GeneID: 208



Names

Common Name: ANTXR1 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NG_012649.1 (ANTXR1)
HUGO Symbol: ANTXR1 Full Name: anthrax toxin receptor 1
Exons: 18 Introns: 17

Description:
The ANTXR1 gene encodes a type I transmembrane protein and receptor for anthrax toxin. Specifically, it acts as a docking protein for the protective antigen (PA) component of the Bacillus anthracis toxin, which is the causative agent of the disease anthrax, for delivery into the cystosol of cells. It is induced in tumor-associated vasculature. The encoded protein contains an extracellular von Willebrand factor (vWF) domain with a metal ion-dependent adhesion site (MIDAS) motif, which is critical for mediating cell-to-cell and cell-to-extracellular matrix interactions. The interaction with cellular matrix components suggests a role in adhesion and migration of cells. It is proposed to play a role in angiogenesis. Polymorphisms in this gene associated with HbF levels in patients with sickle cell disease. Bioinfomartics analysis suggested that the ANTXR1 gene could affect HbF expression through Wnt signalling and/or interaction with HDAC2, pending functional characterization. Three alternatively spliced variants that encode different protein isoforms have been described.

Synonyms: ATR , GAPO , TEM8

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Werner E, Kowalczyk AP, Faundez V, Anthrax toxin receptor 1/tumor endothelium marker 8 mediates cell spreading by coupling extracellular ligands to the actin cytoskeleton., J. Biol. Chem. , 281(32), 23227-36, 2006 PubMed
  2. Hu K, Olsen BR, Besschetnova TY, Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts., Matrix Biol. , 2016 PubMed
  3. Pietrzyk Ł, Biomarkers Discovery for Colorectal Cancer: A Review on Tumor Endothelial Markers as Perspective Candidates., Dis. Markers , 2016(0), 4912405, 2016 PubMed
  4. Vathipadiekal V, Farrell JJ, Wang S, Edward HL, Shappell H, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Alsuliman A, Qutub HO, Simkin I, Farrer LA, Jiang Z, Luo HY, Huang S, Mostoslavsky G, Murphy GJ, Patra PK, Chui DH, Alsultan A, Al-Ali AK, Sebastiani P, Steinberg MH, A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia., Am. J. Hematol. , 91(11), 1118-1122, 2016 PubMed
  5. Habara AH, Shaikho EM, Steinberg MH, Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents., Am. J. Hematol. , 2017 PubMed
Created on 2017-02-06 14:41:02, Last reviewed on 2017-09-26 17:16:42 (Show full history)


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