INSIG1 Gene - Insulin Induced Gene 1
Key regulator of cholesterol and lipid metabolism
Gene Information Card
| Symbol | INSIG1 |
|---|---|
| Full Name | Insulin Induced Gene 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.3 |
| NCBI Gene ID | 3638 ncbi.nlm.nih.gov/gene/3638 |
| Ensembl ID | ENSG00000106462 |
| UniProt ID | O15503 |
| OMIM ID | 602055 |
| HGNC ID | 6083 |
| Aliases | CL-6, MGC1405 |
Description
INSIG1 encodes a protein that resides in the endoplasmic reticulum and plays a critical role in cholesterol homeostasis by blocking the processing of sterol regulatory element-binding proteins (SREBPs). It binds to the SREBP cleavage-activating protein (SCAP) in a sterol-dependent manner, preventing SREBP activation and subsequent lipogenic gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypercholesterolemia, familial | Impaired INSIG1 function leads to dysregulated SREBP activation and elevated cholesterol synthesis | OMIM #602055 |
| Lipodystrophy | Altered lipid storage and metabolism due to INSIG1 mutations | NCBI Gene |
| Insulin resistance | Dysregulation of INSIG1 contributes to metabolic syndrome | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adipose tissue | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Brain | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte model |
| 3T3-L1 | 9.8 | Adipocyte model |
| HeLa | 4.5 | Cervical cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341C>T (p.Pro114Leu) | Missense | Rare | Altered SCAP binding |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Reduced protein stability |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair INSIG1 binding to SCAP or reduce protein stability lead to constitutive SREBP activation and increased cholesterol synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Regulation of lipid metabolism by SREBP (KEGG: hsa04931)
Protein Summary
INSIG1 is a 277-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains six transmembrane domains and a conserved SCAP-binding region. The protein undergoes sterol-regulated ubiquitination and degradation, allowing dynamic control of SREBP processing and lipid synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSIG1 Knockout HEK293 Cell Line | EDJ-KQ4999 | Human | 3638 | Details Get a Quote |
| INSIG1 Knockout A-549 Cell Line | EDJ-KQ27898 | Human | 3638 | Details Get a Quote |
| INSIG1 Knockout HCT 116 Cell Line | EDJ-KQ27899 | Human | 3638 | Details Get a Quote |
| INSIG1 Knockout HeLa Cell Line | EDJ-KQ27900 | Human | 3638 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
