MSMO1 Gene Summary [Human]
Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MSMO1 |
| Official Name | methylsterol monooxygenase 1 [Source:HGNC Symbol;Acc:HGNC:10545] |
| Ensembl ID | ENSG00000052802 |
| Bio databases IDs | |
| Aliases | methylsterol monooxygenase 1 |
| Synonyms | 1500001G16Rik, C-4 Sterol Methyl Oxidase, CHOLESTEROL C4 METHYL OXIDASE, DESP4, ERG25, MCCPD, methylsterol monooxygenase 1, methylsterol monoxygenase 1, Ranp1, SC4MOL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MSMO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fatty acid hydroxylase
- C-4 methyl sterol oxidase
- methylsterol monooxygenase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetes mellitus
- preeclampsia
- microcephaly, congenital cataracts, and psoriasiform dermatitis
- chronic lymphocytic leukemia
- hereditary disorder
- experimental autoimmune encephalomyelitis
- idiopathic scoliosis
- Alzheimer disease
regulates
- fatty acid
- cholesterol
- steroid
role in cell
- growth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSMO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cholesterol biosynthetic process
- steroid metabolic process
- sterol biosynthetic process
- fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- C-4 methylsterol oxidase activity
- protein binding
- iron ion binding