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ANTXR1 Gene

protein-coding   GIFtS: 67
GCID: GC02P069152

Anthrax Toxin Receptor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Anthrax Toxin Receptor 11 2     Anthrax Toxin Receptor1
ATR2 3 5     Tumor Endothelial Marker 8 Precursor1
TEM82 3 5     2310008J16Rik2
Tumor Endothelial Marker 82 3     2810405N18Rik2
GAPO2 5     

External Ids:    HGNC: 210141   Entrez Gene: 841682   Ensembl: ENSG000001696047   OMIM: 6064105   UniProtKB: Q9H6X23   

Export aliases for ANTXR1 gene to outside databases

Previous GC identifers: GC02P069198 GC02P069215 GC02P068977


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include transmembrane signaling receptor activity and collagen binding. An important paralog of this gene is ANTXRL.

UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2
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

summary for ANTXR1 Gene:
ATR (Ataxia telangiectasia and Rad3 related) and ATM (Ataxia telangiectasia mutated) are closely related
kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the
phosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding
proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by
phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and
either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst
ATR is activated by single strand breaks and phosphorylates Chk1.

Gene Wiki entry for ANTXR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANTXR1 gene promoter:
         Elk-1   POU2F1   p53   POU2F1a   FOXD1   STAT5A   LCR-F1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANTXR1 promoter sequence
   Search Chromatin IP Primers for ANTXR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANTXR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13.1

ANTXR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANTXR1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P069152:  view genomic region     (about GC identifiers)

Start:
69,240,276 bp from pter      End:
69,476,459 bp from pter
Size:
236,184 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2 (See protein sequence)
Recommended Name: Anthrax toxin receptor 1 precursor  
Size: 564 amino acids; 62789 Da
Subunit: 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
Sequence caution: Sequence=BAA91707.1; Type=Miscellaneous discrepancy; Note=Erroneous initiation (Translation
N-terminally extended) due to a conflict with the genome, including a frameshift; Sequence=BAB15128.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for ANTXR1:
3N2N (3D)    
Secondary accessions: A8K7U8 J7K7G4 J7KF88 Q4ZFV6 Q53QD8 Q96P02 Q9NVP3
Alternative splicing: 6 isoforms:  Q9H6X2-1   Q9H6X2-2   Q9H6X2-3   Q9H6X2-4   Q9H6X2-5   Q9H6X2-6   (Prostate-specific)

Explore the universe of human proteins at neXtProt for ANTXR1: NX_Q9H6X2

Explore proteomics data for ANTXR1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys445, Lys453
  • Glycosylation2 at Asn166, Asn184, Asn262
  • Modification sites at PhosphoSitePlus

  • See ANTXR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_060623.2  NP_115584.1  NP_444262.1  

    ENSEMBL proteins: 
     ENSP00000301945   ENSP00000387058   ENSP00000386494   ENSP00000430776  

    ANTXR1 Human Recombinant Protein Products:

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    ANTXR1 Antibody Products:

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    Cloud-Clone Corp. ELISAs for ANTXR1
    Cloud-Clone Corp. CLIAs for ANTXR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR008400 Anthrax_toxin_rcpt_extracel
     IPR017360 Anthrax_toxin_rcpt
     IPR008399 Anthrax_toxin_rcpt_C
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q9H6X2

    ProtoNet protein and cluster: Q9H6X2

    2 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB008399 Anthrax receptor


    UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2
    Domain: Binding to PA occurs through the VWA domain
    Similarity: Belongs to the ATR family
    Similarity: Contains 1 VWFA domain


    ANTXR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANTR1_HUMAN, Q9H6X2
    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
    Induction: Up-regulated in cultured angiogenic umbilical vein endothelial cells

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0004888transmembrane signaling receptor activity IDA16762926
    GO:0005515protein binding IPI14507921
    GO:0005518collagen binding IDA16762926
    GO:0046872metal ion binding IEA--
         
    ANTXR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ANTXR1:
     Increased circadian period len 

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Antxr1):
     cardiovascular system  cellular  craniofacial  endocrine/exocrine gland  immune system 
     mortality/aging  no phenotypic analysis  other  reproductive system  skeleton 
     tumorigenesis 

    ANTXR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ANTXR1: Antxr1tm1.2Bstc Antxr1tm1.2Lepp

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANTXR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ANTXR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANTXR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANTXR1

    miRNA
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    miRTarBase miRNAs that target ANTXR1:
    hsa-mir-155-5p (MIRT020976), hsa-let-7b-5p (MIRT052106)

    Block miRNA regulation of human, mouse, rat ANTXR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ANTXR1 (see all 85):
    hsa-miR-194* hsa-miR-579 hsa-miR-3194-5p hsa-miR-1321 hsa-miR-300 hsa-miR-4272 hsa-miR-485-3p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidANTXR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ANTXR1
    Predesigned siRNA for gene silencing in human, mouse, rat ANTXR1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): ANTXR1 (NM_032208)
    Sino Biological Human cDNA Clone for ANTXR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANTXR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANTXR1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANTXR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ANTR1_HUMAN, Q9H6X2: 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: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0031258lamellipodium membrane IDA16762926
    GO:0031527filopodium membrane IDA16762926

