ANGPT1 Gene Summary [Human]

This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020]

Details

Type
Protein Coding
Official Symbol
ANGPT1
Official Name
angiopoietin 1 [Source:HGNC Symbol;Acc:HGNC:484]
Ensembl ID
ENSG00000154188
Bio databases IDs NCBI: 284 Ensembl: ENSG00000154188
Aliases angiopoietin 1
Synonyms 1110046O21Rik, AGP1, AGPT, AGPT-1, ANG1, angiopoietin 1, HAE5, KIAA0003
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ANGPT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Ciliary protein causing Leber congenital amaurosis disease
  • fibrinogen-like domain
  • receptor tyrosine kinase binding
  • receptor agonist activity
  • linker domain
  • coiled-coil domain
  • protein binding
  • receptor binding
  • vascular endothelial growth factor receptor binding
  • FReD
  • identical protein binding
  • growth factor

Pathways

Biological processes and signaling networks where the ANGPT1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • neoplasia
  • ovarian cancer
  • gastrointestinal stromal tumor
  • Kawasaki disease
  • gastrointestinal stromal neoplasia
  • glaucoma
  • refractive error
  • open-angle glaucoma
  • obesity
regulated by
regulates
role in cell
  • survival
  • migration
  • expression in
  • tubulation
  • phosphorylation in
  • proliferation
  • activation in
  • apoptosis
  • production in
  • binding in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • extracellular matrix fraction
  • Cytoplasm
  • perinuclear region
  • Plasma Membrane
  • extracellular matrix
  • membrane rafts
  • microvilli
  • perivascular matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ANGPT1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • activation of transmembrane receptor protein tyrosine kinase activity
  • protein localization at cell surface
  • positive chemotaxis
  • hemopoiesis
  • sprouting angiogenesis
  • regulation of I-kappaB kinase/NF-kappaB cascade
  • positive regulation of cell adhesion
  • negative regulation of neuron apoptotic process
  • angiogenesis
  • in utero embryonic development
  • positive regulation of protein ubiquitination
  • negative regulation of cytokine production involved in immune response
  • negative regulation of endothelial cell apoptotic process
  • positive regulation of endothelial cell migration
  • positive regulation of peptidyl-tyrosine phosphorylation
  • neuron apoptotic process
  • positive regulation of peptidyl-serine phosphorylation
  • negative regulation of protein import into nucleus
  • positive regulation of receptor internalization
  • negative regulation of cell adhesion
  • regulation of tumor necrosis factor production
  • negative regulation of vascular permeability
  • positive regulation of blood vessel endothelial cell migration
  • negative regulation of apoptotic process
  • positive regulation of gene expression
  • negative regulation of protein phosphorylation
  • Tie receptor signaling pathway
  • glomerulus vasculature development
  • positive regulation of ERK1 and ERK2 cascade
  • positive regulation of protein phosphorylation
  • regulation of endothelial cell proliferation
  • heparin biosynthetic process
  • cell-substrate adhesion
  • regulation of macrophage migration inhibitory factor signaling pathway
  • regulation of satellite cell proliferation
  • positive regulation of protein kinase B signaling cascade

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • extracellular vesicular exosome
  • microvillus
  • membrane raft
  • extracellular region
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • receptor tyrosine kinase binding

Gene-Specific Assays for Results You Can Trust

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