Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on curation of immunofluorescence data
Gene Ontology annotation based on curation of intracellular localizations of expressed fusion proteins in living cells
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic Gene Ontology annotation based on Rhea mapping
Combined Automated Annotation using Multiple IEA Methods
The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
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Nsdhl encodes an NAD(P)H steroid dehydrogenase-like protein; sterol profiling of affected Bpa mice supports a role for Nsdhl in cholesterol biosynthesis, and this locus is the first mammalian X-linked dominant male-lethal locus.
"Quantitative analysis of sterols from tissues of affected Bpa mice support a role for Nsdhl in cholesterol biosynthesis"
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
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NSDHL encodes a 3-beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway; mutations cause CHILD syndrome (X-linked dominant, male-lethal).
"encoding a 3beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway"
Identification of major proteins in the lipid droplet-enriched fraction isolated from the human hepatocyte cell line HuH7.
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Proteomic identification of lipid-droplet-associated proteins in human HuH7 hepatocytes; used as IDA support for NSDHL lipid-droplet localization.
"a fraction enriched with lipid droplets was isolated"
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
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NSDHL encodes an enzyme in the cholesterol biosynthesis pathway; temperature-sensitive hypomorphic alleles cause CK syndrome, and the study characterized NSDHL subcellular (ER membrane) location.
"encodes an enzyme in the cholesterol biosynthesis pathway"
Human lysophosphatidylcholine acyltransferases 1 and 2 are located in lipid droplets where they catalyze the formation of phosphatidylcholine.
A reference map of the human binary protein interactome.
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HuRI systematic yeast-two-hybrid binary interactome; source of a bare 'protein binding' IPI for NSDHL (partner RHBDD1) that is uninformative about molecular function.
"reference interactome map of human binary protein interactions, or 'HuRI'"
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
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Interactome-mapping study; source of a bare 'protein binding' IPI for NSDHL (partner ATXN1) that does not describe a specific molecular function.
"Interactome maps are valuable resources to elucidate protein function"
4-methyl,4-carboxycholesta-8(9),24-dien-3beta-ol is decarboxylated and oxidized to form 4-methylcholesta-8(9),24-dien-3-one
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NSDHL catalyzes this ER decarboxylation/oxidation step of cholesterol biosynthesis.
"This reaction occurs in the endoplasmic reticulum, catalyzed by NSDHL"
4-carboxycholesta-8(9),24-dien-3beta-ol is decarboxylated and oxidized to form cholesta-8(9),24-dien-3-one (zymosterone)
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NSDHL catalyzes this ER decarboxylation/oxidation step producing zymosterone.
"This reaction occurs in the endoplasmic reticulum, catalyzed by NSDHL"
Cholesterol biosynthesis via desmosterol (Bloch pathway)
Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)
NSDHL decarboxylates 4a-carboxy-5a-cholest-8-ene-3b-ol to 5a-cholest-8-en-3-one
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NSDHL, in the ER membrane, decarboxylates 4alpha-carboxy-5alpha-cholest-8-ene-3beta-ol to 5alpha-cholest-8-en-3-one.
"in the endoplasmic reticulum membrane, decarboxylates"
NSDHL decarboxylates 4a-carboxy-4b-methyl-5a-cholest-8-en-3b-ol to 4a-methyl-5a-cholest-8-en-3b-ol
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NSDHL, in the ER membrane, decarboxylates 4a-carboxy-4b-methyl-5a-cholest-8-en-3b-ol to 4a-methyl-5a-cholest-8-en-3b-ol.
"in the endoplasmic reticulum membrane, decarboxylates"
UniProtKB entry Q15738 (NSDHL_HUMAN), Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
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UniProt describes NSDHL as catalyzing the NAD(P)+-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis, localized to the ER membrane (single-pass) and lipid droplet.
"Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis"