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Aliases for ANTXR1 Gene

Aliases for ANTXR1 Gene

  • Anthrax Toxin Receptor 1 2 3 5
  • Tumor Endothelial Marker 8 3 4
  • TEM8 3 4
  • ATR 3 4
  • Tumor Endothelial Marker 8 Precursor 2
  • Anthrax Toxin Receptor 2
  • 2310008J16Rik 3
  • 2810405N18Rik 3
  • GAPO 3

External Ids for ANTXR1 Gene

Previous GeneCards Identifiers for ANTXR1 Gene

  • GC02P069198
  • GC02P069215
  • GC02P069152

Summaries for ANTXR1 Gene

Entrez Gene Summary for ANTXR1 Gene

  • This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]

GeneCards Summary for ANTXR1 Gene

ANTXR1 (Anthrax Toxin Receptor 1) is a Protein Coding gene. Diseases associated with ANTXR1 include gapo syndrome and hemangioma, capillary infantile. Among its related pathways are p53 Signaling and Infectious disease. GO annotations related to this gene include receptor activity and actin filament binding. An important paralog of this gene is ANTXR2.

UniProtKB/Swiss-Prot for ANTXR1 Gene

  • 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.

Gene Wiki entry for ANTXR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANTXR1 Gene

Genomics for ANTXR1 Gene

Regulatory Elements for ANTXR1 Gene

Enhancers for ANTXR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANTXR1 on UCSC Golden Path with GeneCards custom track

Promoters for ANTXR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANTXR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANTXR1 Gene

Chromosome:
2
Start:
69,013,144 bp from pter
End:
69,249,327 bp from pter
Size:
236,184 bases
Orientation:
Plus strand

Genomic View for ANTXR1 Gene

Genes around ANTXR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANTXR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANTXR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANTXR1 Gene

Proteins for ANTXR1 Gene

  • Protein details for ANTXR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6X2-ANTR1_HUMAN
    Recommended name:
    Anthrax toxin receptor 1
    Protein Accession:
    Q9H6X2
    Secondary Accessions:
    • A8K7U8
    • J7K7G4
    • J7KF88
    • Q4ZFV6
    • Q53QD8
    • Q96P02
    • Q9NVP3

    Protein attributes for ANTXR1 Gene

    Size:
    564 amino acids
    Molecular mass:
    62789 Da
    Quaternary structure:
    • Interacts with gelatin and type 1 collagen. Interacts with the actin cytoskeleton. Binds to the protective antigen (PA) of Bacillus anthracis. Binding does not occur in the presence of calcium.
    SequenceCaution:
    • Sequence=BAA91707.1; Type=Miscellaneous discrepancy; Note=Erroneous initiation (Translation N-terminally extended) due to a conflict with the genome, including a frameshift.; Evidence={ECO:0000305}; Sequence=BAB15128.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANTXR1 Gene

    Alternative splice isoforms for ANTXR1 Gene

neXtProt entry for ANTXR1 Gene

Proteomics data for ANTXR1 Gene at MOPED

Post-translational modifications for ANTXR1 Gene

  • Ubiquitination at Lys 445 and Lys 453
  • Glycosylation at Asn 166, Asn 184, and Asn 262
  • Modification sites at PhosphoSitePlus

Other Protein References for ANTXR1 Gene

Antibody Products

No data available for DME Specific Peptides for ANTXR1 Gene

Domains & Families for ANTXR1 Gene

Suggested Antigen Peptide Sequences for ANTXR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H6X2

UniProtKB/Swiss-Prot:

ANTR1_HUMAN :
  • Binding to PA occurs through the VWA domain.
  • Belongs to the ATR family.
Domain:
  • Binding to PA occurs through the VWA domain.
  • Contains 1 VWFA domain.
Family:
  • Belongs to the ATR family.
genes like me logo Genes that share domains with ANTXR1: view

No data available for Gene Families for ANTXR1 Gene

Function for ANTXR1 Gene

Molecular function for ANTXR1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated in cultured angiogenic umbilical vein endothelial cells.

Gene Ontology (GO) - Molecular Function for ANTXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IDA 16762926
genes like me logo Genes that share ontologies with ANTXR1: view
genes like me logo Genes that share phenotypes with ANTXR1: view

Human Phenotype Ontology for ANTXR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANTXR1 Gene

MGI Knock Outs for ANTXR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ANTXR1

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ANTXR1 Gene

Localization for ANTXR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANTXR1 Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, lamellipodium membrane; Single-pass type I membrane protein. Cell projection, filopodium membrane; Single-pass type I membrane protein. Note=At the membrane of lamellipodia and at the tip of actin-enriched filopodia. Colocalizes with actin at the base of lamellipodia.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANTXR1 Gene COMPARTMENTS Subcellular localization image for ANTXR1 gene
Compartment Confidence
endosome 5
extracellular 5
plasma membrane 5
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ANTXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010008 endosome membrane TAS --
GO:0031527 filopodium membrane IDA 16762926
genes like me logo Genes that share ontologies with ANTXR1: view

Pathways & Interactions for ANTXR1 Gene

genes like me logo Genes that share pathways with ANTXR1: view

Pathways by source for ANTXR1 Gene

1 Sino Biological pathway for ANTXR1 Gene
1 BioSystems pathway for ANTXR1 Gene

Gene Ontology (GO) - Biological Process for ANTXR1 Gene

None

No data available for SIGNOR curated interactions for ANTXR1 Gene

Drugs & Compounds for ANTXR1 Gene

(1) Drugs for ANTXR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with ANTXR1: view

