GeneID: 208


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

The ANTXR1 gene encodes a type I transmembrane protein with a single membrane-spanning domain that also serves as a cellular receptor for the anthrax toxin. The encoded protein contains an extracellular domain, which is highly similar to the von Willebrand factor type A (VWA) domain, with a metal ion-dependent adhesion site (MIDAS) motif required for ligand binding. The protective antigen (PA) component of the Bacillus anthracis toxin binds to the VWA domain for toxin entry in the cytosol. ANTXR1 is ubiquitously expressed and its normal functions are mainly associated with binding to extracellular matrix components, suggesting a role in adhesion and migration of cells. ANTXR1 is also known as Tumor Endothelial Marker 8 (TEM8) based on its selective upregulation in tumour-associated endothelial cells. ANTXR1 is implicated in events associated with angiogenesis. Loss-of-function mutations in the ANTXR1 gene associated with GAPO syndrome manifestations. Polymorphisms in this gene associated with high levels of HbF in cohorts of Saudi AI haplotype homozygotes but not in other sickle cell anaemia (SCA) populations. It is presumed that the effect of ANTXR1 on HbF regulation may stem from changes in Wnt signalling during hematopoiesis and/or interaction with HDAC enzymes.

Synonyms: ATR , GAPO , TEM8


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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. van der Goot G, Young JA, Receptors of anthrax toxin and cell entry., Mol. Aspects Med., 30(6), 406-12, 2009 PubMed
  3. Hu K, Olsen BR, Besschetnova TY, Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts., Matrix Biol. , 2016 PubMed
  4. Pietrzyk Ł, Biomarkers Discovery for Colorectal Cancer: A Review on Tumor Endothelial Markers as Perspective Candidates., Dis. Markers , 2016(0), 4912405, 2016 PubMed
  5. 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
  6. Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG, Kelsell DP, New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report., Mol Syndromol, 7(3), 160-3, 2016 PubMed
  7. 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
  8. Al-Ali ZA, Fallatah RK, Aljaffer EA, Albukhari ER, Sadek Al-Ali N, Al-Ghannam ZT, Sayeb Al-Atrash R, Alsuliman A, Vatte C, ANTXR1 Intronic Variants Are Associated with Fetal Hemoglobin in the Arab-Indian Haplotype of Sickle Cell Disease., Acta Haematol., 140(1), 55-59, 2018 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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