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Description for Protein HSD17B10

hydroxysteroid (17-beta) dehydrogenase 10
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/1)
(alpha granules: 1; platelet: 6; secretome: 2)
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, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.1.1.178; 1.1.1.35
KEGG - Orthology:
K08683
KEGG - Pathway(s):
hsa00280; hsa01100; hsa05010
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
ERAB; MHBD; SCHAD; HSD-10; XH98G2; Type II HADH; Amyloid beta binding polypeptide ERAB; 17beta-hydroxysteroid dehydrogenase type 10; 2-Methyl 3 hydroxybutyryl-CoA dehydrogenase; Short chain L-3-hydroxyacyl-CoA dehydrogenase; Short-chain type dehydrogenase/reductase XH98G2; Endoplasmic reticulum-associated amyloid beta-peptide binding protein; Hydroxysteroid (17-beta) dehydrogenase 10 isoform 2
Approved Symbol:
HSD17B10
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • 1-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone Adduct(db);
  • NADH(db);
  • Nicotinamide-Adenine-Dinucleotide(db)

    Associated Genetic Diseases:

  • 2-@methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency(Pd);
  • Mental retardation, X-linked, syndromic 10(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02223 Entrez Gene ID: 3028 OMIM ID: 300256 Swissprot Accession: Q99714; Q6IBS9;