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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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INSIG1
insulin induced gene 1
Chromosome 7 · 7q36.3
NCBI Gene: 3638Ensembl: ENSG00000186480.13HGNC: HGNC:6083UniProt: A4D2M9
93PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingoxysterol bindingprotein sequestering activitynegative regulation of cargo loading into COPII-coated vesicleneurodegenerative diseaseneurotic disorderhyperlipidemiaalcohol drinking
✦AI Summary

INSIG1 is an oxysterol-binding protein that serves as a critical negative regulator of cholesterol biosynthesis 1. Its primary function involves controlling the SREBP (sterol regulatory element-binding protein) signaling pathway through two key mechanisms: (1) retention of the SCAP-SREBP complex in the endoplasmic reticulum when bound to oxysterols like 25-hydroxycholesterol, preventing SREBP activation 1; and (2) mediating ubiquitin-dependent degradation of HMGCR, the rate-limiting enzyme in cholesterol synthesis 2. INSIG1 function is dynamically regulated—sterol depletion or phosphorylation by PCK1 and PKR reduces oxysterol binding, disrupting INSIG1-SCAP interaction and enabling SREBP translocation to the Golgi for activation 13. Disease relevance is substantial across multiple conditions. In hepatocellular carcinoma, PCK1-mediated phosphorylation of INSIG1 drives lipogenesis and tumorigenesis, with phosphorylation levels correlating with poor prognosis 1. In metabolic dysfunction-associated steatohepatitis (MASH), TRIM25-mediated ubiquitination and degradation of INSIG1 promotes lipid accumulation and inflammation 2. In colorectal cancer, a circular RNA-encoded protein promotes INSIG1 degradation to enhance cholesterol biosynthesis 4. Additionally, tumor-derived exosomal microRNAs suppress INSIG1 expression to facilitate breast cancer liver metastasis 5, while in diabetic kidney disease, reduced HSPA8 allows PKR-mediated INSIG1 phosphorylation, driving SREBP activation and lipid accumulation 3. Notably, common genetic variations in INSIG1 show no significant association with type 2 diabetes or obesity in European populations 6.

Sources cited
1
INSIG1 binds oxysterols and retains SCAP-SREBP complex in ER; PCK1 phosphorylation of INSIG1 at Ser207 disrupts this interaction and drives lipogenesis and HCC tumorigenesis with prognostic significance
PMID: 32322062
2
TRIM25-mediated ubiquitination and degradation of INSIG1 promotes lipid accumulation and SREBP2 activation in MASH progression
PMID: 40231613
3
CircINSIG1-encoded protein recruits CUL5-ASB6 complex to ubiquitinate INSIG1, promoting cholesterol biosynthesis in colorectal cancer
PMID: 37087475
4
Breast cancer-derived exosomal miR-9-5p targets INSIG1 to induce HMGCR expression and promote liver metastasis
PMID: 39627188
5
HSPA8 prevents PKR-mediated phosphorylation of INSIG1/2, maintaining their interaction with SCAP and suppressing SREBP activation in diabetic kidney disease
PMID: 39977267
6
Common INSIG1 genetic variations show no significant association with type 2 diabetes, obesity, or related metabolic traits in white European populations
PMID: 20444954
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
neurotic disorderOpen Targets
0.28Weak
hyperlipidemiaOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.16Weak
lacrimal apparatus diseaseOpen Targets
0.13Weak
ovarian dysfunctionOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
renal fibrosisOpen Targets
0.08Suggestive
psoriasisOpen Targets
0.08Suggestive
viral pneumoniaOpen Targets
0.06Suggestive
chronic kidney diseaseOpen Targets
0.06Suggestive
obesityOpen Targets
0.06Suggestive
non-alcoholic steatohepatitisOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.03Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FASNProtein interaction100%VCPProtein interaction100%SQLEProtein interaction100%HSD17B7Protein interaction100%MSMO1Protein interaction100%AMFRProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Brain
16%
Bone Marrow
12%
Lung
9%
Heart
5%
Ovary
4%
Gene Interaction Network
Click a node to explore
INSIG1FASNVCPSQLEHSD17B7MSMO1AMFR
PROTEIN STRUCTURE
Preparing viewer…
PDB4J81 · 1.74 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.40–1.02]
RankingsWhere INSIG1 stands among ~20K protein-coding genes
  • #5,145of 20,598
    Most Researched93 · top quartile
  • #9,962of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedINSIG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis.
PMID: 32322062
Nature · 2020
1.00
2
TRIM25-Mediated INSIG1 Ubiquitination Promotes MASH Progression Through Reprogramming Lipid Metabolism.
PMID: 40231613
Adv Sci (Weinh) · 2025
0.90
3
Discovery of a potent SCAP degrader that ameliorates HFD-induced obesity, hyperlipidemia and insulin resistance via an autophagy-independent lysosomal pathway.
PMID: 32432943
Autophagy · 2021
0.80
4
Glucose-Mediated N-glycosylation of SCAP Is Essential for SREBP-1 Activation and Tumor Growth.
PMID: 26555173
Cancer Cell · 2015
0.70
5
No association between polymorphisms in the INSIG1 gene and the risk of type 2 diabetes and related traits.
PMID: 20444954
Am J Clin Nutr · 2010
0.60