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 ... See more...

Aliases for ANTXR1 Gene

Aliases for ANTXR1 Gene

  • ANTXR Cell Adhesion Molecule 1 2 3 5
  • Anthrax Toxin Receptor 1 2 3 4
  • 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 (ANTXR Cell Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with ANTXR1 include Gapo Syndrome and Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities. Among its related pathways are NOD-like receptor signaling pathway and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is ANTXR2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ANTXR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANTXR1 Gene

Genomics for ANTXR1 Gene

GeneHancer (GH) Regulatory Elements for ANTXR1 Gene

Promoters and enhancers for ANTXR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANTXR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANTXR1 gene promoter:
  • Elk-1
  • FOXD1
  • GATA-1
  • LCR-F1
  • p53
  • POU2F1
  • POU2F1a
  • STAT5A

Genomic Locations for ANTXR1 Gene

Genomic Locations for ANTXR1 Gene
chr2:69,013,144-69,249,327
(GRCh38/hg38)
Size:
236,184 bases
Orientation:
Plus strand
chr2:69,240,276-69,476,459
(GRCh37/hg19)
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

Post-translational modifications for ANTXR1 Gene

  • Glycosylation at Asn166, Asn184, and Asn262
  • Ubiquitination at Lys445 and Lys453
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ANTXR1

No data available for DME Specific Peptides for ANTXR1 Gene

Domains & Families for ANTXR1 Gene

Gene Families for ANTXR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ANTXR1 Gene

GenScript: Design optimal peptide antigens:
  • Tumor endothelial marker 8 (ANTR1_HUMAN)
  • Anthrax toxin receptor 1, isoform CRA_a (D6W5F9_HUMAN)
  • ANTXR1 protein (Q96EC6_HUMAN)

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.
Family:
  • Belongs to the ATR family.
genes like me logo Genes that share domains with ANTXR1: view

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.

Phenotypes From GWAS Catalog for ANTXR1 Gene

Gene Ontology (GO) - Molecular Function for ANTXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IDA 16762926
GO:0005515 protein binding IPI 14507921
GO:0005518 collagen binding IDA 16762926
GO:0038023 signaling receptor activity IEA --
GO:0046872 metal ion binding IEA --
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANTXR1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANTXR1 gene
Compartment Confidence
plasma membrane 5
endosome 4
extracellular 1
cytoskeleton 1
cytosol 1
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANTXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,TAS --
GO:0009897 external side of plasma membrane IDA 21129411
GO:0009986 cell surface IDA 21129411
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IEA --
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 KEGG pathway for ANTXR1 Gene

Gene Ontology (GO) - Biological Process for ANTXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0022414 reproductive process IEA --
GO:0031532 actin cytoskeleton reorganization IDA 16762926
GO:0034446 substrate adhesion-dependent cell spreading IDA 16762926
GO:1901202 negative regulation of extracellular matrix assembly IEA --
genes like me logo Genes that share ontologies with ANTXR1: view

No data available for SIGNOR curated interactions for ANTXR1 Gene

Drugs & Compounds for ANTXR1 Gene

(2) Drugs for ANTXR1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
MDX-1303 Investigational Pharma Target 0
genes like me logo Genes that share compounds with ANTXR1: view

Transcripts for ANTXR1 Gene

mRNA/cDNA for ANTXR1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANTXR1

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ANTXR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ANTXR1 Gene:

ANTXR1

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.

Evidence on tissue expression from TISSUES for ANTXR1 Gene

  • Nervous system(4.9)
  • Kidney(4.2)
  • Lung(2.8)
  • Skin(2.8)
  • Heart(2.4)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANTXR1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ANTXR1: view

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
chimpanzee
(Pan troglodytes)
Mammalia ANTXR1 33 32
  • 99.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANTXR1 33 32
  • 92.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANTXR1 33 32
  • 90.69 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANTXR1 33
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Antxr1 17 33 32
  • 87.26 (n)
rat
(Rattus norvegicus)
Mammalia Antxr1 32
  • 86.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANTXR1 33
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANTXR1 33 32
  • 80.71 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia antxr1 32
  • 74.45 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC793153 32
  • 74.07 (n)
antxr1a 33
  • 69 (a)
OneToMany
antxr1b 33
  • 61 (a)
OneToMany
Species where no ortholog for ANTXR1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANTXR1: view image

Paralogs for ANTXR1 Gene

Paralogs for ANTXR1 Gene

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

  • ANTR1_HUMAN
  • D6W5F9_HUMAN
  • H0YC24_HUMAN
  • Q96EC6_HUMAN
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 Variation AA Info Type
rs119475040 risk-factor, Hemangioma, capillary infantile, - 69,152,193(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs397514700 likely-pathogenic, Odontotrichomelic syndrome 69,075,602(+) C/T coding_sequence_variant, stop_gained
rs397514701 pathogenic, Odontotrichomelic syndrome 69,044,779(+) C/T coding_sequence_variant, stop_gained
rs869312895 likely-pathogenic, Odontotrichomelic syndrome 69,182,528(+) T/TT coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs869312896 likely-pathogenic, Odontotrichomelic syndrome 69,071,786(+) A/G coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv1001025 CNV deletion 20482838
esv3343061 CNV insertion 20981092
esv33940 CNV loss 17666407
esv3558210 CNV deletion 23714750
esv3591178 CNV loss 21293372
nsv2767 CNV insertion 18451855
nsv521516 CNV loss 19592680
nsv528644 CNV loss 19592680
nsv953142 CNV duplication 24416366

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)

Additional Variant Information for ANTXR1 Gene

Human Gene Mutation Database (HGMD)
ANTXR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANTXR1

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

Disorders for ANTXR1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for ANTXR1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ANTR1_HUMAN
  • 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.
  • GAPO syndrome (GAPOS) [MIM:230740]: An autosomal recessive 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.

Additional Disease Information for ANTXR1

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

No data available for Genatlas for ANTXR1 Gene

Publications for ANTXR1 Gene

  1. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. (PMID: 12700348) Scobie HM … Young JA (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23 56
  2. Identification of the cellular receptor for anthrax toxin. (PMID: 11700562) Bradley KA … Young JA (Nature 2001) 3 4 23 56
  3. Genes expressed in human tumor endothelium. (PMID: 10947988) St Croix B … Kinzler KW (Science (New York, N.Y.) 2000) 2 3 4 56
  4. Mutations in ANTXR1 cause GAPO syndrome. (PMID: 23602711) Stránecký V … Kmoch S (American journal of human genetics 2013) 3 4 56
  5. Broad expression analysis of human ANTXR1/TEM8 transcripts reveals differential expression and novel splizce variants. (PMID: 22912819) Vargas M … Chaudry GJ (PloS one 2012) 3 4 56

Products for ANTXR1 Gene

Sources for ANTXR1 Gene