InnateDB Protein
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IDBP-295679.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ANTXR1
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Protein Name
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anthrax toxin receptor 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000386494
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InnateDB Gene
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IDBG-54751 (ANTXR1)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells. {ECO:0000269PubMed:15777794}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002035
von Willebrand factor, type A
IPR008400
Anthrax toxin receptor, extracellular
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PFAM |
PF00092
PF05587
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PRINTS |
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PIRSF |
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SMART |
SM00327
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H6X2
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PhosphoSite |
PhosphoSite-Q9H6X2
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
84168
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UniGene |
Hs.625840
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RefSeq |
NP_444262
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HUGO |
HGNC:21014
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OMIM |
606410
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CCDS |
CCDS46313
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HPRD |
05913
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IMGT |
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EMBL |
AC112230
AC114802
AF279145
AF421380
AK001463
AK025429
AK292113
BC012074
JX424838
JX424839
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GenPept |
AAH12074
AAK52094
AAL26496
AAX88860
AAY24067
AFQ94038
AFQ94039
BAA91707
BAB15128
BAF84802
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