IGF1R (Insulin Like Growth Factor 1 Receptor)
Key mediator of growth hormone signaling, frequently altered in cancer and growth disorders.
Gene Information Card
| Symbol | IGF1R |
|---|---|
| Full Name | Insulin Like Growth Factor 1 Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 3480 ncbi.nlm.nih.gov/gene/3480 |
| Ensembl ID | ENSG00000140443 |
| UniProt ID | P08069 |
| OMIM ID | 147370 |
| HGNC ID | 5465 |
| Aliases | IGFIR, JTK13, MGC142170, MGC142172, CD221 |
Description
The IGF1R gene encodes the insulin-like growth factor 1 receptor, a transmembrane tyrosine kinase receptor that binds IGF1 with high affinity. Upon ligand binding, the receptor undergoes autophosphorylation and activates downstream signaling pathways including PI3K/AKT and MAPK/ERK, promoting cell growth, survival, and differentiation. IGF1R is essential for normal development and is frequently overexpressed or mutated in various cancers, contributing to oncogenic transformation and resistance to therapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Insulin-like growth factor I resistance | Loss-of-function mutations in IGF1R impair IGF1 binding or kinase activity, leading to growth retardation and intrauterine growth restriction. | OMIM #147370 |
| Colorectal cancer | IGF1R overexpression and activation promote proliferation and metastasis via PI3K/AKT signaling. | COSMIC; PMID: 25686134 |
| Breast cancer | IGF1R amplification and constitutive activation drive tumor growth and endocrine therapy resistance. | COSMIC; PMID: 27573504 |
| Non-small cell lung cancer | IGF1R gene amplification and mutations contribute to oncogenic signaling and poor prognosis. | COSMIC; PMID: 23348582 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Lung | 4.1 | Low |
| Breast | 3.8 | Low |
| Brain | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.5 | High expression; associated with hormone receptor status |
| A549 (lung cancer) | 9.8 | Moderate expression; linked to proliferation |
| HepG2 (liver cancer) | 7.3 | Moderate expression; involved in growth signaling |
| HEK293 (embryonic kidney) | 5.1 | Low expression; used for recombinant studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R108Q | Missense | <1% | Reduced IGF1 binding affinity; associated with growth delay |
| G1125E | Missense | <1% | Impaired kinase activity; dominant negative effect |
| A137V | Missense | <1% | Altered receptor dimerization; loss of function |
| E1050K | Missense | <1% | Gain-of-function; increased autophosphorylation; found in cancer |
Mutation functional classification
Loss of Function (LOF)
Mutations such as R108Q and G1125E impair ligand binding or kinase activity, leading to growth retardation and insulin-like growth factor I resistance.
Gain of Function (GOF)
Mutations like E1050K enhance receptor autophosphorylation and downstream signaling, contributing to oncogenic transformation.
Dominant Negative (DN)
Mutations such as G1125E produce a receptor that dimerizes with wild-type but lacks kinase activity, suppressing normal signaling.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004714 - transmembrane receptor protein tyrosine kinase activity | • GO:0005524 - ATP binding |
| • GO:0005158 - insulin-like growth factor I binding | • GO:0043560 - insulin receptor substrate binding |
| • GO:0008284 - positive regulation of cell population proliferation | • GO:0046777 - protein autophosphorylation |
| • GO:0007169 - transmembrane receptor protein tyrosine kinase signaling pathway |
Pathways
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Ras signaling pathway (KEGG: hsa04014)
• MAPK signaling pathway (KEGG: hsa04010)
• Proteoglycans in cancer (KEGG: hsa05205)
• EGFR tyrosine kinase inhibitor resistance (KEGG: hsa01521)
Protein Summary
The insulin-like growth factor 1 receptor (IGF1R) is a heterotetrameric transmembrane glycoprotein composed of two alpha and two beta subunits. The extracellular alpha subunits contain the ligand-binding domain, while the beta subunits harbor the intracellular tyrosine kinase domain. Upon binding of IGF1, the receptor undergoes conformational changes, autophosphorylation, and activation of downstream signaling cascades that regulate cell growth, survival, and metabolism. IGF1R is a key therapeutic target in oncology, with several monoclonal antibodies and tyrosine kinase inhibitors in clinical development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGF1R Knockout HEK293 Cell Line | EDC90491 | Human | 3480 | Details Get a Quote |
| IGF1R Knockout A-549 Cell Line | EDC07941 | Human | 3480 | Details Get a Quote |
| IGF1R Knockout HCT 116 Cell Line | EDJ-KQ19210 | Human | 3480 | Details Get a Quote |
| IGF1R Knockout HeLa Cell Line | EDJ-KQ18359 | Human | 3480 | Details Get a Quote |
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