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    ANTXR1 ANTXR cell adhesion molecule 1 [ Homo sapiens (human) ]

    Gene ID: 84168, updated on 12-Nov-2024

    Summary

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    Official Symbol
    ANTXR1provided by HGNC
    Official Full Name
    ANTXR cell adhesion molecule 1provided by HGNC
    Primary source
    HGNC:HGNC:21014
    See related
    Ensembl:ENSG00000169604 MIM:606410; AllianceGenome:HGNC:21014
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATR; GAPO; TEM8
    Summary
    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]
    Expression
    Broad expression in gall bladder (RPKM 37.4), ovary (RPKM 30.6) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANTXR1 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69013144..69249327)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69025553..69261692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69240276..69476459)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr2:69199258-69199490 Neighboring gene gastrokine 2 Neighboring gene gastrokine 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59282 Neighboring gene microRNA 3126 Neighboring gene Sharpr-MPRA regulatory region 10320 Neighboring gene Sharpr-MPRA regulatory region 8391 Neighboring gene Sharpr-MPRA regulatory region 12475 Neighboring gene RNA, U6 small nuclear 1216, pseudogene Neighboring gene uncharacterized LOC124906019 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:69423745-69424944 Neighboring gene RNA, 5S ribosomal pseudogene 96 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:69436267-69436771 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:69436772-69437275 Neighboring gene Sharpr-MPRA regulatory region 2730 Neighboring gene golgi reassembly stacking protein 2, 55kDa pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr2:69506926-69507427 Neighboring gene uncharacterized LOC124907821

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Broad expression analysis of human ANTXR1/TEM8 transcripts reveals differential expression and novel splizce variants. Vargas M, et al. PLoS One, 2012. PMID 22912819, Free PMC Article
    2. Structural basis for anthrax toxin receptor 1 recognition by Seneca Valley Virus. Jayawardena N, et al. Proc Natl Acad Sci U S A, 2018 Nov 13. PMID 30381454, Free PMC Article
    3. ANTXR1 Intronic Variants Are Associated with Fetal Hemoglobin in the Arab-Indian Haplotype of Sickle Cell Disease. Al-Ali ZA, et al. Acta Haematol, 2018. PMID 30114697
    4. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Dinckan N, et al. Am J Med Genet A, 2018 Apr. PMID 29436111, Free PMC Article
    5. Effect of silencing TEM8 gene on proliferation, apoptosis, migration and invasion of XWLC‑05 lung cancer cells. Gong Q, et al. Mol Med Rep, 2018 Jan. PMID 29115620, Free PMC Article

    See all (98) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GAPO syndrome: a novel variant in ANTXR1 gene.
      Title: GAPO syndrome: a novel variant in ANTXR1 gene.
    2. ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.
      Title: ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.
    3. Depleting ANTXR1 suppresses glioma growth via deactivating PI3K/AKT pathway.
      Title: Depleting ANTXR1 suppresses glioma growth via deactivating PI3K/AKT pathway.
    4. Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings.
      Title: Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings.
    5. ANTXR1 Regulates Erythroid Cell Proliferation and Differentiation through wnt/beta-Catenin Signaling Pathway In Vitro and in Hematopoietic Stem Cell.
      Title: ANTXR1 Regulates Erythroid Cell Proliferation and Differentiation through wnt/β-Catenin Signaling Pathway In Vitro and in Hematopoietic Stem Cell.
    6. Transmembrane Protein ANTXR1 Regulates gamma-Globin Expression by Targeting the Wnt/beta-Catenin Signaling Pathway.
      Title: Transmembrane Protein ANTXR1 Regulates γ-Globin Expression by Targeting the Wnt/β-Catenin Signaling Pathway.
    7. Circular RNA circAFF2 accelerates gastric cancer development by activating miR-6894-5p and regulating ANTXR 1 expression.
      Title: Circular RNA circAFF2 accelerates gastric cancer development by activating miR-6894-5p and regulating ANTXR 1 expression.
    8. N-Myc promotes angiogenesis and therapeutic resistance of prostate cancer by TEM8.
      Title: N-Myc promotes angiogenesis and therapeutic resistance of prostate cancer by TEM8.
    9. N-Linked Glycosylation on Anthrax Toxin Receptor 1 Is Essential for Seneca Valley Virus Infection.
      Title: N-Linked Glycosylation on Anthrax Toxin Receptor 1 Is Essential for Seneca Valley Virus Infection.
    10. Targeted silencing of TEM8 suppresses nonsmall cell lung cancer tumor growth via the ERK/Bcl2 signaling pathway.
      Title: Targeted silencing of TEM8 suppresses non‑small cell lung cancer tumor growth via the ERK/Bcl‑2 signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (56)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Capillary infantile hemangioma
    MedGen: C1865871 OMIM: 602089 GeneReviews: Not available
    		Compare labs
    GAPO syndrome
    MedGen: C0406723 OMIM: 230740 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10601, FLJ11298, FLJ21776

