IGF1 (Insulin Like Growth Factor 1)
Key regulator of growth, development, and metabolism; implicated in growth disorders and cancer.
Gene Information Card
| Symbol | IGF1 |
|---|---|
| Full Name | Insulin Like Growth Factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.2 |
| NCBI Gene ID | 3479 ncbi.nlm.nih.gov/gene/3479 |
| Ensembl ID | ENSG00000017427 |
| UniProt ID | P05019 |
| OMIM ID | 147440 |
| HGNC ID | 5464 |
| Aliases | IGF-I, IGF1A, IGF1B, MGF, somatomedin C |
Description
The IGF1 gene encodes insulin-like growth factor 1, a hormone structurally similar to insulin. It is primarily produced in the liver in response to growth hormone (GH) and mediates many of the growth-promoting effects of GH. IGF1 plays critical roles in cell proliferation, differentiation, survival, and metabolism. Dysregulation of IGF1 is associated with growth disorders (e.g., Laron syndrome, acromegaly), aging, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| IGF1 deficiency (growth retardation) | Homozygous or compound heterozygous mutations in IGF1 lead to reduced or absent IGF1 protein, impairing GH-mediated growth. | OMIM #608732; ClinVar pathogenic variants |
| Laron syndrome (GH insensitivity) | Secondary IGF1 deficiency due to GH receptor defects; IGF1 levels are low despite high GH. | OMIM #262500; ClinVar |
| Acromegaly | Excess GH leads to elevated IGF1, causing tissue overgrowth and metabolic complications. | OMIM #102200; ClinVar |
| Colorectal cancer | Elevated circulating IGF1 levels are associated with increased risk; IGF1R signaling promotes tumor growth. | COSMIC; multiple studies |
| Prostate cancer | IGF1 polymorphisms and high serum levels linked to increased risk and progression. | COSMIC; ClinVar |
| Breast cancer | IGF1 signaling via IGF1R enhances proliferation and survival of malignant cells. | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 29.8 | High |
| Kidney | 8.2 | Medium |
| Lung | 4.5 | Low |
| Brain | 2.1 | Low |
| Heart | 1.9 | Low |
| Skeletal Muscle | 1.5 | Low |
| Adipose Tissue | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 12.3 | Hepatocellular carcinoma cell line |
| MCF7 (breast) | 6.7 | Breast adenocarcinoma cell line |
| A549 (lung) | 3.1 | Lung carcinoma cell line |
| PC3 (prostate) | 2.5 | Prostate adenocarcinoma cell line |
| HEK293 (embryonic kidney) | 1.8 | Transformed embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274C>T (p.Arg92Cys) | Missense | Rare | Reduced IGF1 receptor binding affinity; associated with growth retardation |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; severe IGF1 deficiency |
| c.401_402del (p.Glu134Glyfs*5) | Frameshift | Rare | Premature truncation; loss of function |
| c.1018G>A (p.Gly340Ser) | Missense | Rare | Impaired secretion; partial deficiency |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish IGF1 production or receptor binding (e.g., start loss, frameshift, missense affecting binding) lead to IGF1 deficiency and growth failure.
Gain of Function (GOF)
No well-characterized gain-of-function mutations in IGF1; elevated levels are typically due to upstream GH excess or gene amplification in tumors.
Dominant Negative (DN)
Not reported for IGF1; the gene is not known to exhibit dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005179 – hormone activity | • GO:0008083 – growth factor activity |
| • GO:0005158 – insulin-like growth factor receptor binding | • GO:0005576 – extracellular region |
| • GO:0005615 – extracellular space | • GO:0043565 – sequence-specific DNA binding |
| • GO:0008284 – positive regulation of cell population proliferation | • GO:0040014 – regulation of multicellular organism growth |
| • GO:0006006 – glucose metabolic process | • GO:0006915 – apoptotic process |
Pathways
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• MAPK signaling pathway (KEGG: hsa04010)
• Growth hormone synthesis
• secretion and action (KEGG: hsa04935)
• Insulin signaling pathway (KEGG: hsa04910)
• FoxO signaling pathway (KEGG: hsa04068)
• mTOR signaling pathway (KEGG: hsa04150)
Protein Summary
IGF1 is a 70-amino acid single-chain polypeptide (7.6 kDa) with structural homology to insulin. It is synthesized as a preprohormone and processed to mature IGF1. The protein contains four domains (B, C, A, D) and three disulfide bonds. IGF1 binds primarily to IGF1 receptor (IGF1R) with high affinity, activating downstream PI3K/Akt and MAPK/ERK pathways. It circulates bound to IGF-binding proteins (IGFBPs), which modulate its bioavailability. Post-translational modifications include proteolytic processing and glycosylation at specific isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGF1R Knockout HEK293 Cell Line | EDC90491 | Human | 3480 | Details Get a Quote |
| IGF1 Knockout HEK293 Cell Line | EDC07567 | Human | 3479 | 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 |
| IGF1 Knockout HeLa Cell Line | EDJ-KQ18508 | Human | 3479 | Details Get a Quote |
| IGF1 Knockout A-549 Cell Line | EDJ-KQ62093 | Human | 3479 | Details Get a Quote |
| IGF1 Knockout HCT 116 Cell Line | EDJ-KQ70577 | Human | 3479 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
