IGFBP1: Insulin Like Growth Factor Binding Protein 1
Key regulator of IGF bioavailability in metabolic and growth disorders
Gene Information Card
| Symbol | IGFBP1 |
|---|---|
| Full Name | Insulin Like Growth Factor Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p12.3 |
| NCBI Gene ID | 3484 ncbi.nlm.nih.gov/gene/3484 |
| Ensembl ID | ENSG00000146678 |
| UniProt ID | P08833 |
| OMIM ID | 146730 |
| HGNC ID | 5469 |
| Aliases | IGF-BP25, IBP1, hIGFBP-1, AFBP, PP12, PL12 |
Description
IGFBP1 encodes a member of the insulin-like growth factor binding protein (IGFBP) family. This protein binds insulin-like growth factors (IGF-I and IGF-II) with high affinity, modulating their bioavailability and interaction with IGF receptors. IGFBP1 is primarily secreted by the liver and decidualized endometrium, and its expression is regulated by insulin, metabolic stress, and growth factors. It plays critical roles in fetal growth, glucose homeostasis, and cellular proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intrauterine growth restriction (IUGR) | Altered IGFBP1 levels impair IGF bioavailability, reducing fetal growth | PMID: 10770216 |
| Type 2 diabetes | Insulin resistance alters hepatic IGFBP1 secretion, contributing to metabolic dysregulation | PMID: 15677334 |
| Endometrial cancer | Dysregulated IGFBP1 expression in endometrium affects IGF signaling and tumor progression | PMID: 19137018 |
| Polycystic ovary syndrome (PCOS) | Reduced IGFBP1 levels increase free IGF-I, promoting hyperandrogenism | PMID: 10404808 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 124.3 | High |
| Endometrium | 45.6 | Medium |
| Kidney | 12.1 | Low |
| Adipose tissue | 8.5 | Low |
| Placenta | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 156.7 | Hepatocellular carcinoma cell line |
| HUVEC | 23.4 | Endothelial cells |
| MCF-7 | 5.1 | Breast cancer cell line |
| K562 | 2.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.5G>A (p.Gly2Asp) | Missense | <0.01% | Reduced IGF binding affinity |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Altered protein stability |
| c.358G>A (p.Gly120Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense variants that reduce IGF binding or protein stability (e.g., p.Gly2Asp) are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in IGFBP1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for IGFBP1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Insulin-like growth factor binding proteins (IGFBPs) modulate IGF signaling
• IGF1R signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
IGFBP1 is a 259-amino acid secreted protein (25.5 kDa) containing an N-terminal IGF-binding domain and a C-terminal thyroglobulin type-1 domain. It binds IGF-I and IGF-II with high affinity, thereby prolonging their half-life and modulating receptor activation. Phosphorylation of IGFBP1 (e.g., at Ser101, Ser119, Ser169) alters its affinity for IGFs and its susceptibility to proteolysis. The protein is heavily regulated at the transcriptional level by insulin, glucocorticoids, and hypoxia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGFBP1 Knockout HEK293 Cell Line | EDJ-KQ3865 | Human | 3484 | Details Get a Quote |
| IGFBP1 Knockout HeLa Cell Line | EDJ-KQ26061 | Human | 3484 | Details Get a Quote |
| IGFBP1 Knockout A-549 Cell Line | EDJ-KQ24704 | Human | 3484 | Details Get a Quote |
| IGFBP1 Knockout HCT 116 Cell Line | EDJ-KQ70580 | Human | 3484 | Details Get a Quote |
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