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

    Gene ID: 84168, updated on 14-May-2024

    Summary

    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
    NEW
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    Genomic context

    Location:
    2p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69013144..69249327)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69025553..69261692)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 reproductive process 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001410840.1NP_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_018153.3NP_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:39223
      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:218318
      Anth_Ig; Anthrax receptor extracellular domain
    3. NM_032208.3NP_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:39223
      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:396488
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:218317
      Anth_Ig; Anthrax receptor extracellular domain
    4. NM_053034.2NP_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:39223
      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:218319
      Anth_Ig; Anthrax receptor extracellular domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_017005077.3XP_016860566.1  anthrax toxin receptor 1 isoform X2

      UniProtKB/TrEMBL
      Q53FL1
      Conserved Domains (2) summary
      cd01474
      Location:39223
      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:218317
      Anth_Ig; Anthrax receptor extracellular domain
    2. XM_017005076.3XP_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_054344122.1XP_054200097.1  anthrax toxin receptor 1 isoform X2

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