    ANTXR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ANTXR1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1p53 Signaling
    p53 Pathway0.38
    2Cellular roles of Anthrax toxin
    Cellular roles of Anthrax toxin

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ANTXR1 (see all 13)
        BRCA1 Pathway
    Molecular Mechanisms of Cancer
    DNA Damage Induced 14-3-3Sigma Signaling
    G1-S Phase Transition
    p53 Mediated Apoptosis

    1 Tocris Bioscience Pathway for ANTXR1
        Apoptosis Pathway

    1 BioSystems Pathway for ANTXR1
        Cellular roles of Anthrax toxin

    1 Sino Biological Pathway for ANTXR1
        p53 Pathway


        Pathway & Disease-focused RT2 Profiler PCR Array including ANTXR1: 
              WNT Signaling Targets in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ANTXR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for ANTXR1 (Q9H6X21, 3 ENSP000003019454) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP6O755811, 3, ENSP000002613494EBI-905643,EBI-910915 I2D: score=2 STRING: ENSP00000261349
    BRCA1P383983, ENSP000003502834I2D: score=1 STRING: ENSP00000350283
    BCL2L1Q078173, ENSP000003025644I2D: score=1 STRING: ENSP00000302564
    EGFRP005333I2D: score=1 
    ANTXR2ENSP000003061854STRING: ENSP00000306185
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IDA16762926
    GO:0022414reproductive process IEA--
    GO:0031532actin cytoskeleton reorganization IDA16762926
    GO:0034446substrate adhesion-dependent cell spreading IDA16762926

    ANTXR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ANTXR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KU 55933Potent and selective ATM kinase inhibitor[587871-26-9]
    KU 60019Potent ATM kinase inhibitor[925701-46-8]

    1 HMDB Compound for ANTXR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ANTXR1 gene (3 alternative transcripts): 
    NM_018153.3  NM_032208.2  NM_053034.2  

    Unigene Cluster for ANTXR1:

    Anthrax toxin receptor 1
    Hs.165859  [show with all ESTs]
    Unigene Representative Sequence: NM_032208
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303714(uc002sff.3 uc002sfg.3) ENST00000409829(uc002sfe.3)
    ENST00000463335(uc002sfd.2) ENST00000409349 ENST00000482235 ENST00000481119
    ENST00000497197
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ANTXR1 (see all 85):
    hsa-miR-194* hsa-miR-579 hsa-miR-3194-5p hsa-miR-1321 hsa-miR-300 hsa-miR-4272 hsa-miR-485-3p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidANTXR1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 3): ANTXR1 (NM_032208)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANTXR1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ANTXR1
      QuantiTect SYBR Green Assays in human, mouse, rat ANTXR1
      QuantiFast Probe-based Assays in human, mouse, rat ANTXR1

    Additional mRNA sequence: 

    AF090095.1 AF279145.2 AF421380.1 AK002160.1 AK025429.1 AK126783.1 AK223273.1 AK292113.1 
    AK309553.1 AL110155.1 BC012074.1 BC012475.1 JX424838.1 JX424839.1 

    23 DOTS entries:

    DT.100030836  DT.119004  DT.97775779  DT.101968313  DT.120969172  DT.309596  DT.120969200  DT.120969196 
    DT.100821866  DT.101976518  DT.100030845  DT.100821863  DT.120969213  DT.75107758  DT.95278535  DT.120969167 
    DT.120969219  DT.421219  DT.75179577  DT.91671089  DT.95125892  DT.100821867  DT.91726528 

    Selected AceView cDNA sequences (see all 346):

    NM_032208 BF793282 BU167717 NM_018153 AI168707 AW239233 AK025429 BF725695 
    AI272730 AI242331 BU629472 BM670742 AW207263 AA369977 CB852472 AA478681 
    AI754607 AK002160 AA235039 BU632284 CF128862 CF131679 AF279145 BC012074 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ANTXR1 (see all 7)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for ANTXR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ANTXR1 expression in normal human tissues (normalized intensities)      ANTXR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATAGGAGA
    ANTXR1 Expression
    About this image


    ANTXR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Lung (Respiratory System)
             Basal Cells Trachea
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Uterus (Reproductive System)
    ANTXR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANTXR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.165859

    UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2
    Tissue specificity: Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor
    endothelial cells