Transcripts for ANTXR1 Gene

Unigene Clusters for ANTXR1 Gene

Anthrax toxin receptor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANTXR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - -
SP5:
SP6: -
SP7:

ExUns: 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ANTXR1 Gene

GeneLoc Exon Structure for
ANTXR1
ECgene alternative splicing isoforms for
ANTXR1

Expression for ANTXR1 Gene

mRNA expression in normal human tissues for ANTXR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANTXR1 Gene

This gene is overexpressed in Artery - Aorta (x5.5), Artery - Coronary (x5.2), and Artery - Tibial (x4.1).

Protein differential expression in normal tissues from HIPED for ANTXR1 Gene

This gene is overexpressed in Urine (21.9), Bone (20.1), and Testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ANTXR1 Gene



SOURCE GeneReport for Unigene cluster for ANTXR1 Gene Hs.165859

mRNA Expression by UniProt/SwissProt for ANTXR1 Gene

Q9H6X2-ANTR1_HUMAN
Tissue specificity: Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells.
genes like me logo Genes that share expression patterns with ANTXR1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for ANTXR1 Gene

Orthologs for ANTXR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANTXR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANTXR1 35
  • 92.54 (n)
  • 97.43 (a)
ANTXR1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANTXR1 35
  • 90.69 (n)
  • 97.4 (a)
ANTXR1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Antxr1 35
  • 87.26 (n)
  • 96.58 (a)
Antxr1 16
Antxr1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANTXR1 35
  • 99.53 (n)
  • 99.82 (a)
ANTXR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Antxr1 35
  • 86.38 (n)
  • 96.98 (a)
oppossum
(Monodelphis domestica)
Mammalia ANTXR1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANTXR1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANTXR1 35
  • 80.71 (n)
  • 90.02 (a)
ANTXR1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia antxr1 35
  • 74.45 (n)
  • 81.29 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC793153 35
  • 74.07 (n)
  • 79.05 (a)
antxr1a 36
  • 69 (a)
OneToMany
antxr1b 36
  • 61 (a)
OneToMany
Species with no ortholog for ANTXR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANTXR1 Gene

ENSEMBL:
Gene Tree for ANTXR1 (if available)
TreeFam:
Gene Tree for ANTXR1 (if available)

Paralogs for ANTXR1 Gene

Paralogs for ANTXR1 Gene

(3) SIMAP similar genes for ANTXR1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ANTXR1: view

Variants for ANTXR1 Gene

Sequence variations from dbSNP and Humsavar for ANTXR1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs28365986 - 69,013,519(+) GCGGA(A/G)AGCCC nc-transcript-variant, reference, missense
VAR_063146 -
rs4854472 -- 69,091,655(+) GCTAT(A/G)CTAAA intron-variant
rs4854473 -- 69,146,826(+) TAGTT(C/T)CAGAG intron-variant, downstream-variant-500B
rs4854475 -- 69,225,349(+) GTGGC(A/T)TATGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANTXR1 Gene

Variant ID Type Subtype PubMed ID
nsv521516 CNV Loss 19592680
esv1001025 CNV Deletion 20482838
esv33940 CNV Loss 17666407
nsv2767 CNV Insertion 18451855
nsv528644 CNV Loss 19592680

Variation tolerance for ANTXR1 Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.10; 50.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANTXR1 Gene

HapMap Linkage Disequilibrium report
ANTXR1
Human Gene Mutation Database (HGMD)
ANTXR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANTXR1 Gene

Disorders for ANTXR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ANTXR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gapo syndrome
  • growth retardation, alopecia, pseudoanodontia and optic atrophy
hemangioma, capillary infantile
  • hemangioma, capillary infantile, somatic
anthrax disease
  • gas gangrene
familial capillary hemangioma
hemangioma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ANTR1_HUMAN
  • GAPO syndrome (GAPO) [MIM:230740]: A disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients. {ECO:0000269 PubMed:23602711}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:0000269 PubMed:18931684}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for ANTXR1

Genetic Association Database (GAD)
ANTXR1
Human Genome Epidemiology (HuGE) Navigator
ANTXR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANTXR1
genes like me logo Genes that share disorders with ANTXR1: view

No data available for Genatlas for ANTXR1 Gene

Publications for ANTXR1 Gene

  1. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B. … Kinzler K.W. (Science 2000) 2 3 4 67
  2. Endocytosis of the anthrax toxin is mediated by clathrin, actin and unconventional adaptors. (PMID: 20221438) Abrami L. … van der Goot F.G. (PLoS Pathog. 2010) 3 23
  3. Direct interaction between anthrax toxin receptor 1 and the actin cytoskeleton. (PMID: 19817382) Garlick K.M. … Mogridge J. (Biochemistry 2009) 3 23
  4. Receptor-specific requirements for anthrax toxin delivery into cells. (PMID: 16141341) Rainey G.J. … Young J.A. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 23
  5. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. (PMID: 12700348) Scobie H.M. … Young J.A.T. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 23

Products for ANTXR1 Gene

Sources for ANTXR1 Gene

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