ANGPTL1
Angiopoietin Like 1
Gene Information Card
| Symbol | ANGPTL1 |
|---|---|
| Full Name | Angiopoietin Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.2 |
| NCBI Gene ID | 9068 ncbi.nlm.nih.gov/gene/9068 |
| Ensembl ID | ENSG00000116288 |
| UniProt ID | O95841 |
| OMIM ID | 603874 |
| HGNC ID | 490 |
| Aliases | ANG-3, ANGPT3, ARP1, Angioarrestin |
Description
ANGPTL1 (Angiopoietin Like 1) is a member of the angiopoietin-like family of secreted factors. It functions as a regulator of angiogenesis, cell migration, and vascular permeability. ANGPTL1 is widely expressed in adult tissues and has been implicated in tumor suppression, metabolic regulation, and vascular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Downregulation or loss of ANGPTL1 promotes tumor angiogenesis and metastasis. | PMID: 25605247, PMID: 28411376 |
| Coronary artery disease | ANGPTL1 variants may influence lipid metabolism and vascular inflammation. | PMID: 23382691 |
| Metabolic syndrome | ANGPTL1 modulates insulin sensitivity and lipid clearance. | PMID: 25857263 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 6.7 | Low |
| Kidney | 5.4 | Low |
| Skeletal muscle | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HUVEC | 7.8 | Human umbilical vein endothelial cells |
| A549 | 4.5 | Lung adenocarcinoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331C>T (p.Arg111Cys) | Missense | <0.01% | Unknown functional impact |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ANGPTL1 are rare; reduced expression is observed in tumors.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • angiogenesis | • cell migration |
| • vascular endothelial growth factor receptor signaling pathway | • negative regulation of endothelial cell proliferation |
| • extracellular space |
Pathways
• Angiopoietin receptor Tie2 signaling
• VEGF-VEGFR signaling pathway
Protein Summary
ANGPTL1 is a secreted glycoprotein containing a coiled-coil domain and a fibrinogen-like domain. It inhibits endothelial cell proliferation and migration, thereby suppressing angiogenesis. The protein is also involved in lipid metabolism and insulin sensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANGPTL1 Knockout HEK293 Cell Line | EDJ-KQ5776 | Human | 9068 | Details Get a Quote |
| ANGPTL1 Knockout HeLa Cell Line | EDJ-KQ55070 | Human | 9068 | Details Get a Quote |
| ANGPTL1 Knockout A-549 Cell Line | EDJ-KQ63551 | Human | 9068 | Details Get a Quote |
| ANGPTL1 Knockout HCT 116 Cell Line | EDJ-KQ72019 | Human | 9068 | Details Get a Quote |
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