        Pathway & Disease-focused RT2 Profiler PCR Array including ANTXR1: 
              WNT Signaling Targets in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ANTXR1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Antxr11 , 5 anthrax toxin receptor 11, 5 87.26(n)1
    96.58(a)1
      6 (37.94 cM)5
    695381  NM_054041.21  NP_473382.11 
     871338545 
    chicken
    (Gallus gallus)
    Aves ANTXR11 anthrax toxin receptor 1 80.71(n)
    90.02(a)
      428199  XM_425758.4  XP_425758.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia antxr11 anthrax toxin receptor 1 74.45(n)
    81.29(a)
      100486418  XM_002935307.2  XP_002935353.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BI867612.12   -- 76.91(n)    BI867612.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANTXR1 gene
    ANTXRL2  ANTXR22  
    3 SIMAP similar genes for ANTXR1 using alignment to 4 protein entries:     ANTR1_HUMAN (see all proteins):
    ANTXR1/NNG1 fusion    ANTXRL    ANTXR2

    ANTXR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ANTXR1 (see all 4864)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1194750401,2
    Cother169246184(+) CCATCA/GCCCTG 4 T A mis10--------
    rs1389946681,2
    C--68986870(+) TGATG-/ATAGATGA 3 -- cds10--------
    rs106317951,2
    C--68990962(+) GTGTG-/GT/TA 
            
    TGTGT
    3 -- int11CSA 2
    rs2021651341,2
    --69010714(+) AGCAC-/TTTA  
            
    TTTAT
    3 -- int10--------
    rs106316821,2
    C--69010716(+) CACTT-/ATA   
      T
    /TATA
    TATCC
    3 -- int11CSA 2
    rs96789331,2
    C--69059267(+) gaaggA/Gaggaa 3 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs96789341,2
    C,F--69059275(+) gaaggA/Gaggaa 3 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs96789391,2
    C,F--69059283(+) gaaggA/Gaggaa 3 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs1470322631,2
    C--69082652(+) AGGTT-/GGTCAT 3 -- int10--------
    rs768548161,2
    C--69105152(+) GCTCTT/CTCCTA 3 -- us2k14Minor allele frequency- C:0.13CSA WA NA EA 360

    HapMap Linkage Disequilibrium report for ANTXR1 (69240276 - 69476459 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ANTXR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1001025CNV Deletion20482838
    nsv2767CNV Insertion18451855
    esv33940CNV Loss17666407
    nsv528644CNV Loss19592680
    nsv521516CNV Loss19592680

    Human Gene Mutation Database (HGMD): ANTXR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANTXR1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606410   
    OMIM disorders: 602089  230740  
    UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2
  • 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. 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 17 diseases for ANTXR1:    About MalaCards
    gapo syndrome    hemangioma, capillary infantile    anthrax disease    inhalation anthrax
    ataxia telangiectasia    gingival hypertrophy    endotheliitis    hemangioma
    ataxia    colorectal cancer    gingivitis    synovitis
    melanoma    breast cancer    multiple myeloma    myeloma
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ANTXR1:
    Inhalation anthrax

    ANTXR1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for ANTXR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anthrax 90 22 12551953 (2), 20382142 (2), 16285529 (1), 16141341 (1) (see all 16)
    edema 35 1 17251181 (1)
    tumors 11.4 13 17251181 (3), 19622764 (2), 14871805 (1), 20382142 (1) (see all 8)

    Genetic Association Database (GAD): ANTXR1
    Human Genome Epidemiology (HuGE) Navigator: ANTXR1 (1 document)

    Export disorders for ANTXR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ANTXR1 gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with ANTXR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genes expressed in human tumor endothelium. (PubMed id 10947988)1, 2, 3 St Croix B....Kinzler K.W. (Science 2000)
    2. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. (PubMed id 12700348)1, 2, 9 Scobie H.M.... Young J.A.T. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    3. Identification of the cellular receptor for anthrax toxin. (PubMed id 11700562)1, 2, 9 Bradley K.A.... Young J.A.T. (Nature 2001)
    4. Mutations in ANTXR1 cause GAPO syndrome. (PubMed id 23602711)1, 2 StrA!neckA1 V....Kmoch S. (Am. J. Hum. Genet. 2013)
    5. Broad Expression Analysis of Human ANTXR1/TEM8 Transcripts Reveals Differential Expression and Novel Splice Variants. (PubMed id 22912819)1, 2 Vargas M.... Chaudry G.J. (PLoS ONE 2012)
    6. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (PLoS Genet. 2011)
    7. The structure of tumor endothelial marker 8 (TEM8) extracellular domain and implications for its receptor function for recognizing anthrax toxin. (PubMed id 20585457)1, 2 Fu S.... Rao Z. (PLoS ONE 2010)
    8. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    9. Anthrax toxin receptor 1/tumor endothelium marker 8 mediates cell spreading by coupling extracellular ligands to the actin cytoskeleton. (PubMed id 16762926)1, 2 Werner E.... Faundez V. (J. Biol. Chem. 2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84168 HGNC: 21014 AceView: ANTXR1 Ensembl:ENSG00000169604 euGenes: HUgn84168
    ECgene: ANTXR1 H-InvDB: ANTXR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ANTXR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ANTXR1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANTXR1 gene:
    Search GeneIP for patents involving ANTXR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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