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Literature summary extracted from

  • Marijanovic, Z.; Laubner, D.; Moeller, G.; Gege, C.; Husen, B.; Adamski, J.; Breitling, R.
    Closing the gap: Identification of human 3-ketosteroid reductase, the last unknown enzyme of mammalian cholesterol biosynthesis (2003), Mol. Endocrinol., 17, 1715-1725.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.1.1.270 expression of HSD17B7 and truncated HSD17B7 (shortened by 127 amino acids at the C terminus) as glutathione-S-transferase fusion protein in Escherichia coli. Erg27p-deficient yeast strain complements the 3-ketosteroid reductase deficiency of the cells and restores growth on sterol-deficient medium Homo sapiens
1.1.1.270 expression of HSD17B7 as a glutathione-S-transferase fusion protein in Escherichia coli. Erg27p-deficient yeast strain complements the 3-ketosteroid reductase deficiency of the cells and restores growth on sterol-deficient medium Mus musculus

Protein Variants

EC Number Protein Variants Comment Organism
1.1.1.270 DELTA214-341 inactive mutant enzyme Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.1.1.270 endoplasmic reticulum
-
 Mus musculus 5783
-
1.1.1.270 endoplasmic reticulum
-
 Homo sapiens 5783
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.1.1.270 additional information Mus musculus HSD17B7 participates in postsqualene cholesterol biosynthesis ?
-
 ?
1.1.1.270 additional information Homo sapiens HSD17B7 participates in postsqualene cholesterol biosynthesis, HSD17B7 is a novel candidate for inborn errors of cholesterol metabolism ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.1.1.270 Homo sapiens
-
-
-
1.1.1.270 Mus musculus
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.1.1.270 embryo high expression levels in the ganglion of the trigeminal nerve and the dorsal root ganglia Mus musculus
-
1.1.1.270 ganglion of the trigeminal nerve, dorsal root ganglia, cranial ganglia Mus musculus
-
1.1.1.270 additional information specifically expressed in tissues that are involved in the pathogenesis of congenital cholesterol-deficiency disorders Mus musculus
-
1.1.1.270 neural tube
-
 Mus musculus
-
1.1.1.270 tail bud
-
 Mus musculus
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.1.1.270 additional information HSD17B7 participates in postsqualene cholesterol biosynthesis Mus musculus ?
-
 ?
1.1.1.270 additional information HSD17B7 participates in postsqualene cholesterol biosynthesis, HSD17B7 is a novel candidate for inborn errors of cholesterol metabolism Homo sapiens ?
-
 ?
1.1.1.270 zymosterone + NADPH
-
 Mus musculus zymosterol + NADP+
-
 ?
1.1.1.270 zymosterone + NADPH
-
 Homo sapiens zymosterol + NADP+
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.1.1.270 HSD17B7
-
 Mus musculus
1.1.1.270 HSD17B7
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.1.1.270 NADPH
-
 Mus musculus
1.1.1.270 NADPH
-
 Homo sapiens