FLT1 (VEGFR1): A Key Regulator of Angiogenesis and Disease
Comprehensive gene overview of FLT1, its expression, mutations, and clinical significance
Gene Information Card
| Symbol | FLT1 |
|---|---|
| Full Name | fms related receptor tyrosine kinase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 2321 ncbi.nlm.nih.gov/gene/2321 |
| Ensembl ID | ENSG00000102755 |
| UniProt ID | P17948 |
| OMIM ID | 165070 |
| HGNC ID | HGNC:3763 |
| Aliases | VEGFR1, FLT, VEGFR-1, FLT-1, fms-like tyrosine kinase 1 |
Description
FLT1 encodes fms-related receptor tyrosine kinase 1, also known as vascular endothelial growth factor receptor 1 (VEGFR1). This receptor binds vascular endothelial growth factors (VEGFs) with high affinity and plays a critical role in angiogenesis, vasculogenesis, and endothelial cell function. It exists in both membrane-bound and soluble isoforms, with the soluble form (sFlt1) acting as a decoy receptor to regulate VEGF signaling. FLT1 is essential for embryonic vascular development and is implicated in various diseases, including preeclampsia, cancer, and retinal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Preeclampsia | Elevated soluble FLT1 (sFlt1) in maternal circulation sequesters VEGF and PlGF, leading to endothelial dysfunction and hypertension. | ClinVar, OMIM |
| Cancer (various types) | FLT1 overexpression on tumor vasculature promotes angiogenesis; mutations may alter signaling. | COSMIC, NCBI |
| Age-related macular degeneration (AMD) | FLT1 expression in retinal pigment epithelium contributes to choroidal neovascularization. | UniProt, OMIM |
| Coronary artery disease | Genetic variants in FLT1 may influence vascular repair and inflammation. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 10.2 | Medium |
| Placenta | 8.5 | Medium |
| Kidney | 7.3 | Low |
| Liver | 4.1 | Low |
| Brain | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.3 | High expression; key for angiogenesis studies |
| A549 (lung carcinoma) | 3.2 | Low expression |
| MCF7 (breast cancer) | 1.1 | Very low |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1040C>T (p.Pro347Leu) | Missense | Rare | May affect ligand binding; reported in cancer |
| c.1567A>G (p.Thr523Ala) | Missense | Rare | Unknown significance; found in population databases |
| c.2455C>T (p.Arg819Trp) | Missense | Rare | Associated with preeclampsia in some studies |
| c.2860A>G (p.Thr954Ala) | Missense | Rare | Potential impact on kinase activity |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in FLT1 are rare; complete knockout is embryonic lethal in mice. Partial loss may impair angiogenesis and vascular repair.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression of FLT1 in tumors may enhance angiogenesis.
Dominant Negative (DN)
Soluble FLT1 (sFlt1) acts as a dominant-negative by sequestering VEGF, reducing signaling through other receptors.
View complete mutation data：
Gene Ontology (GO)
| • vascular endothelial growth factor binding | • transmembrane receptor protein tyrosine kinase activity |
| • protein tyrosine kinase activity | • ATP binding |
| • positive regulation of angiogenesis | • cell migration |
| • endothelial cell proliferation | • response to hypoxia |
Pathways
• VEGF signaling pathway
• Angiogenesis
• Focal adhesion
• Ras signaling
• PI3K-Akt signaling
Protein Summary
FLT1 (VEGFR1) is a type I membrane protein with an extracellular domain containing seven immunoglobulin-like domains, a single transmembrane region, and an intracellular tyrosine kinase domain. It binds VEGF-A, VEGF-B, and PlGF with high affinity. The membrane-bound form transduces signals that regulate endothelial cell survival, migration, and proliferation. The soluble isoform (sFlt1) lacks the transmembrane and intracellular domains and acts as a decoy receptor, inhibiting VEGF signaling. FLT1 is critical for vascular development and homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLT1 Knockout HEK293 Cell Line | EDJ-KQ17819 | Human | 2321 | Details Get a Quote |
| FLT1 Knockout HeLa Cell Line | EDJ-KQ53250 | Human | 2321 | Details Get a Quote |
| FLT1 Knockout A-549 Cell Line | EDJ-KQ61733 | Human | 2321 | Details Get a Quote |
| FLT1 Knockout HCT 116 Cell Line | EDJ-KQ70219 | Human | 2321 | Details Get a Quote |
| FLT1 (p.D1052N) Point Mutation in HAP1 Cell Line | EDC03494 | Human | 2321 | Details Get a Quote |
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