ANGPT1 (Angiopoietin 1) Gene
Key regulator of angiogenesis and vascular stability
Gene Information Card
| Symbol | ANGPT1 |
|---|---|
| Full Name | Angiopoietin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q23.1 |
| NCBI Gene ID | 284 ncbi.nlm.nih.gov/gene/284 |
| Ensembl ID | ENSG00000154188 |
| UniProt ID | Q15389 |
| OMIM ID | 601667 |
| HGNC ID | 484 |
| Aliases | ANG1, AGP1, AGPT1, KIAA0003 |
Description
ANGPT1 (Angiopoietin 1) is a protein-coding gene that plays a critical role in blood vessel formation and maturation. It encodes a secreted glycoprotein that acts as a ligand for the TEK tyrosine kinase receptor (Tie2) on endothelial cells. ANGPT1 promotes vascular quiescence, endothelial cell survival, and vessel stabilization by recruiting pericytes and smooth muscle cells. It is essential for embryonic angiogenesis and maintains adult vascular integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary angioedema (HAE) | Loss-of-function mutations in ANGPT1 impair Tie2 signaling, leading to increased vascular permeability and edema | ClinVar, OMIM |
| Diabetic retinopathy | Dysregulated ANGPT1 expression contributes to abnormal retinal angiogenesis | NCBI Gene, PubMed |
| Cancer (various) | Altered ANGPT1/Tie2 signaling in tumor vasculature promotes angiogenesis and metastasis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Heart | 18.7 | Medium |
| Lung | 12.3 | Medium |
| Liver | 3.1 | Low |
| Skeletal muscle | 8.9 | Medium |
| Kidney | 6.4 | Low |
| Placenta | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.4 | High expression; key for angiogenesis studies |
| HEK 293 | 2.1 | Low endogenous expression |
| HeLa | 1.8 | Low expression |
| A549 (lung carcinoma) | 4.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.614G>A (p.Arg205Gln) | Missense | Rare | Loss of function; associated with hereditary angioedema |
| c.1078C>T (p.Arg360Trp) | Missense | Rare | Impaired secretion and Tie2 binding |
| c.1240G>A (p.Gly414Arg) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg205Gln, p.Arg360Trp) reduce ANGPT1 secretion, Tie2 binding, or stability, leading to vascular leakage and hereditary angioedema.
Gain of Function (GOF)
Not well documented in ANGPT1; gain-of-function variants are rare and not clinically established.
Dominant Negative (DN)
Some ANGPT1 mutations may exert dominant-negative effects by forming non-functional dimers, impairing wild-type angiopoietin 1 function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0001525 – angiogenesis | • GO:0005515 – protein binding |
| • GO:0008083 – growth factor activity | • GO:0048010 – vascular endothelial growth factor receptor signaling pathway |
| • GO:0030154 – cell differentiation | • GO:0043536 – positive regulation of blood vessel endothelial cell migration |
Pathways
• Angiopoietin receptor Tie2 signaling (Reactome: R-HSA-210990)
• VEGFA-VEGFR2 pathway (Reactome: R-HSA-194138)
• Development of vasculature (Reactome: R-HSA-1474244)
Protein Summary
Angiopoietin 1 is a 498-amino-acid secreted glycoprotein with a coiled-coil domain and a fibrinogen C-terminal domain. It forms homotrimers and higher-order multimers that bind to the Tie2 receptor on endothelial cells. Binding induces receptor dimerization and autophosphorylation, activating PI3K/Akt and MAPK pathways to promote endothelial cell survival, migration, and vessel stabilization. ANGPT1 is essential for embryonic vascular development and maintains adult vascular quiescence.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANGPT1 Knockout HEK293 Cell Line | EDJ-KQ1201 | Human | 284 | Details Get a Quote |
| ANGPT1 Knockout HeLa Cell Line | EDJ-KQ52618 | Human | 284 | Details Get a Quote |
| ANGPT1 Knockout A-549 Cell Line | EDJ-KQ61097 | Human | 284 | Details Get a Quote |
| ANGPT1 Knockout HCT 116 Cell Line | EDJ-KQ69580 | Human | 284 | Details Get a Quote |
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