AGGF1: Angiogenic Factor with G-Patch and FHA Domains 1
Key regulator of angiogenesis and vascular development; mutations linked to venous malformations and cardiovascular disease.
Gene Information Card
| Symbol | AGGF1 |
|---|---|
| Full Name | Angiogenic Factor with G-Patch and FHA Domains 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.3 |
| NCBI Gene ID | 55109 ncbi.nlm.nih.gov/gene/55109 |
| Ensembl ID | ENSG00000164252 |
| UniProt ID | Q8N302 |
| OMIM ID | 608464 |
| HGNC ID | 24698 |
| Aliases | VG5Q, GPATC7, GPATCH7, HSU84971 |
Description
AGGF1 encodes a protein with a G-patch domain and a forkhead-associated (FHA) domain, involved in angiogenesis and vascular development. It acts as a potent angiogenic factor, promoting endothelial cell proliferation, migration, and tube formation. Mutations in AGGF1 are associated with venous malformations and may contribute to other vascular anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Venous malformations (VM) | Missense mutations (e.g., p.Gln97Pro) alter protein function leading to abnormal venous development | OMIM #608464; ClinVar |
| Klippel-Trenaunay syndrome (KTS) | AGGF1 overexpression or duplication may contribute to vascular overgrowth | OMIM #608464; NCBI Gene |
| Coronary artery disease (CAD) | Polymorphisms in AGGF1 associated with increased risk of CAD | NCBI Gene; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 14.2 | Medium |
| Lung | 11.8 | Medium |
| Liver | 9.5 | Low |
| Kidney | 12.1 | Medium |
| Brain | 8.3 | Low |
| Skeletal muscle | 6.7 | Low |
| Placenta | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 18.4 | High expression; relevant to angiogenesis |
| HeLa | 12.1 | Moderate expression |
| HEK293 | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.289C>G (p.Gln97Pro) | Missense | Rare | Associated with venous malformations; alters protein conformation |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Unknown functional effect; reported in ClinVar |
| c.1546C>T (p.Arg516Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; most reported mutations are missense with uncertain impact on protein function.
Gain of Function (GOF)
p.Gln97Pro may confer gain-of-function leading to enhanced angiogenic activity.
Dominant Negative (DN)
Not reported for AGGF1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0001525 - angiogenesis | • GO:0005515 - protein binding |
| • GO:0005634 - nucleus | • GO:0005737 - cytoplasm |
| • GO:0042802 - identical protein binding | • GO:0046872 - metal ion binding |
Pathways
• Angiogenesis (Reactome: R-HSA-194138)
• VEGF signaling pathway (KEGG: hsa04370)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
AGGF1 is a 714-amino acid protein containing an N-terminal G-patch domain involved in RNA binding and a C-terminal FHA domain mediating phosphoprotein interactions. It is secreted and promotes angiogenesis by activating the PI3K/Akt and ERK1/2 signaling pathways. The protein is widely expressed, with highest levels in heart, placenta, and lung.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGGF1 Knockout HEK293 Cell Line | EDJ-KQ12307 | Human | 55109 | Details Get a Quote |
| AGGF1 Knockout A-549 Cell Line | EDJ-KQ41136 | Human | 55109 | Details Get a Quote |
| AGGF1 Knockout HCT 116 Cell Line | EDJ-KQ41137 | Human | 55109 | Details Get a Quote |
| AGGF1 Knockout HeLa Cell Line | EDJ-KQ39886 | Human | 55109 | Details Get a Quote |
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