• Gene location: Xp11.22 (53434375: 53431257)     Exons: 6     NC_000023.11
• Gene summary(Entrez): 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 su
• OMIM: 604153

Protein Summary

• Protein general information: Q99714  
  • Name: 3 hydroxyacyl CoA dehydrogenase type 2 (EC 1.1.1.35) (17 beta hydroxysteroid dehydrogenase 10) (17 beta HSD 10) (EC 1.1.1.51) (2 methyl 3 hydroxybutyryl CoA dehydrogenase) (MHBD) (3 hydroxy 2 methylbutyryl CoA dehydrogenase) (EC 1.1.1.178) (3 hydroxyacyl
  • Length: 261  
  • Mass: 26923
  • Tissue specificity: Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD. {ECO
• Sequence:

  MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKDVQTAL
  ALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVI
  INTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPLLTSLPEKVCNFLASQVPFPS
  RLGDPAEYAHLVQAIIENPFLNGEVIRLDGAIRMQP

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • PDB: 1F67 1SO8 1U7T 2O23
  • PDBsum: 1F67 1SO8 1U7T 2O23
  • STRING: ENSP00000168216
• Other Databases: GeneCards:  HSD17B10  Malacards:  HSD17B10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000049	tRNA binding	IDA	molecular function
GO:0097745	mitochondrial tRNA 5'-end processing	IDA	biological process
GO:0030678	mitochondrial ribonuclease P complex	IDA	cellular component
GO:0097745	mitochondrial tRNA 5'-end processing	IDA	biological process
GO:0030678	mitochondrial ribonuclease P complex	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0097745	mitochondrial tRNA 5'-end processing	IDA	biological process
GO:0097745	mitochondrial tRNA 5'-end processing	IDA	biological process
GO:1990180	mitochondrial tRNA 3'-end processing	IDA	biological process
GO:0070901	mitochondrial tRNA methylation	IDA	biological process
GO:0030283	testosterone dehydrogenase [NAD(P)] activity	IDA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0070901	mitochondrial tRNA methylation	IDA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0007005	mitochondrion organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008709	cholate 7-alpha-dehydrogenase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0047015	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity	IEA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0035410	dihydrotestosterone 17-beta-dehydrogenase activity	IEA	molecular function
GO:0030283	testosterone dehydrogenase [NAD(P)] activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0070901	mitochondrial tRNA methylation	TAS	biological process
GO:0070901	mitochondrial tRNA methylation	TAS	biological process
GO:0090646	mitochondrial tRNA processing	TAS	biological process
GO:0090646	mitochondrial tRNA processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0030678	mitochondrial ribonuclease P complex	TAS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005739	mitochondrion	ISS	cellular component
GO:0000049	tRNA binding	IDA	molecular function
GO:0097745	mitochondrial tRNA 5'-end processing	IDA	biological process
GO:0030678	mitochondrial ribonuclease P complex	IDA	cellular component
GO:0097745	mitochondrial tRNA 5'-end processing	IDA	biological process
GO:0030678	mitochondrial ribonuclease P complex	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0097745	mitochondrial tRNA 5'-end processing	IDA	biological process
GO:0097745	mitochondrial tRNA 5'-end processing	IDA	biological process
GO:1990180	mitochondrial tRNA 3'-end processing	IDA	biological process
GO:0070901	mitochondrial tRNA methylation	IDA	biological process
GO:0030283	testosterone dehydrogenase [NAD(P)] activity	IDA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0070901	mitochondrial tRNA methylation	IDA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0007005	mitochondrion organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008709	cholate 7-alpha-dehydrogenase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0047015	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity	IEA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0035410	dihydrotestosterone 17-beta-dehydrogenase activity	IEA	molecular function
GO:0030283	testosterone dehydrogenase [NAD(P)] activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0070901	mitochondrial tRNA methylation	TAS	biological process
GO:0070901	mitochondrial tRNA methylation	TAS	biological process
GO:0090646	mitochondrial tRNA processing	TAS	biological process
GO:0090646	mitochondrial tRNA processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0030678	mitochondrial ribonuclease P complex	TAS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005739	mitochondrion	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa00280	Valine, leucine and isoleucine degradation

Diseases

Associated diseases	References
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase	KEGG:H00925
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase	KEGG:H00925
Pheochromocytoma	PMID:25879199
Alzheimer's disease	PMID:9338779
Osteosarcoma	PMID:19449377
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881