Homo sapiens Protein: ANTXR1
Summary
InnateDB Protein IDBP-295683.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ANTXR1
Protein Name anthrax toxin receptor 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000387058
InnateDB Gene IDBG-54751 (ANTXR1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:15777794, ECO:0000269PubMed:16762926}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:16762926}; Single-pass type I membrane protein {ECO:0000269PubMed:16762926}. Cell projection, lamellipodium membrane {ECO:0000269PubMed:16762926}; Single-pass type I membrane protein {ECO:0000269PubMed:16762926}. Cell projection, filopodium membrane {ECO:0000269PubMed:16762926}; Single-pass type I membrane protein {ECO:0000269PubMed:16762926}. Note=At the membrane of lamellipodia and at the tip of actin-enriched filopodia. Colocalizes with actin at the base of lamellipodia.
Disease Associations Hemangioma, capillary infantile (HCI) [MIM:602089]: 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. {ECO:0000269PubMed:18931684}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.GAPO syndrome (GAPO) [MIM:230740]: A disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients. {ECO:0000269PubMed:23602711}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells. {ECO:0000269PubMed:15777794}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0046872 metal ion binding
GO:0051015 actin filament binding
Biological Process
GO:0007165 signal transduction
GO:0031532 actin cytoskeleton reorganization
GO:0034446 substrate adhesion-dependent cell spreading
Cellular Component
GO:0016021 integral component of membrane
GO:0031258 lamellipodium membrane
GO:0031527 filopodium membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR002035 von Willebrand factor, type A
IPR008400 Anthrax toxin receptor, extracellular
PFAM PF00092
PF05587
PRINTS
PIRSF
SMART SM00327
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H6X2
PhosphoSite PhosphoSite-Q9H6X2
TrEMBL
UniProt Splice Variant
Entrez Gene 84168
UniGene Hs.625840
RefSeq NP_060623
HUGO HGNC:21014
OMIM 606410
CCDS CCDS46314
HPRD 05913
IMGT
EMBL AC112230 AC114802 AF279145 AF421380 AK001463 AK025429 AK292113 BC012074 JX424838 JX424839
GenPept AAH12074 AAK52094 AAL26496 AAX88860 AAY24067 AFQ94038 AFQ94039 BAA91707 BAB15128 BAF84802