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.

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 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
Displaying Records 1 To 4 Of 4 Records
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