Homo sapiens Protein: ANTXR1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-54753.6 | ||||||||||||||||||
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 | ENSP00000301945 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR002035
von Willebrand factor, type A IPR008399 Anthrax toxin receptor, C-terminal IPR008400 Anthrax toxin receptor, extracellular IPR017360 Anthrax toxin receptor |
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PFAM |
PF00092
PF05586 PF05587 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF038023
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SMART |
SM00327
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9H6X2 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9H6X2 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 84168 | ||||||||||||||||||
UniGene | Hs.625840 | ||||||||||||||||||
RefSeq | NP_115584 | ||||||||||||||||||
HUGO | HGNC:21014 | ||||||||||||||||||
OMIM | 606410 | ||||||||||||||||||
CCDS | CCDS1892 | ||||||||||||||||||
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 | ||||||||||||||||||