ANTXR1 Gene Summary [Human]
This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
Details
| Type | Retained Intron |
| Official Symbol | ANTXR1 |
| Official Name | ANTXR cell adhesion molecule 1 [Source:HGNC Symbol;Acc:HGNC:21014] |
| Ensembl ID | ENSG00000169604 |
| Bio databases IDs | |
| Aliases | ANTXR cell adhesion molecule 1, anthrax toxin receptor, tumor endothelial marker 8 precursor |
| Synonyms | 2310008J16Rik, 2810405N18Rik, anthrax toxin receptor 1, Antrx1, ANTXR cell adhesion molecule 1, ATR, ATR1, GAPO, TEM8, TEM8 splice variant 1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 ANTXR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MIDAS motif
- extracellular domain
- von Willebrand factor (vWF) type A domain
- von Willebrand factor type A domain
- inserted domain
- protein binding
- Anthrax receptor C-terminus region
- actin filament binding
- cytoplasmic domain
- vWFA
- transmembrane domain
- intracellular domain
- collagen binding
- domain I
- Anthrax receptor extracellular domain
- cytosolic tail domain
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- neoplasia
- infantile hemangioma formation
- breast carcinoma
- colorectal cancer
- murine Lewis lung carcinoma
- lung carcinoma process
- open-angle glaucoma
- susceptibility to capillary infantile hemangioma
- growth retardation, alopecia, pseudoanodontia, and progressive visual impairment syndrome
role in cell
- cell viability
- expression in
- growth
- activation in
- quantity
- cell spreading
- killing
- cell death
- survival
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- pH resistant lipid raft fraction
- Cytoplasm
- cell surface
- cellular membrane
- basolateral cell surfaces
- plasma membrane extracellular face
- endosomal membrane
- membrane rafts
- filopodia
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANTXR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- blood vessel development
- substrate adhesion-dependent cell spreading
- reproductive process
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- filopodium membrane
- external side of plasma membrane
- endosome membrane
- plasma membrane
- lamellipodium membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- transmembrane signaling receptor activity
- protein binding
- collagen binding
- metal ion binding