Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Combined Automated Annotation using Multiple IEA Methods
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
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SC4MOL/MSMO1 encodes a sterol-C4-methyl oxidase that catalyzes demethylation of C4-methylsterols in the cholesterol synthesis pathway; loss-of-function mutations cause an autosomal recessive syndrome with psoriasiform dermatitis, microcephaly, and developmental delay, with methylsterol accumulation.
"This gene encodes a sterol-C4-methyl oxidase (SMO), which catalyzes demethylation of C4-methylsterols in the cholesterol synthesis pathway."
A reference map of the human binary protein interactome.
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MSMO1 protein-protein interactions are reported from the genome-scale HuRI binary interactome map; the individual partners are high-throughput hits rather than characterized functional complexes.
"reference interactome map of human binary protein interactions, or 'HuRI'"
Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue.
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The human MSMO1 gene was identified as a homologue of yeast ERG25 (methyl sterol oxidase); the protein is membrane bound and immunofluorescence placed it in the endoplasmic reticulum (and plasma membrane).
"the cloned gene was identical to ERG25, a gene that codes for"
4,4-dimethylcholesta-8(9),24-dien-3beta-ol is oxidized to 4-methyl,4-carboxycholesta-8(9),24-dien-3beta-ol
4-methylcholesta-8(9),24-dien-3beta-ol is oxidized to 4-carboxycholesta-8(9),24-dien-3beta-ol
Cholesterol biosynthesis via desmosterol (Bloch pathway)
Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)
MSMO1 oxidizes 4,4-diMe-5-cholest-8-en-3-ol to 4a-carboxy-4b-me-5a-cholest-8-en-3b-ol
MSMO1 oxidizes 4a-me-5a-cholest-8-en-3b-ol to 4a-carboxy-5a-cholest-8-ene-3b-ol
UniProtKB Q15800 (MSMO1_HUMAN) curated record