INSIG1 Gene Summary [Human]
This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | INSIG1 |
| Official Name | insulin induced gene 1 [Source:HGNC Symbol;Acc:HGNC:6083] |
| Ensembl ID | ENSG00000186480 |
| Bio databases IDs | |
| Aliases | insulin induced gene 1, INSIG-1 membrane protein |
| Synonyms | 1810013C12Rik, CL-6, Cl6a, IIG1, insulin induced gene 1, Insulin-induced growth response protein cl-6, INSULIN INDUCED protein 1, LOC64194 |
| 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 INSIG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- oxysterol binding
- Insulin-induced protein (INSIG)
- protein binding
Pathways
Biological processes and signaling networks where the INSIG1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- neoplasia
- colon epithelial cancer
- Huntington disease
- organismal death
- metastasis
- cleft palate syndrome
- gastric adenocarcinoma
- gastric epithelial cancer
- celiac disease
role in cell
- expression in
- differentiation
- invasion by
- proliferation
- migration
- activation in
- cell viability
- production in
- degradation in
- abnormal morphology
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
- detergent-soluble membrane fractions
- membrane fraction
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human INSIG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cranial suture morphogenesis
- negative regulation of fatty acid biosynthetic process
- palate development
- cholesterol biosynthetic process
- negative regulation of fat cell differentiation
- triglyceride metabolic process
- middle ear morphogenesis
- cholesterol homeostasis
- cellular response to insulin stimulus
- SREBP-mediated signaling pathway
- inner ear morphogenesis
- negative regulation of protein exit from endoplasmic reticulum
- negative regulation of steroid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- SREBP-SCAP-Insig complex
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- oxysterol binding