ORMDL3 Gene Summary [Human]
Involved in ceramide metabolic process. Acts upstream of or within several processes, including negative regulation of B cell apoptotic process; negative regulation of ceramide biosynthetic process; and positive regulation of protein localization to nucleus. Located in endoplasmic reticulum. Part of SPOTS complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ORMDL3 |
| Official Name | ORMDL sphingolipid biosynthesis regulator 3 [Source:HGNC Symbol;Acc:HGNC:16038] |
| Ensembl ID | ENSG00000172057 |
| Bio databases IDs | |
| Aliases | ORMDL sphingolipid biosynthesis regulator 3 |
| Synonyms | 2810011N17Rik, LRRGT00183, ORM1-like 3 (S. cerevisiae), ORMDL sphingolipid biosynthesis regulator 3 |
| 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 ORMDL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- ORMDL family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cardiovascular disorder
- atopic dermatitis
- asthma
- peribronchial fibrosis
- systemic lupus erythematosus
- cervical cancer
- lupus erythematosus
- Crohn disease
- airway hyperresponsiveness
role in cell
- activation in
- phosphorylation in
- expression in
- apoptosis
- degranulation
- number
- quantity
- synthesis in
- inhibition in
- production in
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
- secretory granule membrane
- specific granule membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ORMDL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of protein localization to nucleus
- negative regulation of ceramide biosynthetic process
- positive regulation of autophagy
- cellular sphingolipid homeostasis
- negative regulation of B cell apoptotic process
- myelination
- ceramide metabolic process
- sphingomyelin biosynthetic process
- regulation of smooth muscle contraction
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- secretory granule membrane
- endoplasmic reticulum
- serine C-palmitoyltransferase complex
- plasma membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- protein binding