ANTXR1 Antibody – Rabbit Polyclonal

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]

ANTXR1: 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. Defects in ANTXR1 are associated with susceptibility to hemangioma capillary infantile (HCI). HCI are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Belongs to the ATR family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Actin-binding; Receptor, misc.; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2p13.1

Cellular Component: filopodium membrane; cell surface; integral to membrane; plasma membrane; endosome membrane

Molecular Function: collagen binding; actin filament binding; protein binding; transmembrane receptor activity; metal ion binding

Biological Process: actin cytoskeleton reorganization; reproductive process; pathogenesis; signal transduction

Disease: Gapo Syndrome; Hemangioma, Capillary Infantile