ANTXR1
Function
Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells.
(Microbial infection) Acts as a receptor for protective antigen (PA) of B.anthracis.
Involvement in disease
Hemangioma, capillary infantile
HCI
A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
GAPO syndrome
GAPOS
An autosomal recessive disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ATR family.
Tissue Specificity
Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell projection
- Lamellipodium membrane
- Single-pass type I membrane protein
- Cell projection
- Filopodium membrane
- Single-pass type I membrane protein
- At the membrane of lamellipodia and at the tip of actin-enriched filopodia (PubMed:16762926). Colocalizes with actin at the base of lamellipodia (PubMed:16762926).
Alternative names
ATR, TEM8, ANTXR1, Anthrax toxin receptor 1, Tumor endothelial marker 8