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface HDA PubMed 
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in filopodium membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    anthrax toxin receptor 1
    Names
    2310008J16Rik
    2810405N18Rik
    tumor endothelial marker 8

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012649.1 RefSeqGene

      Range
      5036..241184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001410840.1 → NP_001397769.1  anthrax toxin receptor 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC112230, AC114802
      Consensus CDS
      CCDS92773.1
      UniProtKB/TrEMBL
      H0YC24
      Related
      ENSP00000430776.2, ENST00000482235.2

    2. NM_018153.3 → NP_060623.2  anthrax toxin receptor 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_060623.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternative 3' coding region and 3' UTR segment and lacks multiple segments, compared to variant 1. The resulting protein (isoform 3) has a shorter and distinct C-terminus when it is compared to isoform 1.
      Source sequence(s)
      BC012074, BC012475, DC360415, DC361072
      Consensus CDS
      CCDS46314.1
      UniProtKB/TrEMBL
      Q53FL1
      Related
      ENSP00000387058.3, ENST00000409829.7
      Conserved Domains (2) summary
      cd01474
      Location:39 → 223
      vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
      pfam05587
      Location:218 → 318
      Anth_Ig; Anthrax receptor extracellular domain

    3. NM_032208.3 → NP_115584.1  anthrax toxin receptor 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_115584.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AF279145, AK223273, BU687536, DC361072
      Consensus CDS
      CCDS1892.1
      UniProtKB/Swiss-Prot
      A8K7U8, J7K7G4, J7KF88, Q4ZFV6, Q53QD8, Q96P02, Q9H6X2, Q9NVP3
      Related
      ENSP00000301945.4, ENST00000303714.9
      Conserved Domains (3) summary
      cd01474
      Location:39 → 223
      vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
      pfam05586
      Location:396 → 488
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:218 → 317
      Anth_Ig; Anthrax receptor extracellular domain

    4. NM_053034.2 → NP_444262.1  anthrax toxin receptor 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_444262.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternative 3' coding region and 3' UTR segment and lacks multiple segments, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.
      Source sequence(s)
      AF421380, AK309553, CF126791, DC361072
      Consensus CDS
      CCDS46313.1
      UniProtKB/TrEMBL
      Q53FL1
      Related
      ENSP00000386494.3, ENST00000409349.7
      Conserved Domains (2) summary
      cd01474
      Location:39 → 223
      vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
      pfam05587
      Location:218 → 319
      Anth_Ig; Anthrax receptor extracellular domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      69013144..69249327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005077.3 → XP_016860566.1  anthrax toxin receptor 1 isoform X2

      UniProtKB/TrEMBL
      Q53FL1
      Conserved Domains (2) summary
      cd01474
      Location:39 → 223
      vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
      pfam05587
      Location:218 → 317
      Anth_Ig; Anthrax receptor extracellular domain

    2. XM_017005076.3 → XP_016860565.1  anthrax toxin receptor 1 isoform X1

      UniProtKB/TrEMBL
      Q53FL1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      69025553..69261692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344122.1 → XP_054200097.1  anthrax toxin receptor 1 isoform X2

    2. XM_054344121.1 → XP_054200096.1  anthrax toxin receptor 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6X2.2 GenPept UniProtKB/Swiss-Prot:Q9H6X2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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