TIE1: Tyrosine Kinase with Immunoglobulin and EGF Factor Homology Domains 1
A key receptor tyrosine kinase in angiogenesis and vascular development
Gene Information Card
| Symbol | TIE1 |
|---|---|
| Full Name | Tyrosine Kinase with Immunoglobulin and EGF Factor Homology Domains 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 7075 ncbi.nlm.nih.gov/gene/7075 |
| Ensembl ID | ENSG00000166049 |
| UniProt ID | P35590 |
| OMIM ID | 600222 |
| HGNC ID | 11809 |
| Aliases | TIE, JTK14, TIE-1 |
Description
TIE1 encodes a receptor tyrosine kinase essential for angiogenesis and vascular development. It is expressed primarily in endothelial cells and plays a critical role in blood vessel maturation, stability, and remodeling. TIE1 interacts with angiopoietins (ANGPT1, ANGPT2) and modulates signaling through the TIE2 receptor. Mutations and altered expression of TIE1 are implicated in vascular malformations and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary hemorrhagic telangiectasia (HHT) | Loss-of-function mutations impair endothelial cell signaling, leading to vascular fragility and telangiectasias. | ClinVar; OMIM |
| Venous malformations | Somatic mutations in TIE1 disrupt angiopoietin signaling, causing abnormal venous development. | COSMIC; ClinVar |
| Cancer (multiple types) | Overexpression or mutations promote tumor angiogenesis and metastasis. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Placenta | 8.9 | Medium |
| Brain | 3.1 | Low |
| Liver | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.8 | High expression; model for angiogenesis studies |
| HMEC-1 (microvascular endothelial) | 14.2 | High expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2113C>T (p.Arg705Cys) | Missense | <0.1% | Loss of function; associated with HHT |
| c.2746G>A (p.Gly916Arg) | Missense | <0.1% | Gain of function; reported in venous malformations |
| c.1234_1235insA | Frameshift | <0.1% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce kinase activity or protein stability, leading to vascular malformations.
Gain of Function (GOF)
Missense mutations that enhance receptor activation or downstream signaling, associated with venous malformations.
Dominant Negative (DN)
Not well documented for TIE1; most mutations are heterozygous with incomplete penetrance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Angiopoietin-TIE signaling pathway (Reactome: R-HSA-210993)
• VEGF-VEGFR signaling pathway (Reactome: R-HSA-194138)
• Endothelial cell migration and tube formation (KEGG: hsa04510)
Protein Summary
TIE1 is a 1138-amino acid transmembrane receptor tyrosine kinase with extracellular immunoglobulin-like and EGF-like domains. It is predominantly expressed on endothelial cells and binds angiopoietins (ANGPT1, ANGPT2) to regulate vascular stability and remodeling. TIE1 modulates TIE2 signaling and is critical for angiogenesis. Mutations in TIE1 cause hereditary hemorrhagic telangiectasia and venous malformations, while altered expression is linked to tumor angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIE1 Knockout HEK293 Cell Line | EDJ-KQ5932 | Human | 7075 | Details Get a Quote |
| TIE1 Knockout HeLa Cell Line | EDJ-KQ54660 | Human | 7075 | Details Get a Quote |
| TIE1 Knockout A-549 Cell Line | EDJ-KQ63141 | Human | 7075 | Details Get a Quote |
| TIE1 Knockout HCT 116 Cell Line | EDJ-KQ71614 | Human | 7075 | Details Get a Quote |
