UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Actin-binding; Receptor, misc. Chromosomal Location of Human Ortholog: 2p13.1 Cellular Component: filopodium membrane; cell surface; plasma membrane; integral to 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 |
NCBI Summary: | 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] |
UniProt Code: | Q9H6X2 |
NCBI GenInfo Identifier: | 17366074 |
NCBI Gene ID: | 84168 |
NCBI Accession: | Q9H6X2.2 |
UniProt Secondary Accession: | Q9H6X2,Q4ZFV6, Q53QD8, Q96P02, Q9NVP3, A8K7U8, J7K7G4 J7KF88, |
UniProt Related Accession: | Q9H6X2 |
Molecular Weight: | 564 |
NCBI Full Name: | Anthrax toxin receptor 1 |
NCBI Synonym Full Names: | anthrax toxin receptor 1 |
NCBI Official Symbol: | ANTXR1 |
NCBI Official Synonym Symbols: | ATR; GAPO; TEM8 |
NCBI Protein Information: | anthrax toxin receptor 1; 2310008J16Rik; 2810405N18Rik; tumor endothelial marker 8 |
UniProt Protein Name: | Anthrax toxin receptor 1 |
UniProt Synonym Protein Names: | Tumor endothelial marker 8 |
Protein Family: | Anthrax toxin receptor |
UniProt Gene Name: | ANTXR1 |
UniProt Entry Name: | ANTR1_HUMAN |